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2024

Meier-Abt, Fabienne; Kraemer, Dennis; Braun, Nils; Reinehr, Michael; Stutz-Grunder, Eveline; Steindl, Katharina; Rauch, Anita (2024). Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor. American Journal of Medical Genetics. Part A, 194(6):e63528.

Hunt, Adam D; Procyshyn, Tanya L (2024). Changing perspectives on autism: Overlapping contributions of evolutionary psychiatry and the neurodiversity movement. Autism Research, 17(3):459-466.

Cavolo, Alice; Pizzolato, Daniel (2024). Ethical reflections on organizing the first human trial of artificial womb technologies. Prenatal Diagnosis, 44(3):336-342.

Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia (2024). Identification of the DNA methylation signature of Mowat-Wilson syndrome. European Journal of Human Genetics:Epub ahead of print.

Benvenga, Vanni; Cuénod, Aline; Purushothaman, Srinithi; Dasen, Gottfried; Weisser, Maja; Bassetti, Stefano; Roloff, Tim; Siegemund, Martin; Heininger, Ulrich; Bielicki, Julia; Wehrli, Marianne; Friderich, Paul; Frei, Reno; Widmer, Andreas; Herzog, Kathrin; Fankhauser, Hans; Nolte, Oliver; Bodmer, Thomas; Risch, Martin; Dubuis, Olivier; Pranghofer, Sigrid; Calligaris-Maibach, Romana; Graf, Susanne; Perreten, Vincent; Seth-Smith, Helena M B; Egli, Adrian (2024). Historic methicillin-resistant Staphylococcus aureus: expanding current knowledge using molecular epidemiological characterization of a Swiss legacy collection. Genome Medicine, 16(1):23.

Martinez, Michael; Harding, Cary O; Schwank, Gerald; Thöny, Beat (2024). State-of-the-art 2023 on gene therapy for phenylketonuria. Journal of Inherited Metabolic Disease, 47(1):80-92.

Makris, Georgios; Veit, Lara; Rüfenacht, Véronique; Klassa, Sven; Zürcher, Nadia; Matsumoto, Shirou; Poms, Martin; Häberle, Johannes (2024). Expression and function of the urea cycle in widely-used hepatic cellular models. Journal of Inherited Metabolic Disease:Epub ahead of print.

Siri, Barbara; Olivieri, Giorgia; Lepri, Francesca Romana; Poms, Martin; Goffredo, Bianca Maria; Commone, Anna; Novelli, Antonio; Haberle, Johannes; Dionisi-Vici, Carlo (2024). Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease. Orphanet Journal of Rare Diseases, 19(1):3.

González-Acosta, Daniel; Lopes, Massimo (2024). DNA replication and replication stress response in the context of nuclear architecture. Chromosoma, 133(1):57-75.

Gupta, Shibu; Guérin, Amandine; Herger, Aline; Hou, Xiaoyu; Schaufelberger, Myriam; Roulard, Romain; Diet, Anouck; Roffler, Stefan; Lefebvre, Valérie; Wicker, Thomas; Pelloux, Jérôme; Ringli, Christoph (2024). Growth-inhibiting effects of the unconventional plant APYRASE 7 of Arabidopsis thaliana influences the LRX/RALF/FER growth regulatory module. PLoS Genetics, 20(1):e1011087.

2023

Erdem, Özge; de Graaff, Jurgen C; Hilty, Matthias P; Kraemer, Ulrike S; de Liefde, Inge I; van Rosmalen, Joost; Ince, Can; Tibboel, Dick; Kuiper, Jan Willem (2023). Microcirculatory Monitoring in Children with Congenital Heart Disease Before and After Cardiac Surgery. Journal of Cardiovascular Translational Research, 16(6):1333-1342.

Eichinger, Johanna; Zimmermann, Bettina; Elger, Bernice; McLennan, Stuart; Filges, Isabel; Koné, Insa (2023). ‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland. European Journal of Human Genetics, 31(12):1398-1406.

Nagyova, Emilia; Hoorntje, Edgar T; Te Rijdt, Wouter P; Bosman, Laurens P; Syrris, Petros; Protonotarios, Alexandros; Elliott, Perry M; Tsatsopoulou, Adalena; Mestroni, Luisa; Taylor, Matthew R G; Sinagra, Gianfranco; Merlo, Marco; Wada, Yuko; Horie, Minoru; Mogensen, Jens; Christensen, Alex H; Gerull, Brenda; Song, Lei; Yao, Yan; Fan, Siyang; Saguner, Ardan M; Duru, Firat; Koskenvuo, Juha W; Cruz Marino, Tania; Tichnell, Crystal; Judge, Daniel P; Dooijes, Dennis; Lekanne Deprez, Ronald H; Basso, Cristina; Pilichou, Kalliopi; et al (2023). A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients. Journal of Cardiovascular Translational Research, 16(6):1276-1286.

Arango-Isaza, Epifanía; Aninao, María José; Campbell, Roberto; Martinez, Felipe I; Shimizu, Kentaro K; Barbieri, Chiara (2023). Bridging the gap: returning genetic results to indigenous communities in Latin America. Frontiers in Genetics, 14:1304974.

Wallace, Eric L; Goker-Alpan, Ozlem; Wilcox, William R; Holida, Myrl; Bernat, John; Longo, Nicola; Linhart, Aleš; Hughes, Derralynn A; Hopkin, Robert J; Tøndel, Camilla; Langeveld, Mirjam; Giraldo, Pilar; Pisani, Antonio; Germain, Dominique Paul; Mehta, Ankit; Deegan, Patrick B; Molnar, Maria Judit; Ortiz, Damara; Jovanovic, Ana; Muriello, Michael; Barshop, Bruce A; Kimonis, Virginia; Vujkovac, Bojan; Nowak, Albina; Geberhiwot, Tarekegn; Kantola, Ilkka; Knoll, Jasmine; Waldek, Stephen; Nedd, Khan; Karaa, Amel; et al (2023). Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. Journal of Medical Genetics:x-x.

Stolwijk, N N; Bosch, A M; Bouwhuis, N; Häberle, Johannes; van Karnebeek, C; van Spronsen, F J; Langeveld, M; Hollak, C E M (2023). Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism. Journal of Inherited Metabolic Disease, 46(6):1017-1028.

Cuénod, Aline; Agnetti, Jessica; Seth-Smith, Helena M B; Roloff, Tim; Wälchli, Denise; Shcherbakov, Dimitri; Akbergenov, Rashid; Tschudin-Sutter, Sarah; Bassetti, Stefano; Siegemund, Martin; Nickel, Christian H; Moran-Gilad, Jacob; Keys, Timothy G; Pflüger, Valentin; Thomson, Nicholas R; Egli, Adrian (2023). Bacterial genome-wide association study substantiates papGII of Escherichia coli as a major risk factor for urosepsis. Genome Medicine, 15(1):89.

Laetsch, Dominik R; Bisschop, Gertjan; Martin, Simon H; Aeschbacher, Simon; Setter, Derek; Lohse, Konrad (2023). Demographically explicit scans for barriers to gene flow using gIMble. PLoS Genetics, 19(10):e1010999.

Tkalcec, Antonia; Bierlein, Maria; Seeger‐Schneider, Gudrun; Walitza, Susanne; Jenny, Bettina; Menks, Willeke M; Felhbaum, Lynn V; Borbas, Réka; Cole, David M; Raschle, Nora; Herbrecht, Evelyn; Stadler, Christina; Cubillo, Ana (2023). Empathy deficits, callous‐unemotional traits and structural underpinnings in autism spectrum disorder and conduct disorder youth. Autism Research, 16(10):1946-1962.

Zaytseva, Polina; Visser, Valery L; Ehterami, Arian; Hoerstrup, Simon P; Motta, Sarah E; Emmert, Maximilian Y (2023). Xenogeneic Serum‐Free Human Cell‐Derived Tissue Engineered Matrices for the Development of Clinical‐Grade Biomimetic Cardiovascular Devices. Advanced Therapeutics, 6(10):2300041.

Kiener, Sarah; Troyer, Heather; Ruvolo, Daniel; Grest, Paula; Soto, Sara; Letko, Anna; Jagannathan, Vidhya; Leeb, Tosso; Mauldin, Elizabeth A; Yang, Ching; Rostaher, Ana (2023). Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa. Genes, 14(10):1835.

Eichenauer, Heike; Ehlert, Ulrike (2023). The association between prenatal famine, DNA methylation and mental disorders: a systematic review and meta-analysis. Clinical Epigenetics, 15(1):152.

Kido, Jun; Haberle, Johannes; Tanaka, Toju; Nagao, Masayoshi; Wada, Yoichi; Numakura, Chikahiko; Bo, Ryosuke; Nyuzuki, Hiromi; Dateki, Sumito; Maruyama, Shinsuke; Murayama, Kei; Yoshida, Shinichiro; Nakamura, Kimitoshi (2023). Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening. Journal of Inherited Metabolic Disease:Epub ahead of print.

Greco, Benedetta; Caviglia, Stefania; Martinelli, Diego; Capitello, Teresa Grimaldi; Liccardo, Daniela; De Nictolis, Francesca; Pietrobattista, Andrea; Huemer, Martina; Piga, Simone; Olivieri, Giorgia; Spagnoletti, Gionata; Spada, Marco; Dionisi‐Vici, Carlo (2023). The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism. Journal of Inherited Metabolic Disease, 46(5):906-915.

Spiekerkoetter, Ute; Bick, David; Scott, Richard; Hopkins, Henrietta; Krones, Tanja; Gross, Edith Sky; Bonham, James R (2023). Genomic newborn screening: Are we entering a new era of screening? Journal of Inherited Metabolic Disease, 46(5):778-795.

Bonner, Erin R; Dawood, Adam; Gordish-Dressman, Heather; Eze, Augustine; Bhattacharya, Surajit; Yadavilli, Sridevi; Mueller, Sabine; Waszak, Sebastian M; Nazarian, Javad (2023). Pan-cancer atlas of somatic core and linker histone mutations. n p j Genomic Medicine, 8(1):23.

Kaur, Jaspreet; Chandrashekar, Darshan S; Varga, Zsuzsanna; Sobottka, Bettina; Janssen, Emiel; Gandhi, Khanjan; Kowalski, Jeanne; Kiraz, Umay; Varambally, Sooryanarayana; Aneja, Ritu (2023). Whole-Exome Sequencing Reveals High Mutational Concordance between Primary and Matched Recurrent Triple-Negative Breast Cancers. Genes, 14(9):1690.

Brunetti, Barbara; Bacci, Barbara; Abbate, Jessica Maria; Tura, Giorgia; Paciello, Orlando; Vaccaro, Emanuela; Prisco, Francesco; Gandini, Gualtiero; Okonji, Samuel; Paola, Andrea di; Letko, Anna; Drögemüller, Cord; Jagannathan, Vidhya; Turba, Maria Elena; Ogundipe, Tolulope Grace; Lorenzini, Luca; Rosati, Marco; Psalla, Dimitra; Leeb, Tosso; Drögemüller, Michaela (2023). SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy. Genes, 14(8):1641.

Stockley, Robert A; Pye, Anita; De Soyza, Joshua; Turner, Alice M; Miravitlles, Marc; Torres-Duran, María; Tanash, Hanan; Rodríguez-García, Carlota; López-Campos, José Luis; Chlumsky, Jan; Guimaraes, Catarina; Rodríguez-Hermosa, Juan Luis; Corsico, Angelo; Martinez-González, Cristina; Hernández-Pérez, José María; Bustamante, Ana; Parr, David G; Casas-Maldonado, Francisco; Hecimovic, Ana; Janssens, Wim; Lara, Beatriz; Barrecheguren, Miriam; González, Cruz; Stolk, Jan; Clarenbach, Christian F (2023). The prevalence of bronchiectasis in patients with alpha-1 antitrypsin deficiency: initial report of EARCO. Orphanet Journal of Rare Diseases, 18(1):243.

Kerdivel, Gwenneg; Amrouche, Floriane; Calmejane, Marie-Ange; Carallis, Floriane; Hamroune, Juliette; Hantel, Constanze; Bertherat, Jérôme; Assié, Guillaume; Boeva, Valentina (2023). DNA hypermethylation driven by DNMT1 and DNMT3A favors tumor immune escape contributing to the aggressiveness of adrenocortical carcinoma. Clinical Epigenetics, 15(1):121.

Vintschger, Ella; Kraemer, Dennis; Joset, Pascal; Horn, Anselm H C; Rauch, Anita; Sticht, Heinrich; Bachmann-Gagescu, Ruxandra (2023). Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies. European Journal of Human Genetics, 31(8):953-961.

Zanoni, Paolo; Steindl, Katharina; Sticht, Heinrich; Oneda, Beatrice; Joset, Pascal; Ivanovski, Ivan; Horn, Anselm H C; Cabello, Elena María; Laube, Julia; Zweier, Markus; Baumer, Alessandra; Rauch, Anita; Khan, Nadia (2023). The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European Journal of Human Genetics, 31(7):784-792.

Lucienne, Marie; Gerlini, Raffaele; Rathkolb, Birgit; Calzada-Wack, Julia; Forny, Patrick; Wueest, Stephan; Kaech, Andres; Traversi, Florian; Forny, Merima; Bürer, Céline; Aguilar-Pimentel, Antonio; Irmler, Martin; Beckers, Johannes; Sauer, Sven; Kölker, Stefan; Dewulf, Joseph P; Bommer, Guido T; Hoces, Daniel; Gailus-Durner, Valerie; Fuchs, Helmut; Rozman, Jan; Froese, D Sean; Baumgartner, Matthias R; de Angelis, Martin Hrabě (2023). Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria. Human Molecular Genetics, 32(17):2717-2734.

Lourdes Frehner, Bianca; Christen, Matthias; Reichler, Iris M; Jagannathan, Vidhya; Novacco, Marilisa; Riond, Barbara; Peters, Laureen M; Sánchez-Andrade, José Suárez; Pieńkowska-Schelling, Aldona; Schelling, Claude; Kipar, Anja; Leeb, Tosso; Balogh, Orsolya (2023). Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes. PLoS Genetics, 19(6):e1010805.

Hase, Adrian; Haynes, Melanie; Hasler, Gregor (2023). Using simple economic games to assess social orienting and prosocial behavior in adolescents with autism spectrum disorder. Autism Research, 16(6):1199-1209.

Gasser, Benedikt; Frey, Walter O; Valdivieso, Paola; Scherr, Johannes; Spörri, Jörg; Flück, Martin (2023). Association of Gene Variants with Seasonal Variation in Muscle Strength and Aerobic Capacity in Elite Skiers. Genes, 14(6):1165.

Huemer, Martina; Bösch, Florin (2023). Measuring what matters: Why and how to include patient reported outcomes in clinical care and research on inborn errors of metabolism. Journal of Inherited Metabolic Disease, 46(5):796-805.

Kölker, Stefan; Baumgartner, Matthias R (2023). Organic acidurias: Ingredients for precision medicine. Journal of Inherited Metabolic Disease, 46(3):369-370.

Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Burgard, Peter; Chapman, Kimberly A; Dobbelaere, Dries; Heringer‐Seifert, Jana; Fleissner, Sandra; Grohmann‐Held, Karina; Hahn, Gabriele; Harting, Inga; Hoffmann, Georg F; Jochum, Frank; Karall, Daniela; Konstantopoulous, Vassiliki; Krawinkel, Michael B; Lindner, Martin; Märtner, E M Charlotte; Nuoffer, Jean‐Marc; Okun, Jürgen G; Plecko, Barbara; Posset, Roland; Sahm, Katja; Scholl‐Bürgi, Sabine; Thimm, Eva; Walter, Magdalena; Williams, Monique; et al (2023). Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision. Journal of Inherited Metabolic Disease, 46(3):482-519.

McCorvie, Thomas J; Ferreira, Douglas; Yue, Wyatt W; Froese, D Sean (2023). The complex machinery of human cobalamin metabolism. Journal of Inherited Metabolic Disease, 46(3):406-420.

Reurink, Janine; Weisschuh, Nicole; Garanto, Alejandro; Dockery, Adrian; van den Born, L Ingeborgh; Fajardy, Isabelle; Haer-Wigman, Lonneke; Kohl, Susanne; Wissinger, Bernd; Farrar, G Jane; Ben-Yosef, Tamar; Pfiffner, Fatma Kivrak; Berger, Wolfgang; Weener, Marianna E; Dudakova, Lubica; Liskova, Petra; Sharon, Dror; Salameh, Manar; Offenheim, Ashley; Heon, Elise; Girotto, Giorgia; Gasparini, Paolo; Morgan, Anna; Bergen, Arthur A; Ten Brink, Jacoline B; Klaver, Caroline C W; Tranebjærg, Lisbeth; Rendtorff, Nanna D; Vermeer, Sascha; Smits, Jeroen J; et al (2023). Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction. Human Genetics and Genomics Advances, 4(2):100181.

Badertscher, Patrick; du Fay de Lavallaz, Jeanne; Hammerer-Lercher, Angelika; Mueller, Christian; BASEL IX Investigators (2023). Clinical Utility of D-Dimer for Rule-Out or Rule-In of Venous Thromboembolism in Syncope. Journal of Cardiovascular Translational Research, 16(2):427-429.

Mongelli, A; Panunzi, S; Nesta, M; Gottardi Zamperla, M; Atlante, S; Barbi, V; Mongiardini, V; Ferraro, F; De Martino, S; Cis, L; Re, A; Maltese, S; Bachetti, T; La Rovere, M T; Martelli, F; Pesce, M; Nanni, S; Massetti, M; Pontecorvi, A; Farsetti, A; Gaetano, C (2023). Distinguishable DNA methylation defines a cardiac-specific epigenetic clock. Clinical Epigenetics, 15(1):53.

Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Süßmuth, Kira; Komlosi, Katalin; Bouadjar, Bakar; Tantcheva-Poór, Iliana; Hellström Pigg, Maritta; Betz, Regina C; Giehl, Kathrin; Schedel, Fiona; Weibel, Lisa; Schulz, Solveig; Stölzl, Dora V; Tadini, Gianluca; Demiral, Emine; Berggard, Karin; Zimmer, Andreas D; Alter, Svenja; Fischer, Judith (2023). Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. Genes, 14(3):717.

Johannessen, Helen; Hanson, Erin; Gill, Peter; Haas, Cordula; Bergseth, Erik Francisco; Ballantyne, Jack; Fonneløp, Ane Elida (2023). Body Fluid Identification in Samples Collected after Intimate and Social Contact: A Comparison of Two mRNA Profiling Methods and the Additional Information Gained by cSNP Genotypes. Genes, 14(3):636.

Lee, Olivia W; Rodrigues, Calvin; Lin, Shu-Hong; Luo, Wen; Jones, Kristine; Brown, Derek W; Zhou, Weiyin; Karlins, Eric; Khan, Sairah M; Baulande, Sylvain; Raynal, Virginie; Surdez, Didier; Reynaud, Stephanie; Rubio, Rebeca Alba; Zaidi, Sakina; Grossetête, Sandrine; Ballet, Stelly; Lapouble, Eve; Laurence, Valérie; Pierron, Gaelle; Gaspar, Nathalie; Corradini, Nadège; Marec-Bérard, Perrine; Rothman, Nathaniel; Dagnall, Casey L; Burdett, Laurie; Manning, Michelle; Wyatt, Kathleen; Yeager, Meredith; Chari, Raj; et al (2023). Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding. American Journal of Human Genetics, 110(3):427-441.

de Bruijn, Suzanne E; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S; Berger, Wolfgang; et al (2023). Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes. Genetics in Medicine, 25(3):100345.

Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; et al; Gautschi, Matthias; Häberle, Johannes (2023). Impact of the SARS‐CoV ‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium. Journal of Inherited Metabolic Disease, 46(2):220-231.

Liy-Wong, Carmen; Tarango, Cristina; Pope, Elena; Coates, Thomas; Bruckner, Anna L; Feinstein, James A; Schwieger-Briel, Agnes; Hubbard, Lynne D; Jane, Clapham; Torres-Pradilla, Mauricio; Zmazek, Matija; Lara-Corrales, Irene (2023). Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa. Orphanet Journal of Rare Diseases, 18(1):38.

Schneider, Isabelle; Calcagni, Maurizio; Buschmann, Johanna (2023). Adipose-derived stem cells applied in skin diseases, wound healing and skin defects: a review. Cytotherapy, 25(2):105-119.

Barbon, Carlotta; Grünherz, Lisanne; Schweizer, Riccardo; Lindenblatt, Nicole; Giovanoli, Pietro (2023). Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome. American Journal of Medical Genetics. Part A, 191(2):559-563.

Steffensen, Ellen Hollands; Skakkebæk, Anne; Gadsbøll, Kasper; Petersen, Olav Bjørn; Westover, Thomas; Strange, Heather; NIPT-SCA-map Study Group; Vogel, Ida; et al; Rauch, Anita (2023). Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study. Prenatal Diagnosis, 43(2):144-155.

Kocher, Agnes; Simon, Michael; Dwyer, Andrew A; Blatter, Catherine; Bogdanovic, Jasmina; Künzler-Heule, Patrizia; Villiger, Peter M; Dan, Diana; Distler, Oliver; Walker, Ulrich A; Nicca, Dunja (2023). Patient Assessment Chronic Illness Care (PACIC) and its associations with quality of life among Swiss patients with systemic sclerosis: a mixed methods study. Orphanet Journal of Rare Diseases, 18(1):7.

Crowther, Lisa M; Poms, Martin; Zandl‐Lang, Martina; Abela, Lucia; Hartmann, Hans; Seiler, Michelle; Mathis, Déborah; Plecko, Barbara (2023). Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy. Journal of Inherited Metabolic Disease, 46(1):129-142.

Peters, Tessa M A; Merx, Jona; Kooijman, Pieter C; Noga, Marek; de Boer, Siebolt; van Gemert, Loes A; Salden, Guido; Engelke, Udo F H; Lefeber, Dirk J; van Outersterp, Rianne E; Berden, Giel; Boltje, Thomas J; Artuch, Rafael; Pías-Peleteiro, Leticia; García-Cazorla, Ángeles; Barić, Ivo; Thöny, Beat; Oomens, Jos; Martens, Jonathan; Wevers, Ron A; Verbeek, Marcel M; Coene, Karlien L M; Willemsen, Michèl A A P (2023). Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit. Journal of Inherited Metabolic Disease, 46(1):66-75.

Huang, Qingyao; Baudis, Michael (2023). Candidate targets of copy number deletion events across 17 cancer types. Frontiers in Genetics, 13:1017657.

2022

Chiapperino, Luca; Paneni, Francesco (2022). Why epigenetics is (not) a biosocial science and why that matters. Clinical Epigenetics, 14(1):144.

Armignacco, Roberta; Reel, Parminder S; Reel, Smarti; et al; Beuschlein, Felix (2022). Whole blood methylome-derived features to discriminate endocrine hypertension. Clinical Epigenetics, 14(1):142.

Robles-Bolivar, Paula; Bächinger, David; Parra-Perez, Alberto M; Román-Naranjo, Pablo; Escalera-Balsera, Alba; Gallego-Martinez, Alvaro; Eckhard, Andreas H; Lopez-Escamez, Jose A (2022). A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss. European Journal of Human Genetics, 30(11):1301-1305.

Mathes, Sebastian; Fahrner, Alexandra; Luca, Edlira; Krützfeldt, Jan (2022). Growth hormone/IGF-I-dependent signaling restores decreased expression of the myokine SPARC in aged skeletal muscle. Journal of Molecular Medicine, 100(11):1647-1658.

Thumfart, Kristina M; Lazzeri, Samuel; Manuella, Francesca; Mansuy, Isabelle M (2022). Long-term effects of early postnatal stress on Sertoli cells. Frontiers in Genetics, 13:1024805.

Gasser, Benedikt; Flück, Martin; Frey, Walter O; Valdivieso, Paola; Spörri, Jörg (2022). Association of Gene Variants for Mechanical and Metabolic Muscle Quality with Cardiorespiratory and Muscular Variables Related to Performance in Skiing Athletes. Genes, 13(10):1798.

Büttner, Florian A; Winter, Stefan; Stühler, Viktoria; et al; Moch, Holger (2022). A novel molecular signature identifies mixed subtypes in renal cell carcinoma with poor prognosis and independent response to immunotherapy. Genome Medicine, 14:105.

Shlesinger, Danielle; Hong, Kai-Lin; Shammas, Ghazal; Page, Nicolas; Sandu, Ioana; Agrafiotis, Andreas; Kreiner, Victor; Fonta, Nicolas; Vincenti, Ilena; Wagner, Ingrid; Piccinno, Margot; Mariotte, Alexandre; Klimek, Bogna; Dizerens, Raphael; Manero-Carranza, Marcos; Kuhn, Raphael; Ehling, Roy; Frei, Lester; Khodaverdi, Keywan; Panetti, Camilla; Joller, Nicole; Oxenius, Annette; Merkler, Doron; Reddy, Sai T; Yermanos, Alexander (2022). Single-cell immune repertoire sequencing of B and T cells in murine models of infection and autoimmunity. Genes and immunity:183-195.

Kumar, Vikrant; Pouw, Richard B; Autio, Matias I; Sagmeister, Manfred G; Phua, Zai Yang; Borghini, Lisa; Wright, Victoria J; Hoggart, Clive; Pan, Bangfen; Tan, Antson Kiat Yee; Binder, Alexander; Brouwer, Mieke C; Pinnock, Ellie; De Groot, Ronald; Hazelzet, Jan; Emonts, Marieke; Van Der Flier, Michiel; Reiter, Karl; Nöthen, Markus M; Hoffmann, Per; EUCLIDS consortium; Schlapbach, Luregn J; Bellos, Evangelos; Anderson, Suzanne; Secka, Fatou; Martinón-Torres, Federico; Salas, Antonio; Fink, Colin; Carrol, Enitan D; Pollard, Andrew J; et al (2022). Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations. American Journal of Human Genetics, 109(9):1680-1691.

Grünert, Sarah C; Derks, Terry G J; Adrian, Katarina; et al; Häberle, Johannes; Horka, Laura Maria; Huemer, Martina (2022). Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire. Genetics in Medicine, 24(8):1781-1788.

Yverneau, Mathilde; Leroux, Stéphanie; Imbard, Apolline; et al; Huemer, Martina (2022). Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency. Journal of Inherited Metabolic Disease, 45(4):848-861.

Mütze, Ulrike; Gleich, Florian; Garbade, Sven F; Plisson, Céline; Baumgartner, Matthias R; Huemer, Martina; Aldámiz‐Echevarría, Luis; Arrieta, Francisco; Ballhausen, Diana; Zielonka, Matthias; Petković Ramadža, Danijela; Cano, Aline; García Jiménez, María Concepción; Dionisi‐Vici, Carlo; Ješina, Pavel; Blom, Henk J; Couce, Maria Luz; Meavilla Olivas, Silvia; Mention, Karine; Mochel, Fanny; Morris, Andrew A M; Mundy, Helen; Redonnet‐Vernhet, Isabelle; Santra, Saikat; Schiff, Manuel; Servais, Aude; Vitoria, Isidro; Kožich, Viktor; Kölker, Stefan (2022). Postauthorization safety study of betaine anhydrous. Journal of Inherited Metabolic Disease, 45(4):719-733.

Forny, Patrick; Plessl, Tanja; Frei, Caroline; Bürer, Celine; Froese, D Sean; Baumgartner, Matthias R (2022). Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria. Human Genetics, 141(7):1253-1267.

Bothou, Christina; Saleh, Lanja; von Eckardstein, Arnold; Beuschlein, Felix; Nowak, Albina (2022). COVID-19 in Fabry disease: a reference center prospective study. Orphanet Journal of Rare Diseases, 17:250.

Boets, Stephanie; Johannesen, Katrine M; Destree, Anne; Manti, Filippo; Ramantani, Georgia; Lesca, Gaetan; Vercueil, Laurent; Koenig, Mary Kay; Striano, Pasquale; Møller, Rikke Steensbjerre; Cooper, Edward; Weckhuysen, Sarah (2022). Adult phenotype of KCNQ2 encephalopathy. Journal of Medical Genetics, 59(6):528-535.

Fergin, Aleksandra; Boesch, Gabriel; Greter, Nadja R; Berger, Simon; Hajnal, Alex (2022). Tissue-specific inhibition of protein sumoylation uncovers diverse SUMO functions during C. elegans vulval development. PLoS Genetics, 18(6):e1009978.

Forny, Patrick; Wicht, Andrea; Rüfenacht, Véronique; Cremonesi, Alessio; Häberle, Johannes (2022). Recovery of enzyme activity in biotinidase deficient individuals during early childhood. Journal of Inherited Metabolic Disease, 45(3):605-620.

Kido, Jun; Häberle, Johannes; Sugawara, Keishin; Tanaka, Toju; Nagao, Masayoshi; Sawada, Takaaki; Wada, Yoichi; Numakura, Chikahiko; Murayama, Kei; Watanabe, Yoriko; Kojima-Ishii, Kanako; Sasai, Hideo; Kosugiyama, Kiyotaka; Nakamura, Kimitoshi (2022). Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan. Journal of Inherited Metabolic Disease, 45(3):431-444.

Tscherter, Anne; Rüsch, Christina T; Baumann, Dominique; Enzmann, Cornelia; Hasselmann, Oswald; Jacquier, David; Jung, Hans H; Kruijshaar, Michelle E; Kuehni, Claudia E; Neuwirth, Christoph; Stettner, Georg M; Klein, Andrea (2022). Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland. Neuromuscular Disorders : NMD, 32(5):399-409.

Saebnia, Neda; Ebrahimzadeh-Vesal, Reza; Haddad-Mashhadrizeh, Aliakbar; Gholampour-Faroji, Nazanin; Schinzel, Albert; Neshati, Zeinab; Azimi-Nezhad, Mohsen (2022). Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia. Journal of assisted reproduction and genetics, 39(5):1195-1203.

Yépez, Vicente A; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H; Alston, Charlotte L; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elżbieta; Distelmaier, Felix; Freisinger, Peter; Häberle, Johannes; Hayflick, Susan J; Hempel, Maja; Itkis, Yulia S; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Müller, Michaela F; Muñoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; et al (2022). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Medicine, 14(1):38.

Rambla, Jordi; Baudis, Michael; Ariosa, Roberto; Beck, Tim; Fromont, Lauren A; Navarro, Arcadi; Paloots, Rahel; Rueda, Manuel; Saunders, Gary; Singh, Babita; Spalding, John D; Törnroos, Juha; Vasallo, Claudia; Veal, Colin D; Brookes, Anthony J (2022). Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond. Human Mutation, 43(6):791-799.

Sowah, Solomon A; Milanese, Alessio; Schübel, Ruth; Wirbel, Jakob; Kartal, Ece; Johnson, Theron S; Hirche, Frank; Grafetstätter, Mirja; Nonnenmacher, Tobias; Kirsten, Romy; López-Nogueroles, Marina; Lahoz, Agustín; Schwarz, Kathrin V; Okun, Jürgen G; Ulrich, Cornelia M; Nattenmüller, Johanna; von Eckardstein, Arnold; Müller, Daniel; Stangl, Gabriele I; Kaaks, Rudolf; Kühn, Tilman; Zeller, Georg (2022). Calorie restriction improves metabolic state independently of gut microbiome composition: a randomized dietary intervention trial. Genome Medicine, 14:30.

Kaczmarek, Alexander Tobias; Bender, Daniel; Gehling, Titus; Kohl, Joshua Benedict; Daimagüler, Hülya‐Sevcan; Santamaria‐Araujo, José Angel; Liebau, Max Christoph; Koy, Anne; Cirak, Sebahattin; Schwarz, Guenter (2022). A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency. Journal of Inherited Metabolic Disease, 45(2):169-182.

Nowak, Albina; Haddad, George; Kistler, Andreas D; Nlandu-Khodo, Stellor; Beuschlein, Felix; Wüthrich, Rudolf P; Lorenzen, Johan M; Kölling, Malte (2022). Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes. Journal of Medical Genetics, 59(3):279-286.

Nowak, Albina; Beuschlein, Felix; Sivasubramaniam, Visnuka; Kasper, David; Warnock, David G (2022). Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease. Journal of Medical Genetics, 59(3):287-293.

Micale, Lucia; Morlino, Silvia; Carbone, Annalucia; Carissimo, Annamaria; et al; Giunta, Cecilia; Rohrbach, Marianne (2022). Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement. Genetics in Medicine, 24(2):439-453.

Quiring, Leonard; Walter, Björn; Lohaus, Niklas; Schwan, Dhanusha; Rech, Anja; Dlugos, Andrea; Rauen, Ursula (2022). Characterisation of cold-induced mitochondrial fission in porcine aortic endothelial cells. Molecular Medicine, 28:13.

Bösch, Florin; Zeltner, Nina A; Baumgartner, Matthias R; Huemer, Martina; Landolt, Markus A (2022). Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus. Orphanet Journal of Rare Diseases, 17(1):26.

Collaco, Joseph M; Raraigh, Karen S; Betz, Joshua; Aksit, Melis Atalar; Blau, Nenad; Brown, Jordan; Dietz, Harry C; MacCarrick, Gretchen; Nogee, Lawrence M; Sheridan, Molly B; Vernon, Hilary J; Beaty, Terri H; Louis, Thomas A; Cutting, Garry R (2022). Accurate assignment of disease liability to genetic variants using only population data. Genetics in Medicine, 24:87-99.

Oussalah, Abderrahim; Siblini, Youssef; Hergalant, Sébastien; et al; Froese, D Sean; Baumgartner, Matthias R (2022). Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clinical Epigenetics, 14:52.

Palles, Claire; West, Hannah D; Chew, Edward; et al; Koelzer, Viktor H (2022). Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. American Journal of Human Genetics, 109(5):953-960.

Cervantes-Gracia, Karla; Chahwan, Richard; Husi, Holger (2022). Integrative OMICS Data-Driven Procedure Using a Derivatized Meta-Analysis Approach. Frontiers in Genetics, 13:828786.

Rahman, Shamima; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Peters, Verena; Zschocke, Johannes (2022). Quo vadis now: Beyond genomics to an era of personalised medicine. Journal of Inherited Metabolic Disease, 45(2):129-131.

2021

Morrison, T; Bösch, F; Landolt, Markus A; Kožich, Viktor; Huemer, Martina; Morris, Andrew A M (2021). Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction. Orphanet Journal of Rare Diseases, 16:124.

Blazsik, Reka Maria; Beeler, Patrick Emanuel; Tarcak, Karol; Cheetham, Marcus; von Wyl, Viktor; Dressel, Holger (2021). Impact of single and combined rare diseases on adult inpatient outcomes: a retrospective, cross-sectional study of a large inpatient population. Orphanet Journal of Rare Diseases, 16:105.

Häberle, Johannes; Moore, Marvin B; Haskins, Nantaporn; Rüfenacht, Véronique; Rokicki, Dariusz; Rubio‐Gozalbo, Estela; Tuchman, Mendel; Longo, Nicola; Yandell, Mark; Andrews, Ashley; AhMew, Nicholas; Caldovic, Ljubica (2021). Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. Human Mutation, 42(12):1624-1636.

Bernardo-Faura, Marti; Rinas, Melanie; Wirbel, Jakob; Pertsovskaya, Inna; Pliaka, Vicky; Messinis, Dimitris E; Vila, Gemma; Sakellaropoulos, Theodore; Faigle, Wolfgang; Stridh, Pernilla; Behrens, Janina R; Olsson, Tomas; Martin, Roland; Paul, Friedemann; Alexopoulos, Leonidas G; Villoslada, Pablo; Saez-Rodriguez, Julio (2021). Prediction of combination therapies based on topological modeling of the immune signaling network in multiple sclerosis. Genome Medicine, 13:117.

Bassanese, Giulia; Wlodkowski, Tanja; Servais, Aude; Heidet, Laurence; Roccatello, Dario; Emma, Francesco; Levtchenko, Elena; Ariceta, Gema; Bacchetta, Justine; Capasso, Giovambattista; Jankauskiene, Augustina; Miglinas, Marius; Ferraro, Pietro Manuel; Montini, Giovanni; Oh, Jun; Decramer, Stephane; Levart, Tanja Kersnik; Wetzels, Jack; Cornelissen, Elisabeth; Devuyst, Olivier; Zurowska, Aleksandra; Pape, Lars; Buescher, Anja; Haffner, Dieter; Marcun Varda, Natasa; Ghiggeri, Gian Marco; Remuzzi, Giuseppe; Konrad, Martin; Longo, Germana; Bockenhauer, Detlef; et al (2021). The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results. Orphanet Journal of Rare Diseases, 16(1):251.

Kido, Jun; Matsumoto, Shirou; Häberle, Johannes; Inomata, Yukihiro; Kasahara, Mureo; Sakamoto, Seisuke; Horikawa, Reiko; Tanemura, Akihiro; Okajima, Hideaki; Suzuki, Tatsuya; Nakamura, Kimitoshi (2021). Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan. Journal of Inherited Metabolic Disease, 44(6):1311-1322.

VanSickle, Elizabeth A; Michael, Julianne; Bachmann, André S; Rajasekaran, Surender; Prokop, Jeremy W; Kuzniecky, Ruben; Hofstede, Floris C; Steindl, Katharina; Rauch, Anita; Lipson, Mark H; Bupp, Caleb P (2021). Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome. American Journal of Medical Genetics. Part A, 185(11):3485-3493.

Hettmer, Simone; Dachy, Guillaume; Seitz, Guido; Agaimy, Abbas; Duncan, Catriona; Jongmans, Marjolijn; Hirsch, Steffen; Kventsel, Iris; Kordes, Uwe; de Krijger, Ronald R; Metzler, Markus; Michaeli, Orli; Nemes, Karolina; Poluha, Anna; Ripperger, Tim; Russo, Alexandra; Smetsers, Stephanie; Sparber-Sauer, Monika; Stutz, Eveline; Bourdeaut, Franck; Kratz, Christian P; Demoulin, Jean-Baptiste (2021). Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group. Familial cancer, 20(4):327-336.

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; et al; German Competence Network for Congenital Heart Defects; et al; Steindl, Katharina; Rauch, Anita (2021). Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genetics in Medicine, 23(10):1952-1960.

Dries, Annika M; Kirillova, Anna; Reuter, Chloe M; Garcia, John; Zouk, Hana; Hawley, Megan; Murray, Brittney; Tichnell, Crystal; Pilichou, Kalliopi; Protonotarios, Alexandros; Medeiros-Domingo, Argelia; Kelly, Melissa A; Baras, Aris; Ingles, Jodie; Semsarian, Christopher; Bauce, Barbara; Celeghin, Rudy; Basso, Cristina; Jongbloed, Jan D H; Nussbaum, Robert L; Funke, Birgit; Cerrone, Marina; Mestroni, Luisa; Taylor, Matthew R G; Sinagra, Gianfranco; Merlo, Marco; Saguner, Ardan M; Elliott, Perry M; Syrris, Petros; van Tintelen, J Peter; et al (2021). The genetic architecture of Plakophilin 2 cardiomyopathy. Genetics in Medicine, 23(10):1961-1968.

Cuénod, Aline; Wüthrich, Daniel; Seth-Smith, Helena M B; Ott, Chantal; Gehringer, Christian; Foucault, Frédéric; Mouchet, Roxanne; Kassim, Ali; Revathi, Gunturu; Vogt, Deborah R; von Felten, Stefanie; Bassetti, Stefano; Tschudin-Sutter, Sarah; Hettich, Timm; Schlotterbeck, Götz; Homberger, Christina; Casanova, Carlo; Moran-Gilad, Jacob; Sagi, Orli; Rodríguez-Sánchez, Belén; Müller, Franco; Aerni, Martina; Gaia, Valeria; van Dessel, Helke; Kampinga, Greetje A; Müller, Claudia; Daubenberger, Claudia; Pflüger, Valentin; Egli, Adrian (2021). Whole-genome sequence-informed MALDI-TOF MS diagnostics reveal importance of Klebsiella oxytoca group in invasive infections: a retrospective clinical study. Genome Medicine, 13:150.

Corrêa, Thiago; Feltes, Bruno César; Schinzel, Albert; Riegel, Mariluce; Riegel, Mariluce (2021). Network-based analysis using chromosomal microdeletion syndromes as a model. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 187(3):337-348.

Generali, Melanie; Satheesha, Sampoorna; Bode, Peter K; Wanner, Debora; Schäfer, Beat W; Casanova, Elisa A (2021). High Frequency of Tumor Propagating Cells in Fusion-Positive Rhabdomyosarcoma. Genes, 12(9):17.

Song, Fei; Owczarek-Lipska, Marta; Ahmels, Tim; Book, Marius; Aisenbrey, Sabine; Menghini, Moreno; Barthelmes, Daniel; Schrader, Stefan; Spital, Georg; Neidhardt, John (2021). High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies. Genes, 12(8):1269.

Herle, Marion; Brunner-Krainz, Michaela; Karall, Daniela; Goeschl, Bernadette; Möslinger, Dorothea; Zobel, Joachim; Plecko, Barbara; Scholl-Bürgi, Sabine; Spenger, Johannes; Wortmann, Saskia B; Huemer, Martina (2021). A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria. Orphanet Journal of Rare Diseases, 16:367.

Kocher, Agnes; Ndosi, Mwidimi; Denhaerynck, Kris; Simon, Michael; Dwyer, Andrew A; Distler, Oliver; Hoeper, Kirsten; Künzler-Heule, Patrizia; Redmond, Anthony C; Villiger, Peter M; Walker, Ulrich A; Nicca, Dunja (2021). A rare disease patient-reported outcome measure: revision and validation of the German version of the Systemic Sclerosis Quality of Life Questionnaire (SScQoL) using the Rasch model. Orphanet Journal of Rare Diseases, 16(1):356.

Patriki, D; Baltensperger, N; Berg, J; Cooper, L T; Kissel, C K; Kottwitz, J; Lovrinovic, M; Manka, R; Scherff, F; Schmied, C; Tanner, F C; Luescher, T F; Heidecker, Bettina (2021). A Prospective Pilot Study to Identify a Myocarditis Cohort who may Safely Resume Sports Activities 3 Months after Diagnosis. Journal of Cardiovascular Translational Research, 14(4):670-673.

Zanoni, Paolo; Steindl, Katharina; Sengupta, Deepanwita; Joset, Pascal; Bahr, Angela; Sticht, Heinrich; Lang-Muritano, Mariarosaria; et al; Zweier, Markus; Gozani, Or; Rauch, Anita (2021). Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Genetics in Medicine, 23(8):1474-1483.

Cao, Xuanye; Wolf, Annika; Kim, Sung-Eun; Cabrera, Robert M; Wlodarczyk, Bogdan J; Zhu, Huiping; Parker, Margaret; Lin, Ying; Steele, John W; Han, Xiao; Ramaekers, Vincent T; Steinfeld, Robert; Finnell, Richard H; Lei, Yunping (2021). CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression. Journal of Medical Genetics, 58(7):484-494.

Kido, Jun; Matsumoto, Shirou; Häberle, Johannes; Nakajima, Yoko; Wada, Yoichi; Mochizuki, Narutaka; Murayama, Kei; Lee, Tomoko; Mochizuki, Hiroshi; Watanabe, Yoriko; Horikawa, Reiko; Kasahara, Mureo; Nakamura, Kimitoshi (2021). Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan. Journal of Inherited Metabolic Disease, 44(4):826-837.

Parenti, Ilaria; Lehalle, Daphné; Nava, Caroline; Torti, Erin; et al; Undiagnosed Diseases Network; Friedman, Jennifer; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2021). Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human Genetics, 140(7):1109-1120.

Zimmermann, Bettina M; Eichinger, Johanna; Baumgartner, Matthias R (2021). A systematic review of moral reasons on orphan drug reimbursement. Orphanet Journal of Rare Diseases, 16:292.

Ak, Melike; Kahraman, Abdullah; Arnold, Fabian M; Turko, Patrick; Levesque, Mitchell P; Zoche, Martin; Ramelyte, Egle; Dummer, Reinhard (2021). Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden. Genes, 12(7):974.

Peluso, Francesca; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Trimarchi, Gabriele; Ivanovski, Ivan; et al (2021). Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples. Genes, 12:962.

Frese, Laura; Darwiche, Salim E; von Rechenberg, Brigitte; Hoerstrup, Simon P; Giovanoli, Pietro; Calcagni, Maurizio (2021). Thermal conditioning improves quality and speed of keratinocyte sheet production for burn wound treatment. Cytotherapy, 23(6):536-547.

Li, Bei; Chen, Meiling; Aguzzi, Adriano; Zhu, Caihong (2021). The role of macrophage scavenger receptor 1 (Msr1) in prion pathogenesis. Journal of Molecular Medicine, 99(6):877-887.

Simic, Dario; Dummer, Reinhard; Freiberger, Sandra N; Ramelyte, Egle; Barysch, Marjam-Jeanette (2021). Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome. Genes, 12(5):781.

Gao, Bo; Baudis, Michael (2021). Signatures of Discriminative Copy Number Aberrations in 31 Cancer Subtypes. Frontiers in Genetics, 12:654887.

Lieberwirth, Johann Kaspar; Joset, Pascal; Heinze, Anja; Hentschel, Julia; Stein, Anja; Iannaccone, Antonella; Steindl, Katharina; Kuechler, Alma; Abou Jamra, Rami (2021). Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. European Journal of Human Genetics, 29(5):808-815.

Marelli, Cecilia; Lavigne, Christian; Stepien, Karolina M; Janssen, Mirian C H; Feillet, Francois; Kožich, Viktor; Jesina, Pavel; Schule, Rebecca; Kessler, Christoph; Redonnet‐Vernhet, Isabelle; Regnier, Adeline; Burda, Patricie; Baumgartner, Matthias; Benoist, Jean‐Francois; Huemer, Martina; Mochel, Fanny (2021). Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency. Journal of Inherited Metabolic Disease, 44(3):777-786.

Lieberwirth, Johann Kaspar; Joset, Pascal; Heinze, Anja; Hentschel, Julia; Stein, Anja; Iannaccone, Antonella; Steindl, Katharina; Kuechler, Alma; Jamra, Rami Abou (2021). Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. European Journal of Human Genetics, 29(5):887.

Kožich, Viktor; Sokolová, Jitka; Morris, Andrew A M; Pavlíková, Markéta; Gleich, Florian; Kölker, Stefan; Krijt, Jakub; Dionisi‐Vici, Carlo; Baumgartner, Matthias R; Blom, Henk J; Huemer, Martina (2021). Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis. Journal of Inherited Metabolic Disease, 44(3):677-692.

Märtner, E M Charlotte; Maier, Esther M; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A; Marquardt, Thorsten; Santer, René; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M; Freisinger, Peter; Grünert, Sarah C; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R; Beblo, Skadi; Dieckmann, Andrea; Näke, Andrea; Lindner, Martin; Heringer‐Seifert, Jana; Lenz, Dominic; Hoffmann, Georg F; Mühlhausen, Chris; Ensenauer, Regina; Garbade, Sven F; Kölker, Stefan; Boy, Nikolas (2021). Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study. Journal of Inherited Metabolic Disease, 44(3):629-638.

Forny, Patrick; Hörster, Friederike; Ballhausen, Diana; Chakrapani, Anupam; et al; Huemer, Martina; Baumgartner, Matthias R (2021). Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Journal of Inherited Metabolic Disease, 44(3):566-592.

Corrêa, Thiago; Santos-Rebouças, Cíntia B; Mayndra, Maytza; Schinzel, Albert; Riegel, Mariluce; Riegel, Mariluce (2021). Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications. Genes, 12:632.

Sato, Yasuhiro; Yamamoto, Eiji; Shimizu, Kentaro K; Nagano, Atsushi J (2021). Neighbor GWAS: incorporating neighbor genotypic identity into genome-wide association studies of field herbivory. Heredity, 126(4):597-614.

von Spreckelsen, Niklas; Fadzen, Colin M; Hartrampf, Nina; Ghotmi, Yarah; Wolfe, Justin M; Dubey, Shipra; Yang, Bo Yeun; Kijewski, Marie F; Wang, Shuyan; Farquhar, Charlotte; Bergmann, Sonja; Zdioruk, Mykola; Wasserburg, J Roscoe; Scott, Benjamin; Murrell, Emily; Bononi, Fernanda C; Luyt, Leonard G; DiCarli, Marcelo; Lamfers, Martine L M; Ligon, Keith L; Chiocca, E Antonio; Viapiano, Mariano S; Pentelute, Bradley L; Lawler, Sean E; Cho, Choi‐Fong (2021). Targeting Glioblastoma Using a Novel Peptide Specific to a Deglycosylated Isoform of Brevican. Advanced Therapeutics, 4(4):2000244.

Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernandez-Garcia, Andres; et al; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2021). SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American Journal of Human Genetics, 108(3):502-516.

Harris, Holly K; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; et al; Asadollahi, Reza; Boonsawat, Paranchai; Rauch, Anita (2021). Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine:1-13.

Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A; et al; Rauch, Anita (2021). DLG4-related synaptopathy: a new rare brain disorder. Genetics in Medicine:1-12.

Johannsen, Emma B; Baughn, Linda B; Sharma, Neeraj; Zjacic, Nicolina; Pirooznia, Mehdi; Elhaik, Eran (2021). The Genetics of Sudden Infant Death Syndrome-Towards a Gene Reference Resource. Genes, 12:216.

Fernandez-Garcia, Miguel A; Stettner, Georg M; Kinali, Maria; Clarke, Antonia; Fallon, Penny; Knirsch, Ursula; Wraige, Elizabeth; Jungbluth, Heinz (2021). Genetic neuropathies presenting with CIDP-like features in childhood. Neuromuscular Disorders : NMD, 31(2):113-122.

Schröder, Simone; Li, Yun; Yigit, Gökhan; Altmüller, Janine; Bader, Ingrid; Bevot, Andrea; Biskup, Saskia; Dreha-Kulaczewski, Steffi; Christoph Korenke, G; Kottke, Raimund; Mayr, Johannes A; Preisel, Martin; Toelle, Sandra P; Wente-Schulz, Sarah; Wortmann, Saskia B; Hahn, Heidi; Boltshauser, Eugen; Uhmann, Anja; Wollnik, Bernd; Brockmann, Knut (2021). Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia. Genetics in Medicine, 23(2):341-351.

Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; et al; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2021). The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genetics in Medicine, 23(2):352-362.

Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Kuechler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas (2021). One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. Orphanet Journal of Rare Diseases, 16:42.

Haug, Patricia; Koller, Samuel; Maggi, Jordi; Lang, Elena; Feil, Silke; Wlodarczyk, Agnès; Bähr, Luzy; Steindl, Katharina; Rohrbach, Marianne; Gerth-Kahlert, Christina; Berger, Wolfgang (2021). Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes, 12(1):E65.

Benson, Matthew D; Plemel, David J A; Freund, Paul R; Lewis, James R; Sass, Jörn Oliver; Bähr, Luzy; Gemperle-Britschgi, Corinne; Ferreira, Patrick; MacDonald, Ian M (2021). Severe retinal degeneration in a patient with Canavan disease. Ophthalmic Genetics, 42(1):75-78.

Ferreira, Carlos R; Rahman, Shamima; Keller, Markus; Zschocke, Johannes; et al; Baumgartner, Matthias R (2021). An International Classification of Inherited Metabolic Disorders (ICIMD). Journal of Inherited Metabolic Disease, 44:164-177.

Hörster, Friederike; Tuncel, Ali Tunç; Gleich, Florian; Plessl, Tanja; Froese, Sean D; Garbade, Sven F; Kölker, Stefan; Baumgartner, Matthias R (2021). Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut. Journal of Inherited Metabolic Disease, 44(1):193-214.

Dimitrov, Bianca; Molema, Femke; Williams, Monique; Schmiesing, Jessica; Mühlhausen, Chris; Baumgartner, Matthias R; Schumann, Anke; Kölker, Stefan (2021). Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise. Journal of Inherited Metabolic Disease, 44(1):9-21.

Gnoli, Maria; Brizola, Evelise; Tremosini, Morena; Pedrini, Elena; Maioli, Margherita; Mosca, Massimiliano; Bassotti, Alessandra; Castronovo, Paola; Giunta, Cecilia; Sangiorgi, Luca (2021). COL1-Related Disorders: Case Report and Review of Overlapping Syndromes. Frontiers in Genetics, 12:640558.

Pischedda, Sara; O’Connor, Daniel; Fairfax, Benjamin P; Salas, Antonio; Martinon-Torres, Federico; Pollard, Andrew J; Trück, Johannes (2021). Changes in epigenetic profiles throughout early childhood and their relationship to the response to pneumococcal vaccination. Clinical Epigenetics, 13:29.

Lichtensteiger, Walter; Bassetti-Gaille, Catherine; Rehrauer, Hubert; Georgijevic, Jelena Kühn; Tresguerres, Jesus A F; Schlumpf, Margret (2021). Converging Effects of Three Different Endocrine Disrupters on Sox and Pou Gene Expression in Developing Rat Hippocampus: Possible Role of microRNA in Sex Differences. Frontiers in Genetics, 12:718796.

Schumann, Anke; Belche, Véronique; Schaller, Kristin; Grünert, Sarah C; Kaech, Andres; Baumgartner, Matthias R; Kölker, Stefan; Hannibal, Luciana; Spiekerkoetter, Ute (2021). Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria. Journal of Inherited Metabolic Disease, 44(6):1330-1342.

Lim, Pei Jin; Marfurt, Severin; Lindert, Uschi; Opitz, Lennart; Ndarugendamwo, Timothée; Srikanthan, Pakeerathan; Poms, Martin; Hersberger, Martin; Langhans, Claus-Dieter; Haas, Dorothea; Rohrbach, Marianne; Giunta, Cecilia (2021). Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta. Frontiers in Genetics, 12:662751.

2020

Amaral, Ana R; Chanfana, Cátia; Smith, Brian D; Mansur, Rubaiyat; Collins, Tim; Baldwin, Robert; Minton, Gianna; Parra, Guido J; Krützen, Michael; Jefferson, Thomas A; Karczmarski, Leszek; Guissamulo, Almeida; Brownell, Robert L; Rosenbaum, Howard C (2020). Genomics of Population Differentiation in Humpback Dolphins, Sousa spp. in the Indo-Pacific Ocean. Journal of Heredity, 111(7):652-660.

O'Reilly, Daniel; Crushell, Ellen; Hughes, Joanne; et al; Rüfenacht, Véronique; Häberle, Johannes (2020). Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland. Journal of Inherited Metabolic Disease, 44(3):639-655.

Opladen, Thomas; López-Laso, Eduardo; Cortès-Saladelafont, Elisenda; Pearson, Toni S; et al; Thöny, Beat (2020). Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet Journal of Rare Diseases, 15:202.

Antoine, Daniel James; Williams, Dominic P; Kipar, Anja; Laverty, Hugh; Park, B Kevin (2020). Expression of Concern to: Diet restriction inhibits apoptosis and HMGB1 oxidation and promotes inflammatory cell recruitment during acetaminophen hepatoxicity. Molecular Medicine, 26:13.

Martens, Helge; Hennies, Imke; Getwan, Maike; Christians, Anne; Weiss, Anna-Carina; Brand, Frank; Gjerstad, Ann Christin; Christians, Arne; Gucev, Zoran; Geffers, Robert; Seeman, Tomáš; Kispert, Andreas; Tasic, Velibor; Bjerre, Anna; Lienkamp, Soeren Sten; Haffner, Dieter; Weber, Ruthild G (2020). Rare heterozygous GDF6 variants in patients with renal anomalies. European Journal of Human Genetics, 28(12):1681-1693.

Antoine, Daniel James; Williams, Dominic P; Kipar, Anja; Laverty, Hugh; Park, B Kevin (2020). Retraction Note: Diet restriction inhibits apoptosis and HMGB1 oxidation and promotes inflammatory cell recruitment during acetaminophen hepatotoxicity. Molecular Medicine, 26(1):130.

Primo, Pasquale; Meccariello, Angela; Inghilterra, Maria Grazia; Gravina, Andrea; Del Corsano, Giuseppe; Volpe, Gennaro; Sollazzo, Germano; Aceto, Serena; Robinson, Mark D; Salvemini, Marco; Saccone, Giuseppe (2020). Targeting the autosomal Ceratitis capitata transformer gene using Cas9 or dCas9 to masculinize XX individuals without inducing mutations. BMC Genetics, 21(Suppl 2):150.

Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Ivanovski, Ivan; Maini, Ilenia; Pollazzon, Marzia; et al (2020). Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. American Journal of Medical Genetics. Part A, 182(12):2877-2886.

Roifman, Maian; Niles, Kirsten M; MacNeil, Lauren; Blaser, Susan; Noor, Abdul; Godoy, Ruth; van Mieghem, Tim; Ryan, Greg; Seaward, Gareth; Sondheimer, Neal; Mercimek-Andrews, Saadet; Schulze, Andreas; Hewson, Stacy; Ovadia, Adi; Chitayat, David; Morgen, Eric K; Hojilla, Carlo; Kolomietz, Elena; Watkins, Nicholas; Häberle, Johannes; Shannon, Patrick (2020). Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency. Clinical Genetics, 98(6):613-619.

Begemann, Anaïs; Sticht, Heinrich; Begtrup, Amber; Vitobello, Antonio; Faivre, Laurence; Asadollahi, Reza; Zweier, Markus; Steindl, Katharina; Rauch, Anita (2020). New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. Genetics in Medicine:0.

Picart-Picolo, Ariadna; Grob, Stefan; Picault, Nathalie; Franek, Michal; Llauro, Christel; Halter, Thierry; Maier, Tom R; Jobet, Edouard; Descombin, Julie; Zhang, Panpan; Paramasivan, Vijayapalani; Baum, Thomas J; Navarro, Lionel; Dvořáčková, Martina; Mirouze, Marie; Pontvianne, Frédéric (2020). Large tandem duplications affect gene expression, 3D organization, and plant–pathogen response. Genome Research, 30(11):1583-1592.

Epting, Daniel; Senaratne, Lokuliyange D S; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika; et al; Lienkamp, Soeren Sten (2020). Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Human Mutation, 41(12):2179-2194.

Arzate-Mejía, Rodrigo G; Lottenbach, Zuzanna; Schindler, Vincent; Jawaid, Ali; Mansuy, Isabelle M (2020). Long-Term Impact of Social Isolation and Molecular Underpinnings. Frontiers in Genetics, 11:589621.

Marbach, Felix; Elgizouli, Magdeldin; Rech, Megan; Beygo, Jasmin; Erger, Florian; Velmans, Clara; Stumpel, Constance T R M; Stegmann, Alexander P A; Beck-Wödl, Stefanie; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Schaaf, Christian P; Kuechler, Alma (2020). The adult phenotype of Schaaf-Yang syndrome. Orphanet Journal of Rare Diseases, 15:294.

Sun, Jianqiang; Shimizu-Inatsugi, Rie; Hofhuis, Hugo; Shimizu, Kentaro; Hay, Angela; Shimizu, Kentaro K; Sese, Jun (2020). A Recently Formed Triploid Cardamine insueta Inherits Leaf Vivipary and Submergence Tolerance Traits of Parents. Frontiers in Genetics, 11:567262.

Rymen, Daisy; Lindhout, Martijn; Spanou, Maria; Ashrafzadeh, Farah; Benkel, Ira; Betzler, Cornelia; Coubes, Christine; Hartmann, Hans; Kaplan, Julie D; Ballhausen, Diana; Koch, Johannes; Lotte, Jan; Mohammadi, Mohammad Hasan; Rohrbach, Marianne; Dinopoulos, Argirios; Wermuth, Marieke; Willis, Daniel; Brugger, Karin; Wevers, Ron A; Boltshauser, Eugen; Bierau, Jörgen; Mayr, Johannes A; Wortmann, Saskia B (2020). Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation. Genetics in Medicine, 22(10):1589-1597.

Kottwitz, Jan; Bruno, Katelyn A; Berg, Jan; Salomon, Gary R; Fairweather, DeLisa; Elhassan, Mawahib; Baltensperger, Nora; Kissel, Christine K; Lovrinovic, Marina; Baltensweiler, Andrea; Schmied, Christian; Templin, Christian; Lima, Joao A C; Landmesser, Ulf; Lüscher, Thomas F; Manka, Robert; Heidecker, Bettina (2020). Myoglobin for Detection of High-Risk Patients with Acute Myocarditis. Journal of Cardiovascular Translational Research, 13(5):853-863.

Paape, Timothy; Akiyama, Reiko; Cereghetti, Teo; Onda, Yoshihiko; Hirao, Akira S; Kenta, Tanaka; Shimizu, Kentaro K (2020). Experimental and Field Data Support Range Expansion in an Allopolyploid Arabidopsis Owing to Parental Legacy of Heavy Metal Hyperaccumulation. Frontiers in Genetics, 11:1162.

Paul, Luisa; Rupprich, Katrin; Della Marina, Adela; Stein, Anja; Elgizouli, Magdeldin; Kaiser, Frank J; Schweiger, Bernd; Köninger, Angela; Iannaccone, Antonella; Hehr, Ute; Kölbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike; Kuechler, Alma (2020). Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet Journal of Rare Diseases, 15:242.

Mathis, Déborah; Beese, Karin; Rüegg, Carmen; Plecko, Barbara; Hersberger, Martin (2020). LC‐MS / MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies. Journal of Inherited Metabolic Disease, 43(5):1102-1111.

Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Peters, Verena; Rahman, Shamima (2020). Newborn screening: To WES or not to WES, that is the question. Journal of Inherited Metabolic Disease, 43(5):904-905.

Suter, Aude-Annick; Santos-Simarro, Fernando; Toerring, Pernille Mathiesen; Abad Perez, Angela; Ramos-Mejia, Rosario; Heath, Karen E; Huckstadt, Victoria; Parrón-Pajares, Manuel; Mensah, Martin Atta; Hülsemann, Wiebke; Holtgrewe, Manuel; Mundlos, Stefan; Kornak, Uwe; Bartsch, Oliver; Ehmke, Nadja (2020). Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics. Part A, 182(9):2068-2076.

Kamat, Pranitha; Frueh, Florian S; McLuckie, Michelle; Sanchez-Macedo, Nadia; Wolint, Petra; Lindenblatt, Nicole; Plock, Jan A; Calcagni, Maurizio; Buschmann, Johanna (2020). Adipose tissue and the vascularization of biomaterials: Stem cells, microvascular fragments and nanofat-a review. Cytotherapy, 22(8):400-411.

Asadollahi, Reza; Britschgi, Christian; Joset, Pascal; Oneda, Beatrice; Schindler, Detlev; Meier, Urs R; Rauch, Anita (2020). Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene). Molecular Genetics & Genomic Medicine:e1409.

Mahendiran, Thabo; Nanchen, David; Gencer, Baris; Meier, David; Klingenberg, Roland; Räber, Lorenz; Carballo, David; Matter, Christian M; Lüscher, Thomas F; Windecker, Stephan; Mach, François; Rodondi, Nicolas; Muller, Olivier; Fournier, Stephane (2020). Prognosis of Patients with Chronic and Hospital-Acquired Anaemia After Acute Coronary Syndromes. Journal of Cardiovascular Translational Research, 13(4):618-628.

Kappler, Katharina; Hennet, Thierry (2020). Emergence and significance of carbohydrate-specific antibodies. Genes and immunity, 21(4):224-239.

Rashka, Charif; Hergalant, Sébastien; Dreumont, Natacha; Oussalah, Abderrahim; Camadro, Jean-Michel; Marchand, Virginie; Hassan, Ziad; Baumgartner, Matthias R; Rosenblatt, David S; Feillet, François; Guéant, Jean-Louis; Flayac, Justine; Coelho, David (2020). Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing. Human Molecular Genetics, 29(12):1969-1985.

Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Niederländer, Nicolas J; Rademaker, Jesse D; Meylan, Jenny; Messina, Andrea; Kolesinska, Zofia; Quinton, Richard; Lang-Muritano, Mariarosaria; Bartholdi, Deborah; Halperin, Irene; De Geyter, Christian; Bouligand, Jérôme; Bartoloni, Lucia; Young, Jacques; Santoni, Federico A; Pitteloud, Nelly (2020). Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism. Genetics in Medicine, 22(11):1759-1767.

Meerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; et al; Rauch, Anita (2020). A clinical scoring system for congenital contractural arachnodactyly. Genetics in Medicine, 22(1):124-131.

Maggi, Jordi; Roberts, Lisa; Koller, Samuel; Rebello, George; Berger, Wolfgang; Ramesar, Rajkumar (2020). De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline. Genes, 11(7):800.

Asadollahi, Hamid; Vakili, Mahmoud; Asadollahi, Reza (2020). Applying Rogers' framework to evaluate public awareness and knowledge of medical genetics in a developing country. Journal of Community Genetics, 11(3):367-375.

Martinelli, Diego; Fiermonte, Giuseppe; Häberle, Johannes; Boenzi, Sara; Goffredo, Bianca Maria; Travaglini, Lorena; Agolini, Emanuele; Porcelli, Vito; Dionisi-Vici, Carlo (2020). CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. European Journal of Human Genetics, 28(7):982-987.

Ziegler, Georg C; Röser, Christoph; Renner, Tobias; Hahn, Tim; Ehlis, Ann-Christine; Weber, Heike; Dempfle, Astrid; Walitza, Susanne; Jacob, Christian; Romanos, Marcel; Fallgatter, Andreas J; Reif, Andreas; Lesch, Klaus-Peter (2020). KCNJ6 variants modulate reward-related brain processes and impact executive functions in attention-deficit/hyperactivity disorder. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 183(5):247-257.

Klinke, Glynis; Richter, Sylvia; Monostori, Péter; Schmidt-Mader, Brigitte; García-Cazorla, Angels; Artuch, Rafael; Christ, Stine; Opladen, Thomas; Hoffmann, Georg F; Blau, Nenad; Okun, Jürgen G (2020). Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform. Journal of Inherited Metabolic Disease, 43(4):712-725.

Herger, Aline; Gupta, Shibu; Kadler, Gabor; Franck, Christina Maria; Boisson-Dernier, Aurélien; Ringli, Christoph (2020). Overlapping functions and protein-protein interactions of LRR-extensins in Arabidopsis. PLoS Genetics, 16(6):e1008847.

Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; et al (2020). Mowat-Wilson syndrome: growth charts. Orphanet Journal of Rare Diseases, 15:151.

Haller, Otto; Kochs, Georg (2020). Mx genes: host determinants controlling influenza virus infection and trans-species transmission. Human Genetics, 139(6-7):695-705.

Nasser, Hala; Vera, Liza; Elmaleh-Bergès, Monique; Steindl, Katharina; Letard, Pascaline; Teissier, Natacha; Ernault, Anais; Guimiot, Fabien; Afenjar, Alexandra; Moutard, Marie Laure; Héron, Delphine; Alembik, Yves; Momtchilova, Martha; Milani, Paolo; Kubis, Nathalie; Pouvreau, Nathalie; Zollino, Marcella; Guilmin Crepon, Sophie; Kaguelidou, Florentia; Gressens, Pierre; Verloes, Alain; Rauch, Anita; El Ghouzzi, Vincent; Drunat, Severine; Passemard, Sandrine (2020). CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. Journal of Medical Genetics, 57(6):389-399.

Filli, Linard; Schwegler, Selina; Meyer, Christian; Killeen, Tim; Easthope, Christopher S; Broicher, Sarah D; Curt, Armin; Zörner, Björn; Bolliger, Marc; Jung, Hans H; Petersen, Jens A (2020). Characterizing cognitive-motor impairments in patients with myotonic dystrophy type 1. Neuromuscular Disorders : NMD, 30(6):510-520.

Hiltpold, Maya; Niu, Guanglin; Kadri, Naveen Kumar; Crysnanto, Danang; Fang, Zih-Hua; Spengeler, Mirjam; Schmitz-Hsu, Fritz; Fuerst, Christian; Schwarzenbacher, Hermann; Seefried, Franz R; Seehusen, Frauke; Witschi, Ulrich; Schnieke, Angelika; Fries, Ruedi; Bollwein, Heiner; Flisikowski, Krzysztof; Pausch, Hubert (2020). Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility. PLoS Genetics, 16(5):e1008804.

Ansar, Muhammad; Ebstein, Frédéric; Özkoç, Hayriye; Paracha, Sohail A; Iwaszkiewicz, Justyna; Gesemann, Matthias; Zoete, Vincent; Ranza, Emmanuelle; Santoni, Federico A; Sarwar, Muhammad T; Ahmed, Jawad; Krüger, Elke; Bachmann-Gagescu, Ruxandra; Antonarakis, Stylianos E (2020). Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Human Molecular Genetics, 29(7):1132-1143.

Koch, Eva L; Guillaume, Frédéric (2020). Additive and mostly adaptive plastic responses of gene expression to multiple stress in Tribolium castaneum. PLoS Genetics, 16(5):e1008768.

Bosch, Pablo Sanchez; Pepperl, Julia; Basler, Konrad (2020). Anchor away – A fast, reliable and reversible technique to inhibit proteins in Drosophila melanogaster. G3 : Genes, Genomes, Genetics, 10(5):1745-1752.

Heeb, Lukas E M; Egholm, Cecilie; Boyman, Onur (2020). Evolution and function of interleukin-4 receptor signaling in adaptive immunity and neutrophils. Genes and immunity, 21(3):143-149.

Zielonka, Matthias; Garbade, Sven F; Gleich, Florian; Okun, Jürgen G; Nagamani, Sandesh C S; Gropman, Andrea L; Hoffmann, Georg F; Kölker, Stefan; Posset, Roland; Ah Mew, Nicholas; Burrage, Lindsay C; Schulze, Andreas; Berry, Susan A; Baumgartner, Matthias R; Diaz, George A; Merritt, J Lawrence; Bedoyan, Jirair K; Wong, Derek; Harding, Cary O; Yudkoff, Marc; Garcia‐Cazorla, Angeles; Cortès‐Saladelafont, Elisenda; Lund, Allan M; Dionisi‐Vici, Carlo; Burlina, Alberto B; Morris, Andrew A; Freisinger, Peter; Walter, Magdalena E; Jalan, Anil; Schiff, Manuel; Dobbelaere, Dries; Bosch, Annet M; Ioannou, Harikleia; Barić, Ivo (2020). From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria. Human Mutation, 41(5):946-960.

Lilleväli, Hardo; Pajusalu, Sander; Wojcik, Monica H; Goodrich, Julia; Collins, Ryan L; Murumets, Ülle; Tammur, Pille; Blau, Nenad; Lilleväli, Kersti; Õunap, Katrin (2020). Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Molecular Genetics & Genomic Medicine, 8(4):e1154.

Wierzbinska, Justyna A; Toth, Reka; Ishaque, Naveed; Rippe, Karsten; Mallm, Jan-Philipp; Klett, Lara C; Mertens, Daniel; Zenz, Thorsten; Hielscher, Thomas; Seifert, Marc; Küppers, Ralf; Assenov, Yassen; Lutsik, Pavlo; Stilgenbauer, Stephan; Roessner, Philipp M; Seiffert, Martina; Byrd, John; Oakes, Christopher C; Plass, Christoph; Lipka, Daniel B (2020). Methylome-based cell-of-origin modeling (Methyl-COOM) identifies aberrant expression of immune regulatory molecules in CLL. Genome Medicine, 12(1):29.

Morlino, Silvia; Micale, Lucia; Ritelli, Marco; Rohrbach, Marianne; Zoppi, Nicoletta; Vandersteen, Anthony; Mackay, Sara; Agolini, Emanuele; Cocciadiferro, Dario; Sasaki, Erina; Madeo, Annalisa; Ferraris, Alessandro; Reardon, Willie; Di Rocco, Maja; Novelli, Antonio; Grammatico, Paola; Malfait, Fransiska; Mazza, Tommaso; Hakim, Alan; Giunta, Cecilia; Colombi, Marina; Castori, Marco (2020). COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap. Clinical Genetics, 97(3):396-406.

Nowak, Albina; Huynh-Do, Uyen; Krayenbuehl, Pierre-Alexandre; Beuschlein, Felix; Schiffmann, Raphael; Barbey, Frédéric (2020). Fabry disease genotype, phenotype and migalastat amenability: insights from a national cohort. Journal of Inherited Metabolic Disease, 43(2):326-333.

Jagannath, Vinita; Grünblatt, Edna; Theodoridou, Anastasia; Oneda, Beatrice; Roth, Alexander; Gerstenberg, Miriam; Franscini, Maurizia; Traber‐Walker, Nina; Correll, Christoph U; Heekeren, Karsten; Rössler, Wulf; Rauch, Anita; Walitza, Susanne (2020). Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain‐related functional pathways. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 183(2):140-151.

Häberle, Johannes; Rüfenacht, Véronique (2020). Response to Baertling et al. Genetics in Medicine, 22(3):656.

Evers, Roeland A F; van Wegberg, Annemiek M J; Anjema, Karen; Lubout, Charlotte M A; van Dam, Esther; van Vliet, Danique; Blau, Nenad; van Spronsen, Francjan J (2020). The first European guidelines on phenylketonuria: Usefulness and implications for BH 4 responsiveness testing. Journal of Inherited Metabolic Disease, 43(2):244-250.

Deng, Ting; Stempor, Przemyslaw; Appert, Alex; Daube, Michael; Ahringer, Julie; Hajnal, Alex; Lattmann, Evelyn (2020). The Caenorhabditis elegans homolog of the Evi1 proto-oncogene, egl-43, coordinates G1 cell cycle arrest with pro-invasive gene expression during anchor cell invasion. PLoS Genetics, 16(3):e1008470.

Andrs, Martin; Hasanova, Zdenka; Oravetzova, Anna; Dobrovolna, Jana; Janscak, Pavel (2020). RECQ5: A Mysterious Helicase at the Interface of DNA Replication and Transcription. Genes, 11(2):232.

Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Yuqing, Shi; Ganetzky, Rebecca D; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schöls, Ludger; Distelmaier, Felix; Stettner, Georg M; Büchner, Boriana; Falk, Marni J; Mayr, Johannes A; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B; Prokisch, Holger; Wortmann, Saskia B; Murayama, Kei; Fang, Fang; Klopstock, Thomas (2020). Delineating MT-ATP6-associated disease. From isolated neuropathy to early onset neurodegeneration. Neurology Genetics, 6:e393.

Oliveira, João P; Nowak, Albina; Barbey, Frédéric; Torres, Márcia; Nunes, José P; Teixeira-E-Costa, Fernando; Carvalho, Fernanda; Sampaio, Susana; Tavares, Isabel; Pereira, Odete; Soares, Ana L; Carmona, Cátia; Cardoso, Maria-Teresa; Jurca-Simina, Iulia E; Spada, Marco; Ferreira, Susana; Germain, Dominique P (2020). Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males. European Journal of Medical Genetics, 63(2):103703.

Klee, Katrin; Storti, Federica; Maggi, Jordi; Todorova, Vyara; Karademir, Duygu; Berger, Wolfgang; Samardzija, Marijana; Grimm, Christian (2020). The expression of Decidual Protein induced by Progesterone (DEPP) is controlled by three distal consensus Hypoxia Responsive Element (HRE) in Hypoxic Retinal Epithelial cells. Genes, 11(1):E111.

Atac, David; Koller, Samuel; Hanson, James V M; Feil, Silke; Tiwari, Amit; Bahr, Angela; Baehr, Luzy; Magyar, István; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang (2020). Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Human Molecular Genetics, 29(1):132-148.

Bachmann-Gagescu, Ruxandra; Dempsey, Jennifer C; Bulgheroni, Sara; Chen, Maida L; D'Arrigo, Stefano; Glass, Ian A; Heller, Theo; Héon, Elise; Hildebrandt, Friedhelm; Joshi, Nirmal; Knutzen, Dana; Kroes, Hester Y; Mack, Stephen H; Nuovo, Sara; Parisi, Melissa A; Snow, Joseph; Summers, Angela C; Symons, Jordan M; Zein, Wadih M; Boltshauser, Eugen; Sayer, John A; Gunay-Aygun, Meral; Valente, Enza Maria; Doherty, Dan (2020). Healthcare recommendations for Joubert syndrome. American Journal of Medical Genetics. Part A, 182(1):229-249.

Doykov, Ivan D; Heywood, Wendy E; Nikolaenko, Valeria; Śpiewak, Justyna; Hällqvist, Jenny; Clayton, Peter Theodore; Mills, Philippa; Warnock, David G; Nowak, Albina; Mills, Kevin (2020). Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease. Journal of Medical Genetics, 57(1):38-47.

Ayoub, Sandy; Ghali, Neeti; Angwin, Chloe; Baker, Duncan; Baffini, Stella; Brady, Angela F; Giovannucci Uzielli, Maria Luisa; Giunta, Cecilia; Johnson, Diana S; Kosho, Tomoki; Neas, Katherine; Pope, F Michael; Rutsch, Frank; Scarselli, Gloria; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S (2020). Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome. American Journal of Medical Genetics. Part A, 182(5):994-1007.

Opladen, Thomas; López-Laso, Eduardo; Cortès-Saladelafont, Elisenda; Pearson, Toni S; et al; Thöny, Beat (2020). Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet Journal of Rare Diseases, 15:126.

Wiedemann, Arnaud; Chery, Céline; Coelho, David; Flayac, Justine; Gueguen, Naïg; Desquiret-Dumas, Valérie; Feillet, François; Lavigne, Christian; Neau, Jean-Philippe; Fowler, Brian; Baumgartner, Matthias R; Reynier, Pascal; Guéant, Jean-Louis; Oussalah, Abderrahim (2020). Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis. Journal of Human Genetics, 65(2):91-98.

Hillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; et al; Rohrbach, Marianne; Thöny, Beat; Blau, Nenad (2020). The Genetic Landscape and Epidemiology of Phenylketonuria. American Journal of Human Genetics, 107(2):234-250.

Najafi, Arash; Caspar, Sylvan M; Meienberg, Janine; Rohrbach, Marianne; Steinmann, Beat; Matyas, Gabor (2020). Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies. Clinical Genetics, 97(2):235-245.

2019

Noreen, Faiza; Küng, Taya; Tornillo, Luigi; Parker, Hannah; Silva, Miguel; Weis, Stefan; Marra, Giancarlo; Rad, Roland; Truninger, Kaspar; Schär, Primo (2019). DNA methylation instability by BRAF-mediated TET silencing and lifestyle-exposure divides colon cancer pathways. Clinical Epigenetics, 11:196.

Diociaiuti, Andrea; Steinke, Holger; Nyström, Alexander; Schwieger-Briel, Agnes; Meiss, Frank; Pfannenberg, Christina; Bruckner-Tuderman, Leena; Ruf, Juri; De Vito, Rita; El Hachem, May; Kiritsi, Dimitra (2019). EGFR inhibition for metastasized cutaneous squamous cell carcinoma in dystrophic epidermolysis bullosa. Orphanet Journal of Rare Diseases, 14:278.

Begemann, Anaïs; Acuña, Mario A; Zweier, Markus; Vincent, Marie; Steindl, Katharina; Bachmann-Gagescu, Ruxandra; Hackenberg, Annette; Abela, Lucia; Plecko, Barbara; Kroell-Seger, Judith; Baumer, Alessandra; Yamakawa, Kazuhiro; Inoue, Yushi; Asadollahi, Reza; Sticht, Heinrich; Zeilhofer, Hanns Ulrich; Rauch, Anita (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25:6.

Füeg, F; Santos, S; Haslinger, C; Stoiber, B; Schäffer, L; Grünblatt, E; Zimmermann, R; Simões-Wüst, Ana Paula (2019). Influence of oxytocin receptor single nucleotide sequence variants on contractility of human myometrium: an in vitro functional study. BMC Medical Genetics, 20(1):178.

Rudnik-Schöneborn, Sabine; Huemer, Martina; Weis, Joachim; Sauer, Elizabeta; Meng, Gerhard (2019). Early onset facioscapulohumeral muscular dystrophy - Long-term follow-up of a patient with total facial diplegia. Neuromuscular Disorders : NMD, 29(12):973-976.

Zeltner, Nina A; Welsink-Karssies, Mendy M; Landolt, Markus A; Bosshard-Bullinger, Dominique; Keller, Fabia; Bosch, Annet M; Groenendijk, Marike; Grünert, Sarah C; Karall, Daniela; Rettenbacher, Beatrix; Scholl-Bürgi, Sabine; Baumgartner, Matthias R; Huemer, Martina (2019). Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents. Orphanet Journal of Rare Diseases, 14(1):248.

Srinivasan, Raghuraman C; Zabulica, Mihaela; Hammarstedt, Christina; Wu, Tingting; Gramignoli, Roberto; Kannisto, Kristina; Ellis, Ewa; Karadagi, Ahmad; Fingerhut, Ralph; Allegri, Gabriella; Rüfenacht, Véronique; Thöny, Beat; Häberle, Johannes; Nuoffer, Jean‐Marc; Strom, Stephen C (2019). A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency. Journal of Inherited Metabolic Disease, 42(6):1054-1063.

Srinivasan, Raghuraman C; Zabulica, Mihaela; Hammarstedt, Christina; Wu, Tingting; Gramignoli, Roberto; Kannisto, Kristina; Ellis, Ewa; Karadagi, Ahmad; Fingerhut, Ralph; Allegri, Gabriella; Rüfenacht, Véronique; Thöny, Beat; Häberle, Johannes; Nuoffer, Jean‐Marc; Strom, Stephen C (2019). A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency. Journal of Inherited Metabolic Disease, 42(6):1054-1063.

Allegri, Gabriella; Deplazes, Sereina; Rimann, Nicole; Causton, Benjamin; Scherer, Tanja; Leff, Jonathan W; Diez‐Fernandez, Carmen; Klimovskaia, Anna; Fingerhut, Ralph; Krijt, Jakub; Kožich, Viktor; Nuoffer, Jean‐Marc; Grisch‐Chan, Hiu M; Thöny, Beat; Häberle, Johannes (2019). Comprehensive characterization of ureagenesis in the spf ash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of ammonia detoxification. Journal of Inherited Metabolic Disease, 42(6):1064-1076.

Saunders, Gary; Baudis, Michael; Becker, Regina; Beltran, Sergi; Béroud, Christophe; Birney, Ewan; Brooksbank, Cath; Brunak, Søren; Van den Bulcke, Marc; Drysdale, Rachel; Capella-Gutierrez, Salvador; Flicek, Paul; Florindi, Francesco; Goodhand, Peter; Gut, Ivo; Heringa, Jaap; Holub, Petr; Hooyberghs, Jef; Juty, Nick; Keane, Thomas M; Korbel, Jan O; Lappalainen, Ilkka; Leskosek, Brane; Matthijs, Gert; Mayrhofer, Michaela Th; Metspalu, Andres; Navarro, Arcadi; Newhouse, Steven; Nyrönen, Tommi; Page, Angela; et al (2019). Leveraging European infrastructures to access 1 million human genomes by 2022. Nature Reviews. Genetics, 20(11):693-701.

Bast, Nico; Banaschewski, Tobias; Dziobek, Isabel; Brandeis, Daniel; Poustka, Luise; Freitag, Christine M (2019). Pupil Dilation Progression Modulates Aberrant Social Cognition in Autism Spectrum Disorder. Autism Research, 12(11):1680-1692.

Izuno, Ayako; Wicker, Thomas; Hatakeyama, Masaomi; Copetti, Dario; Shimizu, Kentaro K (2019). Updated Genome Assembly and Annotation for Metrosideros polymorpha, an Emerging Model Tree Species of Ecological Divergence. G3 : Genes, Genomes, Genetics, 9(11):3513-3520.

Khoja, Suhail; Nitzahn, Matthew; Truong, Brian; Lambert, Jenna; Willis, Brandon; Allegri, Gabriella; Rüfenacht, Véronique; Häberle, Johannes; Lipshutz, Gerald S (2019). A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia. Journal of Inherited Metabolic Disease, 42(6):1044-1053.

Diez-Fernandez, Carmen; Hertig, Damian; Loup, Marc; Diserens, Gaelle; Henry, Hugues; Vermathen, Peter; Nuoffer, Jean-Marc; Häberle, Johannes; Braissant, Olivier (2019). Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures. Journal of Inherited Metabolic Disease, 42(6):1077-1087.

Baruteau, Julien; Diez-Fernandez, Carmen; Lerner, Shaul; Ranucci, Giusy; Gissen, Paul; Dionisi-Vici, Carlo; Nagamani, Sandesh; Erez, Ayelet; Häberle, Johannes (2019). Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects. Journal of Inherited Metabolic Disease, 42(6):1147-1161.

Dal Molin, Michael; Selchow, Petra; Schäfle, Daniel; Tschumi, Andreas; Ryckmans, Thomas; Laage-Witt, Stephan; Sander, Peter (2019). Identification of novel scaffolds targeting Mycobacterium tuberculosis. Journal of Molecular Medicine, 97(11):1601-1613.

Vasileiou, Georgia; Hoyer, Juliane; Thiel, Christian T; Schaefer, Jan; Zapke, Maren; Krumbiegel, Mandy; Kraus, Cornelia; Zweier, Markus; Uebe, Steffen; Ekici, Arif B; Schneider, Michael; Wiesener, Michael; Rauch, Anita; Faschingbauer, Florian; Reis, André; Zweier, Christiane; Popp, Bernt (2019). Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenatal Diagnosis, 39(12):1136-1147.

Häberle, Johannes; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Karall, Daniela; Lindner, Martin; Mandel, Hanna; Martinelli, Diego; Pintos-Morell, Guillem; Santer, René; Skouma, Anastasia; Servais, Aude; Tal, Galit; Rubio, Vicente; Huemer, Martina; Dionisi-Vici, Carlo (2019). Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. Journal of Inherited Metabolic Disease, 42(6):1192-1230.

Nischalke, Hans Dieter; Lutz, Philipp; Bartok, Eva; Krämer, Benjamin; Langhans, Bettina; Frizler, Regina; Berg, Thomas; Hampe, Jochen; Buch, Stephan; Datz, Christian; Stickel, Felix; Hartmann, Gunther; Strassburg, Christian P; Nattermann, Jacob; Spengler, Ulrich (2019). The PNPLA3 I148M variant promotes lipid-induced hepatocyte secretion of CXC chemokines establishing a tumorigenic milieu. Journal of Molecular Medicine, 97(11):1589-1600.

Rogler, Gerhard; Hausmann, Martin (2019). The long and winding road: from genetic risk factors to the understanding of disease-pathogenesis in Crohn's disease. Genes and immunity, 20(8):607-608.

Matschiner, Michael (2019). Selective Sampling of Species and Fossils Influences Age Estimates Under the Fossilized Birth–Death Model. Frontiers in Genetics, 10:1064.

Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; et al; Undiagnosed Diseases Network (UDN) (2019). De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. American Journal of Human Genetics, 105(4):854-868.

Zai, Gwyneth; Barta, Csaba; Cath, Danielle; Eapen, Valsamma; Geller, Daniel; Grünblatt, Edna (2019). New insights and perspectives on the genetics of obsessive-compulsive disorder. Psychiatric Genetics, 29(5):142-151.

Rocatello, G; El Faquir, N; De Backer, Ole; Swaans, Martin J; Latib, Azeem; Vicentini, Luca; Segers, P; De Beule, Matthieu; de Jaegere, P; Mortier, Peter (2019). The impact of size and position of a mechanical expandable transcatheter aortic valve: novel insights through computational modelling and simulation. Journal of Cardiovascular Translational Research, 12(5):435-446.

Sato, Yasuhiro; Tezuka, Ayumi; Kashima, Makoto; Deguchi, Ayumi; Shimizu-Inatsugi, Rie; Yamazaki, Misako; Shimizu, Kentaro K; Nagano, Atsushi J (2019). Transcriptional Variation in Glucosinolate Biosynthetic Genes and Inducible Responses to Aphid Herbivory on Field-Grown Arabidopsis thaliana. Frontiers in Genetics:10:787.

Anderegg, Linda; Im Hof Gut, Michelle; Hetzel, Udo; Howerth, Elizabeth W; Leuthard, Fabienne; Kyöstilä, Kaisa; Lohi, Hannes; Pettitt, Louise; Mellersh, Cathryn; Minor, Katie M; Mickelson, James R; Batcher, Kevin; Bannasch, Danika; Jagannathan, Vidhya; Leeb, Tosso (2019). NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genetics, 15(9):e1008378.

Forny, Patrick; Hochuli, Michel; Rahman, Yusof; Deheragoda, Maesha; Weber, Achim; Baruteau, Julien; Grunewald, Stephanie (2019). Liver neoplasms in methylmalonic aciduria - an emerging complication. Journal of Inherited Metabolic Disease, 42(5):793-802.

Grünblatt, Edna; Nemoda, Zsofia; Werling, Anna Maria; Roth, Alexander; Angyal, Nora; Tarnok, Zsanett; Thomsen, Hauke; Peters, Triinu; Hinney, Anke; Hebebrand, Johannes; Lesch, Klaus-Peter; Romanos, Marcel; Walitza, Susanne (2019). The involvement of the canonical Wnt-signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta-analysis. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 180(6):365-376.

Gupta, Sapna; Gallego-Villar, Lorena; Wang, Liqun; Lee, Hyung-Ok; Nasrallah, Gheyath; Al-Dewik, Nader; Häberle, Johannes; Thöny, Beat; Blom, Henk J; Ben-Omran, Tawfeg; Kruger, Warren D (2019). Analysis of the Qatari R336C cystathionine β-synthase protein in mice. Journal of Inherited Metabolic Disease, 42(5):831-838.

Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Undiagnosed Diseases Network (UDN); et al; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita (2019). Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genetics in Medicine, 21(9):2043-2058.

Al-Dewik, Nader; Ali, Alaa; Mahmoud, Yassmin; Shahbeck, Noora; Ali, Rehab; Mahmoud, Laila; Al-Mureikhi, Mariam; Al-Mesaifri, Fatma; Musa, Sara; El-Akouri, Karen; Almulla, Mariam; Al Saadi, Reem; Nasrallah, Gheyath K; Samara, Muthanna; Abdoh, Ghassan; Rifai, Hilal Al; Häberle, Johannes; Thöny, Beat; Kruger, Warren; Blom, Henk J; Ben-Omran, Tawfeg (2019). Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population. Journal of Inherited Metabolic Disease, 42(5):818-830.

Matsumoto, Shirou; Häberle, Johannes; Kido, Jun; Mitsubuchi, Hiroshi; Endo, Fumio; Nakamura, Kimitoshi (2019). Urea cycle disorders-update. Journal of Human Genetics, 64(9):833-847.

Kufner, Verena; Plate, Andreas; Schmutz, Stefan; Braun, Dominique L; Günthard, Huldrych F; Capaul, Riccarda; Zbinden, Andrea; Mueller, Nicolas J; Trkola, Alexandra; Huber, Michael (2019). Two Years of Viral Metagenomics in a Tertiary Diagnostics Unit: Evaluation of the First 105 Cases. Genes, 10(9):pii: E661.

Junier, Thomas; Huber, Michael; Schmutz, Stefan; Kufner, Verena; Zagordi, Osvaldo; Neuenschwander, Stefan; Ramette, Alban; Kubacki, Jakub; Bachofen, Claudia; Qi, Weihong; Laubscher, Florian; Cordey, Samuel; Kaiser, Laurent; Beuret, Christian; Barbié, Valérie; Fellay, Jacques; Lebrand, Aitana (2019). Viral metagenomics in the clinical realm: lessons learned from a Swiss-wide ring trial. Genes, 10(9):E655.

Silvera-Ruiz, Silene M; Arranz, José A; Häberle, Johannes; Angaroni, Celia J; Bezard, Miriam; Guelbert, Norberto; Becerra, Adriana; Peralta, Fernanda; de Kremer, Raquel Dodelson; Laróvere, Laura E (2019). Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings. Orphanet Journal of Rare Diseases, 14(1):203.

Eozenou, Caroline; Bashamboo, Anu; Bignon-Topalovic, Joelle; Merel, Tiphanie; Zwermann, Oliver; Lourenco, Diana; Lottmann, Henri; Lichtenauer, Urs; Rojo, Sandra; Beuschlein, Felix; McElreavey, Ken; Brauner, Raja (2019). The TALE homeodomain of PBX1 is involved in human primary testis-determination. Human Mutation, 40(8):1071-1076.

Orjuela, Stephany; Huang, Ruizhu; Hembach, Katharina M; Robinson, Mark D; Soneson, Charlotte (2019). ARMOR: An Automated Reproducible MOdular Workflow for Preprocessing and Differential Analysis of RNA-seq Data. G3 : Genes, Genomes, Genetics, 9(7):2089-2096.

Lim, Pei Jin; Lindert, Uschi; Opitz, Lennart; Hausser, Ingrid; Rohrbach, Marianne; Giunta, Cecilia (2019). Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome. Genes, 10(7):517.

Ferreira, Filipa M; Palle, Pushpalatha; vom Berg, Johannes; Prajwal, Prajwal; Laman, Jon D; Buch, Thorsten (2019). Bone marrow chimeras-a vital tool in basic and translational research. Journal of Molecular Medicine, 97(7):889-896.

Hauer, Nadine N; Popp, Bernt; Taher, Leila; Vogl, Carina; et al; Rauch, Anita (2019). Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. European Journal of Human Genetics, 27(7):1061-1071.

Huemer, Martina; Baumgartner, Matthias R (2019). The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways. Journal of Inherited Metabolic Disease, 42(4):686-705.

Bosio, Mattia; Drechsel, Oliver; Rahman, Rubayte; Muyas, Francesc; Rabionet, Raquel; Bezdan, Daniela; Domenech Salgado, Laura; Hor, Hyun; Schott, Jean-Jacques; Munell, Francina; Colobran, Roger; Macaya, Alfons; Estivill, Xavier; Ossowski, Stephan (2019). eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics. Human Mutation, 40(7):865-878.

Brugger, Silvio D; Kraemer, Julia G; Qi, Weihong; Bomar, Lindsey; Oppliger, Anne; Hilty, Markus (2019). Age-Dependent Dissimilarity of the Nasopharyngeal and Middle Ear Microbiota in Children With Acute Otitis Media. Frontiers in Genetics, 10:555.

Keller, R; Chrastina, P; et al; Blom, H J; Baumgartner, M R; Huemer, Martina; Fingerhut, Ralph (2019). Newborn screening for homocystinurias: recent recommendations versus current practice. Journal of Inherited Metabolic Disease, 42(1):128-139.

Festa, Beatrice Paola; Berquez, Marine; Gassama, Alkaly; Amrein, Irmgard; Ismail, Hesham M; Samardzija, Marijana; Staiano, Leopoldo; Luciani, Alessandro; Grimm, Christian; Nussbaum, Robert L; De Matteis, Maria Antonietta; Dorchies, Olivier M; Scapozza, Leonardo; Wolfer, David Paul; Devuyst, Olivier (2019). OCRL Deficiency Impairs Endolysosomal Function in a Humanized Mouse Model for Lowe Syndrome and Dent Disease. Human Molecular Genetics, 28(12):1931-1946.

Mueller, Sandro Manuel; Mihaylova, Violeta; Frese, Sebastian; Petersen, Jens A; Ligon-Auer, Maria; Aguayo, David; Flück, Martin; Jung, Hans H; Toigo, Marco (2019). Satellite cell content in Huntington's disease patients in response to endurance training. Orphanet Journal of Rare Diseases, 14:135.

O'Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; et al; Joset, Pascal; Rauch, Anita; Steindl, Katharina (2019). Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal of Human Genetics, 104(6):1210-1222.

Buch, Thorsten; Moos, Katharina; Ferreira, Filipa M; Fröhlich, Holger; Gebhard, Catherine; Tresch, Achim (2019). Benefits of a factorial design focusing on inclusion of female and male animals in one experiment. Journal of Molecular Medicine, 97(6):871-877.

Ewans, Lisa Jean; Colley, Alison; Gaston-Massuet, Carles; Gualtieri, Angelica; Cowley, Mark J; McCabe, Mark James; Anand, Deepti; Lachke, Salil A; Scietti, Luigi; Forneris, Federico; Zhu, Ying; Ying, Kevin; Walsh, Corrina; Kirk, Edwin P; Miller, David; Giunta, Cecilia; Sillence, David; Dinger, Marcel; Buckley, Michael; Roscioli, Tony (2019). Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. Journal of Medical Genetics, 56(9):629-638.

Tiefenbacher, Stefan; Albisetti, Manuela; Baker, Peter; Kappert, Guenther; Kitchen, Steve; Kremer Hovinga, Johanna A; Pouplard, Claire; Scholz, Ute; Ternisien, Catherine; Borgvall, Carin; Vicente, Tiago; Belyanskaya, Larisa; Walter, Olaf; Oldenburg, Johannes (2019). Estimation of Nuwiq ® (simoctocog alfa) activity using one‐stage and chromogenic assays—Results from an international comparative field study. Haemophilia, 25(4):708-717.

Dittrich, Sven; Graf, Erika; Trollmann, Regina; Neudorf, Ulrich; Schara, Ulrike; Heilmann, Antje; von der Hagen, Maja; Stiller, Brigitte; Kirschner, Janbernd; Pozza, Robert Dalla; Müller-Felber, Wolfgang; Weiss, Katja; von Au, Katja; Khalil, Markus; Motz, Reinald; Korenke, Christoph; Lange, Martina; Wilichowski, Ekkehard; Pattathu, Joseph; Ebinger, Friedrich; Wiechmann, Nicola; Schröder, Rolf (2019). Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial. Orphanet Journal of Rare Diseases, 14(1):105.

Reunert, Janine; Rust, Stephan; Grüneberg, Marianne; Seelhöfer, Anja; Kurz, Daniel; Ocker, Volker; Weber, Dorothea; Fingerhut, Ralph; Marquardt, Thorsten (2019). Transient N ‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I. American Journal of Medical Genetics. Part A, 179(7):1371-1375.

Schrauwen, Isabelle; Valgaeren, Hanne; Tomas-Roca, Laura; Sommen, Manou; Altunoglu, Umut; Wesdorp, Mieke; Beyens, Matthias; Fransen, Erik; Nasir, Abdul; Vandeweyer, Geert; Schepers, Anne; Rahmoun, Malika; van Beusekom, Ellen; Huentelman, Matt J; Offeciers, Erwin; Dhooghe, Ingeborg; Huber, Alex; Van de Heyning, Paul; Zanetti, Diego; De Leenheer, Els M R; Gilissen, Christian; Hoischen, Alexander; Cremers, Cor W; Verbist, Berit; de Brouwer, Arjan P M; Padberg, George W; Pennings, Ronald; Kayserili, Hülya; Kremer, Hannie; Van Camp, Guy; et al (2019). Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis. Genetics in Medicine, 21(5):1199-1208.

Sun, Michael Shoujie; Weber, Joe; Blattner, Ariane C; Chaurasia, Soumya; Lehner, Christian F (2019). MNM and SNM maintain but do not establish achiasmate homolog conjunction during Drosophila male meiosis. PLoS Genetics, 15(5):e1008162.

Zweier, Markus; Begemann, Anaïs; McWalter, Kirsty; Cho, Megan T; Abela, Lucia; et al; Deciphering Developmental Disorders (DDD) Study; Steindl, Katharina; Rauch, Anita (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European Journal of Human Genetics, 27(5):747-759.

Rubio-Gozalbo, M E; Haskovic, M; et al; Häberle, J; Hochuli, M; Tran, C; Gautschi, M (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet Journal of Rare Diseases, 14(1):86.

Crowther, Lisa M; Mathis, Déborah; Poms, Martin; Plecko, Barbara (2019). New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency. Journal of Inherited Metabolic Disease, 42(4):620-628.

Hiatt, Susan M; Thompson, Michelle L; Prokop, Jeremy W; Lawlor, James M J; Gray, David E; Bebin, E Martina; Rinne, Tuula; Kempers, Marlies; Pfundt, Rolph; van Bon, Bregje W; Mignot, Cyril; Nava, Caroline; Depienne, Christel; Kalsner, Louisa; Rauch, Anita; Joset, Pascal; Bachmann-Gagescu, Ruxandra; Wentzensen, Ingrid M; McWalter, Kirsty; Cooper, Gregory M (2019). Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. American Journal of Human Genetics, 104(4):701-708.

Hartl, Dominik; Krebs, Arnaud R; Grand, Ralph S; Baubec, Tuncay; Isbel, Luke; Wirbelauer, Christiane; Burger, Lukas; Schubeler, Dirk (2019). CG dinucleotides enhance promoter activity independent of DNA methylation. Genome Research, 29(4):554-563.

Tran Mau-Them, F; Guibaud, L; Duplomb, L; Keren, B; Lindstrom, K; Marey, I; Mochel, F; et al; Zweier, M; Schmitt-Mechelke, T (2019). De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genetics in Medicine, 21(4):1008-1014.

Jung-KC, Kunwar; Himmelreich, Nastassja; Prestegård, Karina S; Shi, Tie‐Jun Sten; Scherer, Tanja; Ying, Ming; Jorge‐Finnigan, Ana; Thöny, Beat; Blau, Nenad; Martinez, Aurora (2019). Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12. Human Mutation, 40(4):483-494.

Vuillaume, Marie-Laure; Moizard, Marie-Pierre; Baumer, Alessandra; Cottereau, Edouard; Brioude, Frédéric; Rauch, Anita; Toutain, Annick (2019). CUGC for Simpson-Golabi-Behmel syndrome (SGBS). European Journal of Human Genetics, 27(4):663-668.

Garbade, Sven F; Shen, Nan; Himmelreich, Nastassja; Haas, Dorothea; Trefz, Friedrich K; Hoffmann, Georg F; Burgard, Peter; Blau, Nenad (2019). Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. Genetics in Medicine, 21(3):580-590.

Richter, Susan; Gieldon, Laura; Pang, Ying; Peitzsch, Mirko; Huynh, Thanh; Leton, Rocio; Viana, Bruna; Ercolino, Tonino; Mangelis, Anastasios; Rapizzi, Elena; Menschikowski, Mario; Aust, Daniela; Kroiss, Matthias; Beuschlein, Felix; Gudziol, Volker; Timmers, Henri Jlm; Lenders, Jacques; Mannelli, Massimo; Cascon, Alberto; Pacak, Karel; Robledo, Mercedes; Eisenhofer, Graeme; Klink, Barbara (2019). Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. Genetics in Medicine, 21(3):705-717.

Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; Iff, Tobias; Schmitt-Mechelke, Thomas; Otten, Karoline; Hackenberg, Annette; Addor, Marie-Claude; Klein, Andrea; Azzarello-Burri, Silvia; Sticht, Heinrich; Joset, Pascal; Plecko, Barbara; Rauch, Anita (2019). The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. European Journal of Human Genetics, 27(3):408-421.

Amar, Ali; Majmundar, Amar J; Ullah, Ihsan; Afzal, Ayesha; Braun, Daniela A; Shril, Shirlee; Daga, Ankana; Jobst-Schwan, Tilman; Ahmad, Mumtaz; Sayer, John A; Gee, Heon Yung; Halbritter, Jan; Knöpfel, Thomas; Hernando, Nati; Werner, Andreas; Wagner, Carsten; Khaliq, Shagufta; Hildebrandt, Friedhelm (2019). Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Human Genetics, 138(3):211-219.

Jackson, Christopher B; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human Molecular Genetics, 28(4):639-649.

Pilotto, A; Blau, N; Leks, E; Schulte, C; Deuschl, C; Zipser, C; Piel, D; Freisinger, Peter; Gramer, G; Kolker, S; Haas, D; Burgard, P; Nawroth, P; Hoffmann, G; Scheffler, K; Berg, D; Trefz, F (2019). Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria. Journal of Inherited Metabolic Disease, 42:398-406.

Kurtas, Nehir Edibe; Xumerle, Luciano; Leonardelli, Lorena; Delledonne, Massimo; Brusco, Alfredo; Chrzanowska, Krystyna; Schinzel, Albert; Larizza, Daniela; Guerneri, Silvana; Natacci, Federica; Bonaglia, Maria Clara; Reho, Paolo; Manolakos, Emmanouil; Mattina, Teresa; Soli, Fiorenza; Provenzano, Aldesia; Al-Rikabi, Ahmed H; Errichiello, Edoardo; Nazaryan-Petersen, Lusine; Giglio, Sabrina; Tommerup, Niels; Liehr, Thomas; Zuffardi, Orsetta (2019). Small supernumerary marker chromosomes: A legacy of trisomy rescue? Human Mutation, 40(2):193-200.

Ferreira, Carlos R; van Karnebeek, Clara D M; Vockley, Jerry; Blau, Nenad (2019). A proposed nosology of inborn errors of metabolism. Genetics in Medicine, 21(1):102-106.

Payne, Joshua L; Wagner, Andreas (2019). The causes of evolvability and their evolution. Nature Reviews. Genetics, 20(1):24-38.

Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi-Vici, Carlo; Dobbelaere, Dries; Garcia-Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Ah Mew, Nicholas; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter (2019). Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases. Journal of Inherited Metabolic Disease, 42(1):93-106.

Ehlert, Karoline; Levade, Thierry; Di Rocco, Maja; Lanino, Edoardo; Albert, Michael H; Führer, Monika; Jarisch, Andrea; Güngör, Tayfun; Ayuk, Francis; Vormoor, Josef (2019). Allogeneic hematopoietic cell transplantation in Farber disease. Journal of Inherited Metabolic Disease, 42(2):286-294.

Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; et al; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. American Journal of Human Genetics, 105(4):836-843.

Rahman, Shamima; Baumgartner, Matthias (2019). B Vitamins: Small molecules, big effects. Journal of Inherited Metabolic Disease, 42(4):579-580.

Rymen, Daisy; Ritelli, Marco; Zoppi, Nicoletta; Cinquina, Valeria; Giunta, Cecilia; Rohrbach, Marianne; Colombi, Marina (2019). Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant. Genes, 10(11):843.

Häberle, Johannes; Thöny, Beat (2019). Editorial. Journal of Inherited Metabolic Disease, 42(6):1041-1043.

Riedmayr, Lisa Maria; Böhm, Sybille; Biel, Martin; Becirovic, Elvir (2019). Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site. Human Molecular Genetics, 29(2):295-304.

Molema, Femke; Gleich, Florian; Burgard, Peter; et al; Baumgartner, M R (2019). Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry. Journal of Inherited Metabolic Disease, 42(6):1162-1175.

Ballout, Rami A; Al Alam, Chadi; Bonnen, Penelope E; Huemer, Martina; El-Hattab, Ayman W; Shbarou, Rolla (2019). FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. Frontiers in Genetics, 10:39.

Felley-Bosco, Emanuela (2019). Hedgehog signaling in mesothelioma: 2019 status. Frontiers in Genetics, 10:1121.

About, Frédégonde; Bibert, Stéphanie; Jouanguy, Emmanuelle; Nalpas, Bertrand; Lorenzo, Lazaro; Rattina, Vimel; Zarhrate, Mohammed; Hanein, Sylvain; Munteanu, Mona; Müllhaupt, Beat; Semela, David; Semmo, Nasser; Casanova, Jean-Laurent; Theodorou, Ioannis; Sultanik, Philippe; Poynard, Thierry; Pol, Stanislas; Bochud, Pierre-Yves; Cobat, Aurélie; Abel, Laurent; Swiss Hepatitis C Cohort Study Group; French ANRS HC EP 26 Genoscan Study Group (2019). Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing. Frontiers in Genetics, 10:1024.

Buerger, Corinna; Garbade, Sven F; Dietrich Alber, Fabienne; Waisbren, Susan E; McCarter, Robert; Kölker, Stefan; Burgard, Peter; Ah Mew, Nicholas; Batshaw, Mark L; Baumgartner, Matthias R; Berry, Susan A; Coughlin, Curtis; Cederbaum, Stephen; Diaz, George A; Feigenbaum, Annette; Gallagher, Renata C; Harding, Cary O; Hoffmann, Georg; Kerr, Douglas S; Lee, Brendan; Le Mons, Cynthia; Lichter‐Konecki, Uta; McCandless, Shawn E; Lawrence Merritt, J; Nagamani, Sandesh C S; Schulze, Andreas; Seashore, Margretta R; Stricker, Tamar; Summar, Marshall L; Tuchman, Mendel; et al (2019). Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain‐specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events. Journal of Inherited Metabolic Disease, 42(2):243-253.

Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A; Seifert, Burkhardt; Froese, D Sean; Baumgartner, Matthias R; Dionisi‐Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana; Blasco‐Alonso, Javier; Boy, Nikolas; Bueno, Maria; Burgos Peláez, Rosa; Cerone, Roberto; Chabrol, Brigitte; Chapman, Kimberly A; Couce, Maria Luz; Crushell, Ellen; Dalmau Serra, Jaime; Diogo, Luisa; Ficicioglu, Can; García Jimenez, Maria Concepcion; García Silva, Maria Teresa; et al (2019). Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry. Journal of Inherited Metabolic Disease, 42(2):333-352.

Froese, D Sean; Fowler, Brian; Baumgartner, Matthias R (2019). Vitamin B12, folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation. Journal of Inherited Metabolic Disease, 42(4):673-685.

2018

Stephen, Joshi; Maddirevula, Sateesh; Nampoothiri, Sheela; et al; Steindl, Katharina; Joset, Pascal; Ramantani, Georgia (2018). Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. American Journal of Human Genetics, 103(6):948-967.

Häberle, Johannes; Chakrapani, Anupam; Ah Mew, Nicholas; Longo, Nicola (2018). Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories. Orphanet Journal of Rare Diseases, 13(1):219.

van Vliet, Danique; van Wegberg, Annemiek M J; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Federico, Antonio; Feillet, François; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L; Hollak, Carla E M; Jørgensen, Jens V; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan Ö; Nardecchia, Francesca; Õunap, Katrin; Powell, Kimberly K; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljkovic, Maja; Trefz, Fritz K; Usurelu, Natalia; Wilson, Callum; van Karnebeek, Clara D; Hanley, William B; van Spronsen, Francjan J (2018). Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet Journal of Rare Diseases, 13(1):149.

Steiner, Urs C; Kölliker, Lea; Weber-Chrysochoou, Christina; Schmid-Grendelmeier, Peter; Probst, Elsbeth; Wuillemin, Walter A; Helbling, Arthur (2018). Food as a trigger for abdominal angioedema attacks in patients with hereditary angioedema. Orphanet Journal of Rare Diseases, 13(1):90.

Calsina, Bruna; Currás-Freixes, Maria; Buffet, Alexandre; et al; Beuschlein, Felix (2018). Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. Genetics in Medicine, 20(12):1652-1662.

Dyke, Stephanie O M; Linden, Mikael; Lappalainen, Ilkka; De Argila, Jordi Rambla; et al; Baudis, Michael (2018). Registered access: authorizing data access. European Journal of Human Genetics, 26(12):1721-1731.

Ismail, Hesham M; Krishnamoorthy, Navaneethakrishnan; Al-Dewik, Nader; Zayed, Hatem; Mohamed, Nura A; Di Giacomo, Valeria; Gupta, Sapna; Häberle, Johannes; Thöny, Beat; Blom, Henk J; Kruger, Waren D; Ben-Omran, Tawfeg; Nasrallah, Gheyath K (2018). In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies. Human Mutation, 40(2):230-240.

Romano, Maria-Teresa; Tafazzoli, Aylar; Mattern, Maximilian; Sivalingam, Sugirthan; Wolf, Sabrina; Rupp, Alexander; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Ellwanger, Jürgen; Gambon, Reto; Baumer, Alessandra; et al (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. American Journal of Human Genetics, 103(5):777-785.

Romano, Maria-Teresa; Tafazzoli, Aylar; Mattern, Maximilian; Sivalingam, Sugirthan; Wolf, Sabrina; Rupp, Alexander; Thiele, Holger; Altmüller, Janine; Nürnberg, Peter; Ellwanger, Jürgen; Gambon, Reto; Baumer, Alessandra; Kohlschmidt, Nicolai; Metze, Dieter; Holdenrieder, Stefan; Paus, Ralf; Lütjohann, Dieter; Frank, Jorge; Geyer, Matthias; Bertolini, Marta; Kokordelis, Pavlos; Betz, Regina C (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. American Journal of Human Genetics, 103(5):777-785.

Zastrow, Diane B; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A; Lager, Angela M; Liu, Jixia; Mangels, Rachel; Dwight, Selina S; Wright, Matt W; Dobrowolski, Steven F; Eilbeck, Karen; Enns, Gregory M; Feigenbaum, Annette; Lichter-Konecki, Uta; Lyon, Elaine; Pasquali, Marzia; Watson, Michael; Blau, Nenad; Steiner, Robert D; Craigen, William J; Mao, Rong (2018). Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Human Mutation, 39(11):1569-1580.

Bijarnia-Mahay, Sunita; Häberle, Johannes; Jalan, Anil B; Puri, Ratna Dua; Kohli, Sudha; Kudalkar, Ketki; Rüfenacht, Véronique; Gupta, Deepti; Maurya, Deepshikha; Verma, Jyotsna; Shigematsu, Yosuke; Yamaguchi, Seiji; Saxena, Renu; Verma, Ishwar C (2018). Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing. Orphanet Journal of Rare Diseases, 13:174.

Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; et al; Rauch, Anita (2018). Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genetics in Medicine, 20(9):965-975.

Lintas, V; Fioretta, E S; Motta, S E; Dijkman, P E; Pensalfini, M; Mazza, E; Caliskan, E; Rodriguez, H; Lipiski, M; Sauer, M; Cesarovic, N; Hoerstrup, S P; Emmert, M Y (2018). Development of a Novel Human Cell-Derived Tissue-Engineered Heart Valve for Transcatheter Aortic Valve Replacement: an In Vitro and In Vivo Feasibility Study. Journal of Cardiovascular Translational Research, 11(6):470-482.

Hadj-Rabia, Smail; Brideau, Gaelle; Olinger, Eric; Vargas-Poussou, Rosa; Bodemer, Christine; Devuyst, Olivier; et al (2018). Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. Genetics in Medicine, 20(2):190-201.

Gregor, Anne; Sadleir, Lynette G; Asadollahi, Reza; Azzarello-Burri, Silvia; et al (2018). De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. American Journal of Human Genetics, 103(2):305-316.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Gemperle, Corinne; Fingerhut, Ralph; Häberle, Johannes (2018). Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations. Human Mutation, 39(8):1029-1050.

Repp, Birgit M; Mastantuono, Elisa; Alston, Charlotte L; et al; Häberle, Johannes (2018). Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet Journal of Rare Diseases, 13:120.

Bratus-Neuenschwander, Anna; Castro-Giner, Francesc; Frank-Bertoncelj, Mojca; Aluri, Sirisha; Fucentese, Sandro F; Schlapbach, Ralph; Sprott, Haiko (2018). Pain-Associated Transcriptome Changes in Synovium of Knee Osteoarthritis Patients. Genes, 9(7):E338.

Waisbren, Susan E; Cuthbertson, David; Burgard, Peter; Holbert, Amy; McCarter, Robert; Cederbaum, Stephen (2018). Biochemical markers and neuropsychological functioning in distal urea cycle disorders. Journal of Inherited Metabolic Disease, 41(4):657-667.

Kahr, M K; Franke, D; Brun, R; Wisser, J; Zimmermann, R; Haslinger, C (2018). Blood group O: A novel risk factor for increased postpartum blood loss? Haemophilia, 24(4):e207-e212.

Stellacci, Emilia; Steindl, Katharina; Joset, Pascal; Mercurio, Laura; Anselmi, Massimiliano; Cecchetti, Serena; Gogoll, Laura; Zweier, Markus; Hackenberg, Annette; Bocchinfuso, Gianfranco; Stella, Lorenzo; Tartaglia, Marco; Rauch, Anita (2018). Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome. Human Mutation, 39(7):959-964.

Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; et al; Häberle, Johannes (2018). Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Journal of Inherited Metabolic Disease, 41(4):743-744.

Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M; Wijburg, Frits A; Freisinger, Peter; et al; Baumgartner, Matthias R (2018). Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias. Journal of Inherited Metabolic Disease, 41(4):741-742.

Scherer, Tanja; Allegri, Gabriella; Sarkissian, Christineh N; Ying, Ming; Grisch-Chan, Hiu Man; Rassi, Anahita; Winn, Shelley R; Harding, Cary O; Martinez, Aurora; Thöny, Beat (2018). Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice. Journal of Inherited Metabolic Disease, 41(4):709-718.

Ros, Oriol; Barrecheguren, Pablo José; Cotrufo, Tiziana; Schaettin, Martina; Roselló-Busquets, Cristina; Vílchez-Acosta, Alba; Hernaiz-Llorens, Marc; Martínez-Marmol, Ramón; Ulloa, Fausto; Stoeckli, Esther T; Araújo, Sofia J; Soriano, Eduardo (2018). A conserved role for Syntaxin-1 in pre- and post-commissural midline axonal guidance in fly, chick, and mouse. PLoS Genetics, 14(6):e1007432.

Hauer, Nadine N; Popp, Bernt; Schoeller, Eva; et al; Rauch, Anita (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6):630-638.

Motta, Sarah E; Fioretta, Emanuela S; Dijkman, Petra E; Lintas, Valentina; Behr, Luc; Hoerstrup, Simon P; Emmert, Maximilian Y (2018). Development of an Off-the-Shelf Tissue-Engineered Sinus Valve for Transcatheter Pulmonary Valve Replacement: a Proof-of-Concept Study. Journal of Cardiovascular Translational Research, 11(3):182-191.

Ansar, Muhammad; Chung, Hyunglok; Waryah, Yar M; Makrythanasis, Periklis; Falconnet, Emilie; Rao, Ali Raza; Guipponi, Michel; Narsani, Ashok K; Fingerhut, Ralph; Santoni, Federico A; Ranza, Emmanuelle; Waryah, Ali M; Bellen, Hugo J; Antonarakis, Stylianos E (2018). Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. Human Molecular Genetics, 27(15):2703-2711.

Li, Guo-Liang; Saguner, Ardan M; Fontaine, Guy H (2018). Naxos disease: from the origin to today. Orphanet Journal of Rare Diseases, 13(1):74.

Lee, Jessica J Y; Gottlieb, Michael M; Lever, Jake; Jones, Steven J M; Blau, Nenad; van Karnebeek, Clara D M; Wasserman, Wyeth W (2018). Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis. Journal of Inherited Metabolic Disease, 41(3):555-562.

Wevers, Ron A; Blau, Nenad (2018). Think big — think omics. Journal of Inherited Metabolic Disease, 41(3):281-283.

Chaurasia, Soumya; Lehner, Christian F (2018). Dynamics and control of sister kinetochore behavior during the meiotic divisions in Drosophila spermatocytes. PLoS Genetics, 14(5):e1007372.

Crowther, L M; Poms, M; Plecko, Barbara (2018). Multiomics tools for the diagnosis and treatment of rare neurological disease. Journal of Inherited Metabolic Disease, 41(3):425-434.

Scheckel, Claudia; Aguzzi, Adriano (2018). Prions, prionoids and protein misfolding disorders. Nature Reviews. Genetics, 19(7):405-418.

Sprouffske, Kathleen; Aguilar-Rodríguez, José; Sniegowski, Paul; Wagner, Andreas (2018). High mutation rates limit evolutionary adaptation in Escherichia coli. PLoS Genetics, 14(4):e1007324.

van Steenwyk, Gretchen; Roszkowski, Martin; Manuella, Francesca; Franklin, Tamara B; Mansuy, Isabelle M (2018). Transgenerational inheritance of behavioral and metabolic effects of paternal exposure to traumatic stress in early postnatal life: evidence in the 4th generation. Environmental Epigenetics, 4(2):dvy023.

Wallis, Mathew; Baumer, Alessandra; Smaili, Wiam; Jaouad, Imane Cherkaoui; Sefiani, Abdelaziz; Jacobson, Erica; Bowyer, Lucy; Mowat, David; Rauch, Anita (2018). Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency. European Journal of Medical Genetics, 61(4):189-196.

Kliver, Sergei; Rayko, Mike; Komissarov, Alexey; Bakin, Evgeny; Zhernakova, Daria; Prasad, Kasavajhala; Rushworth, Catherine; Baskar, R; Smetanin, Dmitry; Schmutz, Jeremy; Rokhsar, Daniel S; Mitchell-Olds, Thomas; Grossniklaus, Ueli; Brukhin, Vladimir (2018). Assembly of the Boechera retrofracta Genome and Evolutionary Analysis of Apomixis-Associated Genes. Genes, 9(4):185.

Hediger, Nina; Landolt, Markus A; Diez-Fernandez, Carmen; Huemer, Martina; Häberle, Johannes (2018). The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders. Journal of Inherited Metabolic Disease, 41(4):689-698.

Létard, Pascaline; Drunat, Séverine; Vial, Yoann; Duerinckx, Sarah; Ernault, Anais; Amram, Daniel; Arpin, Stéphanie; Bertoli, Marta; Busa, Tiffany; Ceulemans, Berten; Desir, Julie; Doco-Fenzy, Martine; Elalaoui, Siham Chafai; Devriendt, Koenraad; Faivre, Laurence; Francannet, Christine; Geneviève, David; Gérard, Marion; Gitiaux, Cyril; Julia, Sophie; Lebon, Sébastien; Lubala, Toni; Mathieu-Dramard, Michèle; Maurey, Hélène; Metreau, Julia; Nasserereddine, Sanaa; Nizon, Mathilde; Pierquin, Geneviève; Pouvreau, Nathalie; Rivier-Ringenbach, Clothilde; et al (2018). Autosomal recessive primary microcephaly due to ASPM mutations: An update. Human Mutation, 39(3):319-332.

Caspar, S M; Dubacher, N; Kopps, A M; Meienberg, J; Henggeler, C; Matyas, G (2018). Clinical sequencing: From raw data to diagnosis with lifetime value. Clinical Genetics, 93(3):508-519.

Eckers, F; Bauer, D E; Hingsammer, A; Sutter, R; Brand, B; Viehöfer, A; Wirth, S H (2018). Mid- to long-term results of total ankle replacement in patients with haemophilic arthropathy: A 10-year follow-up. Haemophilia, 24(2):307-315.

Bouilly, Justine; Messina, Andrea; Papadakis, Georgios; Cassatella, Daniele; Xu, Cheng; Acierno, James S; Tata, Brooke; Sykiotis, Gerasimos; Santini, Sara; Sidis, Yisrael; Elowe-Gruau, Eglantine; Phan-Hug, Franziska; Hauschild, Michael; Bouloux, Pierre-Marc; Quinton, Richard; Lang-Muritano, Mariarosaria; Favre, Lucie; Marino, Laura; Giacobini, Paolo; Dwyer, Andrew A; Niederländer, Nicolas J; Pitteloud, Nelly (2018). DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development. Human Molecular Genetics, 27(2):359-372.

Vokinger, Kerstin Noëlle; Muehlematter, Urs Jakob; Rosemann, Thomas J (2018). Access to Cancer Precision Medicines in Switzerland: A Comparative Analysis (USA and EU) and Health Policy Implications. Public Health Genomics, 21(5-6):238-243.

Lee, Jessica J Y; Wasserman, Wyeth W; Hoffmann, Georg F; van Karnebeek, Clara D M; Blau, Nenad (2018). Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism. Genetics in Medicine, 20(1):151-158.

Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne (2018). A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20(1):42-54.

Pasutto, Francesca; Flinter, Frances; Rauch, Anita; Reis, André (2018). Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome. American Journal of Medical Genetics. Part A, 176(1):134-138.

Ferrari, Giada; Lischer, Heidi; Neukamm, Judith; Rayo, Enrique; Borel, Nicole; Pospischil, Andreas; Rühli, Frank; Bouwman, Abigail; Campana, Michael (2018). Assessing Metagenomic Signals Recovered from Lyuba, a 42,000-Year-Old Permafrost-Preserved Woolly Mammoth Calf. Genes, 9(9):436.

Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B; Baumer, Alessandra; Boltshauser, Eugen; Steindl, Katharina; Nothnagel, Michael; Schinzel, Albert; Stoeckli, Esther T; Rauch, Anita (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26(2):197-209.

Feeney, Oliver; Borry, Pascal; Felzmann, Heike; Galvagni, Lucia; Haukkala, Ari; Loi, Michele; Nordal, Salvör; Rakic, Vojin; Riso, Brígida; Sterckx, Sigrid; Vears, Danya (2018). Genuine participation in participant-centred research initiatives: the rhetoric and the potential reality. Journal of Community Genetics, 9(2):133-142.

van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; van Vliet, Danique; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat (2018). Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. Journal of Medical Genetics, 55(4):249-253.

Phelps, Ian G; Dempsey, Jennifer C; Grout, Megan E; Isabella, Christine R; Tully, Hannah M; Doherty, Dan; Bachmann-Gagescu, Ruxandra (2018). Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity. Genetics in Medicine, 20(2):223-233.

Skaria, Tom; Bachli, Esther; Schoedon, Gabriele (2018). RSPO3 impairs barrier function of human vascular endothelial monolayers and synergizes with pro-inflammatory IL-1. Molecular Medicine:24:45.

Gerth-Kahlert, Christina; Tiwari, Amit; Hauri-Hohl, Mathias M; Hanson, James V M; Bahr, Angela; Palmowski-Wolfe, Anja; Güngör, Tayfun; Berger, Wolfgang (2018). Unusual retinopathy in a child with severe combined immune deficiency. Ophthalmic Genetics, 39(1):92-94.

2017

Ojeda Naharros, Irene; Gesemann, Matthias; Mateos, José María; Barmettler, Gery; Forbes, Austin; Ziegler, Urs; Neuhauss, Stephan C F; Bachmann-Gagescu, Ruxandra (2017). Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. PLoS Genetics, 13(12):e1007150.

Omasits, Ulrich; Varadarajan, Adithi R; Schmid, Michael; Goetze, Sandra; Melidis, Damianos; Bourqui, Marc; Nikolayeva, Olga; Québatte, Maxime; Patrignani, Andrea; Dehio, Christoph; Frey, Juerg E; Robinson, Mark D; Wollscheid, Bernd; Ahrens, Christian H (2017). An integrative strategy to identify the entire protein coding potential of prokaryotic genomes by proteogenomics. Genome Research, 27(12):2083-2095.

Mueller, Sandro Manuel; Gehrig, Saskia Maria; Petersen, Jens A; Frese, Sebastian; Mihaylova, Violeta; Ligon-Auer, Maria; Khmara, Natalia; Nuoffer, Jean-Marc; Schaller, André; Lundby, Carsten; Toigo, Marco; Jung, Hans H (2017). Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients. Orphanet Journal of Rare Diseases, 12(1):184.

Lardi, Martina; Liu, Yilei; Purtschert, Gabriela; Bolzan de Campos, Samanta; Pessi, Gabriella (2017). Transcriptome Analysis of Paraburkholderia phymatum under Nitrogen Starvation and during Symbiosis with Phaseolus Vulgaris. Genes, 8(12):E389.

Tan, Tiong Yang; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J; et al; Steindl, Katharina; Joset, Pascal; Rauch, Anita (2017). Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. American Journal of Human Genetics, 101(6):985-994.

Rafiullah, Rafiullah; Long, Alyssa B; Ivanova, Anna A; Ali, Hazrat; Berkel, Simone; Mustafa, Ghulam; Paramasivam, Nagarajan; Schlesner, Matthias; Wiemann, Stefan; Wade, Rebecca C; Bolthauser, Eugen; Blum, Martin; Kahn, Richard A; Caspary, Tamara; Rappold, Gudrun A (2017). A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. European Journal of Human Genetics, 25(12):1324-1334.

Colombo, Daniele F; Burger, Lukas; Baubec, Tuncay; Schübeler, Dirk (2017). Binding of high mobility group A proteins to the mammalian genome occurs as a function of AT-content. PLoS Genetics, 13(12):e1007102.

Grünblatt, Edna; Oneda, Beatrice; Ekici, Arif B; Ball, Juliane; Geissler, Julia; Uebe, Steffen; Romanos, Marcel; Rauch, Anita; Walitza, Susanne (2017). High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder. BMC Medical Genomics, 10(1):68.

Schänzer, Anne; Kaiser, Ann-Kathrin; Mühlfeld, Christian; Kulessa, Martin; Paulus, Werner; von Pein, Harald; Rohrbach, Marianne; Viergutz, Lara; Mengel, Eugen; Marquardt, Thorsten; Neubauer, Bernd; Acker, Till; Hahn, Andreas (2017). Quantification of muscle pathology in infantile Pompe disease. Neuromuscular Disorders : NMD, 27(2):141-152.

Stäubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L; Labs, Stephan; Schorderet, Daniel F; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2017). Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Human Molecular Genetics, 26(21):4203-4214.

Auranen, Mari; Toppila, Jussi; Suriyanarayanan, Saranya; Lone, Museer A; Paetau, Anders; Tyynismaa, Henna; Hornemann, Thorsten; Ylikallio, Emil (2017). Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C. Molecular Case Studies, 3(6):a002212.

van Wegberg, A M J; MacDonald, A; Ahring, K; Bélanger-Quintana, A; Blau, Nenad; Bosch, A M; Burlina, A; Campistol, J; Feillet, F; Giżewska, M; Huijbregts, S C; Kearney, S; Leuzzi, V; Maillot, F; Muntau, A C; van Rijn, M; Trefz, F; Walter, J H; van Spronsen, F J (2017). The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet Journal of Rare Diseases, 12(1):162.

Patsenker, Eleonora; Chicca, Andrea; Petrucci, Vanessa; Moghadamrad, Sheida; de Gottardi, Andrea; Hampe, Jochen; Gertsch, Jürg; Semmo, Nasser; Stickel, Felix (2017). 4-O'-methylhonokiol protects from alcohol/carbon tetrachloride-induced liver injury in mice. Journal of Molecular Medicine, 95(10):1077-1089.

Stainier, Didier Y R; Raz, Erez; Lawson, Nathan D; Ekker, Stephen C; Burdine, Rebecca D; Eisen, Judith S; Ingham, Philip W; Schulte-Merker, Stefan; Yelon, Deborah; Weinstein, Brant M; Mullins, Mary C; Wilson, Stephen W; Ramakrishnan, Lalita; Amacher, Sharon L; Neuhauss, Stephan C F; Meng, Anming; Mochizuki, Naoki; Panula, Pertti; Moens, Cecilia B (2017). Guidelines for morpholino use in zebrafish. PLoS Genetics, 13(10):e1007000.

de Groot, Claire; Floriou-Servou, Amalia; Tsai, Yuan-Chen; Früh, Simon; Kohler, Manuela; Parkin, Georgia; Schwerdel, Cornelia; Bosshard, Giovanna; Kaila, Kai; Fritschy, Jean-Marc; Tyagarajan, Shiva K (2017). RhoGEF9 splice isoforms influence neuronal maturation and synapse formation downstream of α2 GABAA receptors. PLoS Genetics, 13(10):e1007073.

Ineichen, Christian; Biller-Andorno, Nikola; Deplazes-Zemp, Anna (2017). Image of Synthetic Biology and Nanotechnology: A Survey among University Students. Frontiers in Genetics, 8:122.

Sterken, Mark G; van Bemmelen van der Plaat, Linda; Riksen, Joost A G; Rodriguez, Miriam; Schmid, Tobias; Hajnal, Alex; Kammenga, Jan E; Snoek, Basten L (2017). Ras/MAPK Modifier Loci Revealed by eQTL in Caenorhabditis elegans. G3 : Genes, Genomes, Genetics, 7(9):3185-3193.

Asadollahi, Reza; Zweier, Markus; Gogoll, Laura; Schiffmann, Raphael; Sticht, Heinrich; Steindl, Katharina; Rauch, Anita (2017). Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60(9):451-464.

Bohacek, Johannes; Engmann, Olivia; Germain, Pierre-Luc; Schelbert, Silvia; Mansuy, Isabelle M (2017). Transgenerational epigenetic inheritance: from biology to society—Summary Latsis Symposium Aug 28–30, 2017, Zürich, Switzerland. In: Latsis Symposium 2017, Zürich, Switzerland, 28 August 2017 - 30 August 2017. Oxford University Press, 1-6.

Guella, Ilaria; McKenzie, Marna B; Evans, Daniel M; Buerki, Sarah E; Toyota, Eric B; Van Allen, Margot I; Epilepsy Genomics Study; Suri, Mohnish; Elmslie, Frances; Deciphering Developmental Disorders Study; Simon, Marleen E H; van Gassen, Koen L I; Héron, Delphine; Keren, Boris; Nava, Caroline; Connolly, Mary B; Demos, Michelle; Farrer, Matthew J (2017). De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. American Journal of Human Genetics, 101(2):300-310.

Xu, C; Lang-Muritano, Mariarosaria; Phan-Hug, F; Dwyer, A A; Sykiotis, G P; Cassatella, D; Acierno, J; Mohammadi, M; Pitteloud, N (2017). Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism. Clinical Genetics, 92(2):213-216.

Oneda, Beatrice; Asadollahi, Reza; Azzarello-Burri, Silvia; Niedrist, Dunja; Baldinger, Rosa; Masood, Rahim; Schinzel, Albert; Latal, Bea; Jenni, Oskar G; Rauch, Anita (2017). Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders. Molecular Syndromology, 8(5):266-271.

Plessl, Tanja; Bürer, Céline; Lutz, Seraina; Yue, Wyatt W; Baumgartner, Matthias R; Froese, D Sean (2017). Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. Human Mutation, 38(8):988-1001.

Schmid, M; Guillaume, F (2017). The role of phenotypic plasticity on population differentiation. Heredity, 119(4):214-225.

Treutlein, Jens; Frank, Josef; Streit, Fabian; et al; Stickel, Felix (2017). Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis. Genes, 8(7):1-12.

Lehman, Anna; Thouta, Samrat; Mancini, Grazia M S; Naidu, Sakkubai; van Slegtenhorst, Marjon; McWalter, Kirsty; Person, Richard; Mwenifumbo, Jill; Salvarinova, Ramona; CAUSES Study; EPGEN Study; Guella, Ilaria; McKenzie, Marna B; Datta, Anita; Connolly, Mary B; Kalkhoran, Somayeh Mojard; Poburko, Damon; Friedman, Jan M; Farrer, Matthew J; Demos, Michelle; Desai, Sonal; Claydon, Thomas (2017). Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. American Journal of Human Genetics, 101(1):65-74.

Van De Weghe, Julie C; Rusterholz, Tamara D S; Latour, Brooke; Grout, Megan E; Aldinger, Kimberly A; Shaheen, Ranad; Dempsey, Jennifer C; Maddirevula, Sateesh; Cheng, Yong-Han H; Phelps, Ian G; Gesemann, Matthias; Goel, Himanshu; Birk, Ohad S; Alanzi, Talal; Rawashdeh, Rifaat; Khan, Arif O; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Dobyns, William B; Alkuraya, Fowzan S; Roepman, Ronald; Bachmann-Gagescu, Ruxandra; Doherty, Dan (2017). Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics, 101(1):23-36.

Herdman, Chelsea; Mars, Jean-Clement; Stefanovsky, Victor Y; Tremblay, Michel G; Sabourin-Felix, Marianne; Lindsay, Helen; Robinson, Mark D; Moss, Tom (2017). A unique enhancer boundary complex on the mouse ribosomal RNA genes persists after loss of Rrn3 or UBF and the inactivation of RNA polymerase I transcription. PLoS Genetics, 13(7):e1006899.

Gallego-Villar, L; Hannibal, L; Häberle, Johannes; Thöny, Beat; Ben-Omran, T; Nasrallah, G K; Dewik, Al-N; Kruger, W D; Blom, H J (2017). Cysteamine revisited: repair of arginine to cysteine mutations. Journal of Inherited Metabolic Disease, 40(4):555-567.

von Mackensen, S; Kalnins, W; Krucker, J; Weiss, J; Miesbach, W; Albisetti, M; Pabinger, I; Oldenburg, J (2017). Haemophilia patients' unmet needs and their expectations of the new extended half-life factor concentrates. Haemophilia, 23(4):566-574.

Bulla, O; Poncet, A; Alberio, L; Asmis, L M; Gähler, A; Graf, L; Nagler, M; Studt, J D; Tsakiris, D A; Fontana, P (2017). Impact of a product-specific reference standard for the measurement of a PEGylated rFVIII activity: the Swiss Multicentre Field Study. Haemophilia, 23(4):e335-e339.

Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sébastien; Olivié, Hilde; Park, Soo-Mi; Rauch, Anita; Revencu, Nicole; Rivière, Jean-Baptiste; Rubin, Karol; Simonic, Ingrid; Shears, Deborah J; Smol, Thomas; Taylor Tavares, Ana Lisa; Terhal, Paulien; Thevenon, Julien; Van Gassen, Koen; Vincent-Delorme, Catherine; et al (2017). STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Journal of Medical Genetics, 54(7):479-488.

Nettesheim, Susanne; Kölker, Stefan; Karall, Daniela; Häberle, Johannes; Posset, Roland; Hoffmann, Georg F; Heinrich, Beate; Gleich, Florian; Garbade, Sven F; Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS) (2017). Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland. Orphanet Journal of Rare Diseases, 12(1):111.

Gabriele, Michele; Vulto-van Silfhout, Anneke T; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman; Douglas, Evelyn; Haan, Eric; Kosaki, Kenjiro; Takenouchi, Toshiki; Rauch, Anita; Steindl, Katharina; Frengen, Eirik; Misceo, Doriana; Pedurupillay, Christeen Ramane J; Stromme, Petter; Rosenfeld, Jill A; Shao, Yunru; Craigen, William J; Schaaf, Christian P; Rodriguez-Buritica, David; Farach, Laura; Friedman, Jennifer; Thulin, Perla; McLean, Scott D; Nugent, Kimberly M; Morton, Jenny; Nicholl, Jillian; Andrieux, Joris; Stray-Pedersen, Asbjørg; Chambon, Pascal; et al (2017). YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics, 100(6):907-925.

Schnitzler, Lukas J; Schreckenbach, Tobias; Nadaj-Pakleza, Aleksandra; Stenzel, Werner; Rushing, Elisabeth J; Van Damme, Philip; Ferbert, Andreas; Petri, Susanne; Hartmann, Christian; Bornemann, Antje; Meisel, Andreas; Petersen, Jens A; Tousseyn, Thomas; Thal, Dietmar R; Reimann, Jens; De Jonghe, Peter; Martin, Jean-Jacques; Van den Bergh, Peter Y; Schulz, Jörg B; Weis, Joachim; Claeys, Kristl G (2017). Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. Orphanet Journal of Rare Diseases, 12(1):86.

Fritz, Ann-Kristina; Amrein, Irmgard; Wolfer, David P (2017). Similar reliability and equivalent performance of female and male mice in the open field and water-maze place navigation task. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 175(3):380-391.

Dempsey, Jennifer C; Phelps, Ian G; Bachmann-Gagescu, Ruxandra; Glass, Ian A; Tully, Hannah M; Doherty, Dan (2017). Mortality in Joubert syndrome. American Journal of Medical Genetics. Part A, 173(5):1237-1242.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Häberle, Johannes (2017). Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. Human Mutation, 38(5):471-484.

Zweier, Markus; Peippo, Maarit M; Pöyhönen, Minna; Kääriäinen, Helena; Begemann, Anaïs; Joset, Pascal; Oneda, Beatrice; Rauch, Anita (2017). The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. American Journal of Medical Genetics. Part A, 173(5):1440-1443.

Plecko, Barbara; Zweier, Markus; Begemann, Anaïs; Mathis, Deborah; Schmitt, Bernhard; Striano, Pasquale; Baethmann, Martina; Vari, Maria Stella; Beccaria, Francesca; Zara, Federico; Crowther, Lisa M; Joset, Pascal; Sticht, Heinrich; Papuc, Sorina Mihaela; Rauch, Anita (2017). Confirmation of mutations in PROSC as a novel cause of vitamin B6 -dependent epilepsy. Journal of Medical Genetics, 54(12):809-814.

Bouwman, Abigail; Shved, Natallia; Akgül, Gülfirde; Rühli, Frank; Warinner, Christina (2017). Ancient DNA investigation of a medieval german cemetery confirms long-term stability of CCR5-Δ32 allele frequencies in Central Europe. Human Biology; An International Record of Research, 89(2):119-124.

Ravindran, Ethiraj; Hu, Hao; Yuzwa, Scott A; Hernandez-Miranda, Luis R; Kraemer, Nadine; Ninnemann, Olaf; Musante, Luciana; Boltshauser, Eugen; Schindler, Detlev; Hübner, Angela; Reinecker, Hans-Christian; Ropers, Hans-Hilger; Birchmeier, Carmen; Miller, Freda D; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M (2017). Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genetics, 13(4):e1006746.

Franz, Alexandra; Shlyueva, Daria; Brunner, Erich; Stark, Alexander; Basler, Konrad (2017). Probing the canonicity of the Wnt/Wingless signaling pathway. PLoS Genetics, 13(4):e1006700.

Emmert, Maximilian Y; Fioretta, Emanuela S; Hoerstrup, Simon P (2017). Translational challenges in cardiovascular tissue engineering. Journal of Cardiovascular Translational Research, 10(2):139-149.

Acuna-Hidalgo, Rocio; Deriziotis, Pelagia; Steehouwer, Marloes; Gilissen, Christian; Graham, Sarah A; van Dam, Sipko; Hoover-Fong, Julie; Telegrafi, Aida B; Destree, Anne; Smigiel, Robert; Lambie, Lindsday A; Kayserili, Hülya; Altunoglu, Umut; Lapi, Elisabetta; Uzielli, Maria Luisa; Aracena, Mariana; Nur, Banu G; Mihci, Ercan; Moreira, Lilia M A; Borges Ferreira, Viviane; Horovitz, Dafne D G; da Rocha, Katia M; Jezela-Stanek, Aleksandra; Brooks, Alice S; Reutter, Heiko; Cohen, Julie S; Fatemi, Ali; Smitka, Martin; Grebe, Theresa A; Di Donato, Nataliya; et al (2017). Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics, 13(3):e1006683.

Caspar, S; Meienberg, J; Matyas, G (2017). Response to: The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections. Clinical Genetics, 91(3):501.

Malfait, Fransiska; Francomano, Clair; Byers, Peter; Belmont, John; Berglund, Britta; Black, James; Bloom, Lara; Bowen, Jessica M; Brady, Angela F; Burrows, Nigel P; Castori, Marco; Cohen, Helen; Colombi, Marina; Demirdas, Serwet; De Backer, Julie; De Paepe, Anne; Fournel-Gigleux, Sylvie; Frank, Michael; Ghali, Neeti; Giunta, Cecilia; Grahame, Rodney; Hakim, Alan; Jeunemaitre, Xavier; Johnson, Diana; Juul-Kristensen, Birgit; Kapferer-Seebacher, Ines; Kazkaz, Hanadi; Kosho, Tomoki; Lavallee, Mark E; Levy, Howard; Mendoza-Londono, Roberto; Pepin, Melanie; Pope, F. Michael; Reinstein, Eyal; Robert, Leema; Rohrbach, Marianne; Sanders, Lynn; Sobey, Glenda J; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Wheeldon, Nigel; Zschocke, Johannes; Tinkle, Brad (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 175(1):8-26.

Brady, Angela F; Demirdas, Serwet; Fournel-Gigleux, Sylvie; Ghali, Neeti; Giunta, Cecilia; Kapferer-Seebacher, Ines; Kosho, Tomoki; Mendoza-Londono, Roberto; Pope, Michael F; Rohrbach, Marianne; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Zschocke, Johannes; Malfait, Fransiska (2017). The Ehlers-Danlos syndromes, rare types. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 175(1):70-115.

Bolognini, Ramona; Gerth-Kahlert, Christina; Abegg, Mathias; Bartholdi, Deborah; Mathis, Nicolas; Sturm, Veit; Gallati, Sabina; Schaller, André (2017). Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. BMC Medical Genetics, 18(1):22.

Marinova, Zoya; Maercker, Andreas; Küffer, Andreas; Robinson, Mark D; Wojdacz, Tomasz K; Walitza, Susanne; Grünblatt, Edna; Burri, Andrea (2017). DNA methylation profiles of elderly individuals subjected to indentured childhood labor and trauma. BMC Medical Genetics, 18(1):21.

Anikster, Yair; Haack, Tobias B; Vilboux, Thierry; Pode-Shakked, Ben; Thöny, Beat; Shen, Nan; Guarani, Virginia; Meissner, Thomas; Mayatepek, Ertan; Trefz, Friedrich K; Marek-Yagel, Dina; Martinez, Aurora; Huttlin, Edward L; Paulo, Joao A; Berutti, Riccardo; Benoist, Jean-François; Imbard, Apolline; Dorboz, Imen; Heimer, Gali; Landau, Yuval; Ziv-Strasser, Limor; Malicdan, May Christine V; Gemperle-Britschgi, Corinne; Cremer, Kirsten; Engels, Hartmut; Meili, David; Keller, Irene; Bruggmann, Rémy; Strom, Tim M; Meitinger, Thomas; Mullikin, James C; Schwartz, Gerard; Ben-Zeev, Bruria; Gahl, William A; Harper, J Wade; Blau, Nenad; Hoffmann, Georg F; Prokisch, Holger; Opladen, Thomas; Schiff, Manuel (2017). Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. American Journal of Human Genetics, 100(2):257-266.

Walser, Michael; Umbricht, Christoph Alois; Fröhli, Erika; Nanni, Paolo; Hajnal, Alex (2017). β-Integrin de-phosphorylation by the Density-Enhanced Phosphatase DEP-1 attenuates EGFR signaling in C. elegans. PLoS Genetics, 13(1):e1006592.

Richardson, Rose; Sowden, Jane; Gerth-Kahlert, Christina; Moore, Anthony T; Moosajee, Mariya (2017). Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. European Journal of Human Genetics, 25:e1-e6.

Wassenberg, Tessa; Molero-Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg F; Assmann, Birgit; Blau, Nenad; Garcia-Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni S; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip L; Lee, Wang Tso; Kurian, Manju A; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, Michèl; Opladen, Thomas (2017). Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases, 12(1):12.

Neubauer, Jacqueline; Lecca, Maria Rita; Russo, Giancarlo; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang; Haas, Cordula (2017). Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. European Journal of Human Genetics, 25(4):404-409.

Reuter, Miriam S; Riess, Angelika; Moog, Ute; Briggs, Tracy A; Chandler, Kate E; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Gläser, Dieter; Joset, Pascal; DDD Study; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Wödl, Stefanie; Kohlhase, Jürgen; Reis, André; Zweier, Christiane (2017). FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Journal of Medical Genetics, 54(1):64-72.

Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1):21-48.

Morris, Andrew A M; Kožich, Viktor; Santra, Saikat; Andria, Generoso; Ben-Omran, Tawfeg I M; Chakrapani, Anupam B; Crushell, Ellen; Henderson, Mick J; Hochuli, Michel; Huemer, Martina; Janssen, Miriam C H; Maillot, Francois; Mayne, Philip D; McNulty, Jenny; Morrison, Tara M; Ogier, Helene; O'Sullivan, Siobhan; Pavlíková, Markéta; de Almeida, Isabel Tavares; Terry, Allyson; Yap, Sufin; Blom, Henk J; Chapman, Kimberly A (2017). Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. Journal of Inherited Metabolic Disease, 40(1):49-74.

Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R; Harting, Inga; Hoffmann, Georg F; Karall, Daniela; Koeller, David M; Krawinkel, Michael B; Okun, Jürgen G; Opladen, Thomas; Posset, Roland; Sahm, Katja; Zschocke, Johannes; Kölker, Stefan (2017). Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. Journal of Inherited Metabolic Disease, 40(1):75-101.

Blattner, Ariane C; Aguilar-Rodríguez, José; Kränzlin, Marcella; Wagner, Andreas; Lehner, Christian F (2017). Drosophila Nnf1 paralogs are partially redundant for somatic and germ line kinetochore function. Chromosoma, 126(1):145-163.

Burda, Patricie; Suormala, Terttu; Heuberger, Dorothea; Schäfer, Alexandra; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2017). Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. Journal of Inherited Metabolic Disease, 40(2):297-306.

Michalakis, Stylianos; Schön, Christian; Becirovic, Elvir; Biel, Martin (2017). Gene therapy for achromatopsia. Journal of Gene Medicine, 19(3):e2944-e2944.

Rellstab, C; Fischer, M C; Zoller, S; Graf, R; Tedder, Andrew; Shimizu, Kentaro K; Widmer, A; Holderegger, R; Gugerli, F (2017). Local adaptation (mostly) remains local: reassessing environmental associations of climate-related candidate SNPs in Arabidopsis halleri. Heredity, 118(2):193-201.

Guo, Dong-chuan; Duan, Xue-Yan; Regalado, Ellen S; Mellor-Crummey, Lauren; Kwartler, Callie S; Kim, Dong; Lieberman, Kenneth; de Vries, Bert B.A; Pfundt, Rolph; Schinzel, Albert; Kotzot, Dieter; Shen, Xuetong; Yang, Min-Lee; Bamshad, Michael J; Nickerson, Deborah A; Gornik, Heather L; Ganesh, Santhi K; Braverman, Alan C; Grange, Dorothy K; Milewicz, Dianna M (2017). Loss-of-function mutations in YY1AP1 lead to grange syndrome and a fibromuscular dysplasia-like vascular disease. American Journal of Human Genetics, 100(1):21-30.

Landfried, Britta; Grimm, C (2017). Neuroprotektion geschädigter Photorezeptoren. Medizinische Genetik:234-238.

Baroux, Célia; Pecinka, Ales; Fuchs, Jörg; Kreth, Gregor; Schubert, Ingo; Grossniklaus, Ueli (2017). Non-random chromosome arrangement in triploid endosperm nuclei. Chromosoma, 126(1):115-124.

Kresoja-Rakic, Jelena; Sulemani, Merve; Kirschner, Michaela B; Ronner, Manuel; Reid, Glen; Kao, Steven; Schwaller, Beat; Weder, Walter; Stahel, Rolf A; Felley-Bosco, Emanuela (2017). Posttranscriptional regulation controls calretinin expression in malignant pleural mesothelioma. Frontiers in Genetics, 8:70.

Fischer, Matthias; Cabello, Victoria; Popp, Sandy; Krackow, Sven; Hommers, Leif; Deckert, Jürgen; Lesch, Klaus-Peter; Schmitt-Böhrer, Angelika G (2017). Rsk2 knockout affects emotional behavior in the IntelliCage. Behavior Genetics, 47(4):434-448.

2016

Ardissone, Silvia; Redder, Peter; Russo, Giancarlo; Frandi, Antonio; Fumeaux, Coralie; Patrignani, Andrea; Schlapbach, Ralph; Falquet, Laurent; Viollier, Patrick H (2016). Cell cycle constraints and environmental control of local DNA hypomethylation in α-proteobacteria. PLoS Genetics, 12(12):e1006499.

Guella, Ilaria; Huh, Linda; McKenzie, Marna B; Toyota, Eric B; Bebin, E Martina; Thompson, Michelle L; Cooper, Gregory M; Evans, Daniel M; Buerki, Sarah E; Adam, Shelin; Van Allen, Margot I; Nelson, Tanya N; Connolly, Mary B; Farrer, Matthew J; Demos, Michelle (2016). De novo mutation in 2 patients with neonatal-onset epilepsy. Neurology Genetics, 2(6):e120.

Hahn, Elisabeth; Gottschling, Juliana; Bleidorn, Wiebke; Kandler, Christian; Spengler, Marion; Kornadt, Anna E; Schulz, Wiebke; Schunck, Reinhardt; Baier, Tina; Krell, Kristina; Lang, Volker; Lenau, Franziska; Peters, Anna-Lena; Diewald, Martin; Riemann, Rainer; Spinath, Frank M (2016). What Drives the Development of Social Inequality Over the Life Course? The German TwinLife Study. Twin Research and Human Genetics, 19(6):659-672.

Kuemmerle, Jan M; Theiss, Felix; Okoniewski, Michal J; Weber, Fabienne A; Hemmi, Sonja; Mirsaidi, Ali; Richards, Peter J; Cinelli, Paolo (2016). Identification of novel Equine (Equus caballus) tendon markers using RNA sequencing. Genes, 7(11):97.

Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; Nissen, Anke; Brigatti, Karlla W; Puffenberger, Erik G; Millen, Kathleen J; Strauss, Kevin A; Dobyns, William B; Troy, Carol M; Jinks, Robert N (2016). Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant. American Journal of Human Genetics, 99(5):1117-1129.

Kapferer-Seebacher, Ines; Pepin, Melanie; Werner, Roland; Aitman, Timothy J; Nordgren, Ann; Stoiber, Heribert; Thielens, Nicole; Gaboriaud, Christine; Amberger, Albert; Schossig, Anna; Gruber, Robert; Giunta, Cecilia; Bamshad, Michael; Björck, Erik; Chen, Christina; Chitayat, David; Dorschner, Michael; Schmitt-Egenolf, Marcus; Hale, Christopher J; Hanna, David; Hennies, Hans Christian; Heiss-Kisielewsky, Irene; Lindstrand, Anna; Lundberg, Pernilla; Mitchell, Anna L; Nickerson, Deborah A; Reinstein, Eyal; Rohrbach, Marianne; Romani, Nikolaus; Schmuth, Matthias; et al (2016). Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement. American Journal of Human Genetics, 99(5):1005-1014.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Santra, Saikat; Lund, Allan M; Santer, René; Lindner, Martin; Tangeraas, Trine; Unsinn, Caroline; de Lonlay, Pascale; Burlina, Alberto; van Karnebeek, Clara D M; Häberle, Johannes (2016). Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genetics in Medicine, 18(10):991-1000.

Diez-Fernandez, Carmen; Wellauer, Olivia; Gemperle, Corinne; Rüfenacht, Véronique; Fingerhut, Ralph; Häberle, Johannes (2016). Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. Journal of Medical Genetics, 53(10):710-719.

Reis, L M; Tyler, R C; Weh, E; Hendee, K E; Schilter, K F; Phillips, J A; Sequeira, S; Schinzel, A; Semina, E V (2016). Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. Clinical Genetics, 90(4):378-382.

Vozikis, Athanassios; Cooper, David N; Mitropoulou, Christina; Kambouris, Manousos E; Brand, Angela; Dolzan, Vita; Fortina, Paolo; Innocenti, Federico; Lee, Ming Ta Michael; Leyens, Lada; Macek, Milan; Al-Mulla, Fahd; Prainsack, Barbara; Squassina, Alessio; Taruscio, Domenica; van Schaik, Ron H; Vayena, Effy; Williams, Marc S; Patrinos, George P (2016). Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy. Public Health Genomics, 19(6):352-363.

Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli; Watson, Corey T; Azam, Nidha; Ho, Daniel; Li, Xin; Antonarakis, Stylianos E; Brunner, Han G; Buiting, Karin; Cheung, Sau Wai; Coffee, Bradford; Eggermann, Thomas; Francis, David; Geraedts, Joep P; Gimelli, Giorgio; Jacobson, Samuel G; Le Caignec, Cedric; de Leeuw, Nicole; Liehr, Thomas; Mackay, Deborah J; Montgomery, Stephen B; Pagnamenta, Alistair T; Papenhausen, Peter; Robinson, David O; Ruivenkamp, Claudia; Schwartz, Charles; Steiner, Bernhard; Stevenson, David A; et al (2016). DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. American Journal of Human Genetics, 99(3):555-566.

Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi-Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B; Burgard, Peter; Cortès-Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L; Sykut-Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M; Chakrapani, Anupam; Schiff, Manuel; Walter, John H; Zeman, Jiri; Vara, Roshni; Kölker, Stefan; E-IMD consortium (2016). Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Journal of Inherited Metabolic Disease, 39(5):661-672.

Van Damme, Tim; Colige, Alain; Syx, Delfien; Giunta, Cecilia; Lindert, Uschi; Rohrbach, Marianne; Aryani, Omid; Alanay, Yasemin; Simsek-Kiper, Pelin Özlem; Kroes, Hester Y; Devriendt, Koen; Thiry, Marc; Symoens, Sofie; De Paepe, Anne; Malfait, Fransiska (2016). Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. Genetics in Medicine, 18(9):882-91.

Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-Gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hülya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R; McKanna, Trudy; Van Keirsbilck, Joachim; Moerman, Philippe; Poretti, Andrea; Puri, Ratna; Van Esch, Hilde; Gleeson, Joseph G; Valente, Enza Maria (2016). Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Journal of Medical Genetics, 53(9):608-615.

Unsinn, Caroline; Das, Anibh; Valayannopoulos, Vassili; Thimm, Eva; Beblo, Skadi; Burlina, Alberto; Konstantopoulou, Vassiliki; Mayorandan, Sebene; de Lonlay, Pascale; Rennecke, Jörg; Derbinski, Jens; Hoffmann, Georg F; Häberle, Johannes (2016). Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. Orphanet Journal of Rare Diseases, 11(1):116.

Adam, Ronja; Spier, Isabel; Zhao, Bixiao; et al; Marra, Giancarlo (2016). Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis. American Journal of Human Genetics, 99(2):337-351.

Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria (2016). Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). European Journal of Human Genetics, 24(9):1262-1267.

Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elżbieta; Rudzka-Dybała, Mariola; Yiş, Uluç; Çağlayan, Hande; Isapof, Arnaud; Marey, Isabelle; Panagiotakaki, Eleni; Korff, Christian; Rossier, Eva; Riess, Angelika; Beck-Woedl, Stefanie; Rauch, Anita; Zweier, Christiane; Hoyer, Juliane; Reis, André; Mironov, Mikhail; Bobylova, Maria; Mukhin, Konstantin; et al (2016). Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Journal of Medical Genetics, 53(8):511-522.

Bader, Ingrid; Decker, E; Mayr, J A; Lunzer, V; Koch, J; Boltshauser, E; Sperl, W; Pietsch, P; Ertl-Wagner, B; Bolz, H; Bergmann, C; Rittinger, O (2016). MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. European Journal of Medical Genetics, 59(8):386-391.

Forny, Patrick; Schnellmann, Anne-Sophie; Buerer, Celine; Lutz, Seraina; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2016). Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. Human Mutation, 37(8):745-754.

Gehrig, Saskia Maria; Mihaylova, Violeta; Frese, Sebastian; Mueller, Sandro Manuel; Ligon-Auer, Maria; Spengler, Christina M; Petersen, Jens A; Lundby, Carsten; Jung, Hans H (2016). Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy. Orphanet Journal of Rare Diseases, 11(1):105.

Wente, Sarah; Schröder, Simone; Buckard, Johannes; Büttel, Hans-Martin; von Deimling, Florian; Diener, Wilfried; Häussler, Martin; Hübschle, Susanne; Kinder, Silvia; Kurlemann, Gerhard; Kretzschmar, Christoph; Lingen, Michael; Maroske, Wiebke; Mundt, Dirk; Sánchez-Albisua, Iciar; Seeger, Jürgen; Toelle, Sandra P; Boltshauser, Eugen; Brockmann, Knut (2016). Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. Orphanet Journal of Rare Diseases, 11(1):104.

Elsayed, Solaf M; Thöny, Beat (2016). BH4 deficiency with unusual presentations: Challenges and lessons. Egyptian Journal of Medical Human Genetics, 17(3):241-242.

Brevik, Erlend J; van Donkelaar, Marjolein M J; Weber, Heike; Sánchez-Mora, Cristina; Jacob, Christian; Rivero, Olga; Kittel-Schneider, Sarah; Garcia-Martínez, Iris; Aebi, Marcel; van Hulzen, Kimm; Cormand, Bru; Ramos-Quiroga, Josep A; IMAGE Consortium; Lesch, Klaus-Peter; Reif, Andreas; Ribasés, Marta; Franke, Barbara; Posserud, Maj-Britt; Johansson, Stefan; Lundervold, Astri J; Haavik, Jan; Zayats, Tetyana (2016). Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 171(5):733-747.

Sancho-Vaello, Enea; Marco-Marín, Clara; Gougeard, Nadine; Fernández-Murga, Leonor; Rüfenacht, Véronique; Mustedanagic, Merima; Rubio, Vicente; Häberle, Johannes (2016). Understanding N-acetyl-L-glutamate synthase deficiency: mutational spectrum, impact of clinical mutations on enzyme functionality, and structural considerations. Human Mutation, 37(7):679-694.

Galson, Jacob D; Trück, Johannes; Clutterbuck, Elizabeth A; Fowler, Anna; Cerundolo, Vincenzo; Pollard, Andrew J; Lunter, Gerton; Kelly, Dominic F (2016). B-cell repertoire dynamics after sequential hepatitis B vaccination and evidence for cross-reactive B-cell activation. Genome Medicine, 8:68.

Bouwman, Abigail S; Rühli, Frank J (2016). Archaeogenetics in evolutionary medicine. Journal of Molecular Medicine:1-7.

Blau, Nenad (2016). Genetics of phenylketonuria: then and now. Human Mutation, 37(6):508-515.

De Lella Ezcurra, Ana Laura; Bertolin, Agustina Paola; Kim, Kevin; Katz, Maximiliano Javier; Gándara, Lautaro; Misra, Tvisha; Luschnig, Stefan; Perrimon, Norbert; Melani, Mariana; Wappner, Pablo (2016). miR-190 Enhances HIF-Dependent Responses to Hypoxia in Drosophila by Inhibiting the Prolyl-4-hydroxylase Fatiga. PLoS Genetics, 12(5):e1006073.

Froese, D Sean; Huemer, Martina; Suormala, Terttu; Burda, Patricie; Coelho, David; Guéant, Jean-Louis; Landolt, Markus A; Kožich, Viktor; Fowler, Brian; Baumgartner, Matthias R (2016). Mutation update and review of severe methylenetetrahydrofolate reductase deficiency. Human Mutation, 37(5):427-438.

Zschocke, Johannes; Baumgartner, Matthias R; Morava, Eva; Patterson, Marc C; Peters, Verena; Rahman, Shamima (2016). Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest. Journal of Inherited Metabolic Disease, 39(3):327-329.

Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular Genetics & Genomic Medicine, 4(3):359-366.

Blattner, Ariane C; Chaurasia, Soumya; McKee, Bruce D; Lehner, Christian F (2016). Separase is required for homolog and sister disjunction during drosophila melanogaster male meiosis, but not for biorientation of sister centromeres. PLoS Genetics, 12(4):e1005996.

Santer, René; du Moulin, Marcel; Shahinyan, Tatevik; Vater, Inga; Maier, Esther; Muntau, Ania C; Steinmann, Beat (2016). A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis. Orphanet Journal of Rare Diseases, 11:40-50.

Steiner, Urs C; Weber-Chrysochoou, Christina; Helbling, Arthur; Scherer, Kathrin; Grendelmeier, Peter Schmid; Wuillemin, Walter A (2016). Hereditary angioedema due to C1 - inhibitor deficiency in Switzerland: clinical characteristics and therapeutic modalities within a cohort study. Orphanet Journal of Rare Diseases, 11:43.

Liu, Chunqiao; Widen, Sonya A; Williamson, Kathleen A; Ratnapriya, Rinki; Gerth-Kahlert, Christina; Rainger, Joe; Alur, Ramakrishna P; Strachan, Erin; Manjunath, Souparnika H; Balakrishnan, Archana; Floyd, James A; Li, Tiansen; Waskiewicz, Andrew; Brooks, Brian P; Lehmann, Ordan J; FitzPatrick, David R; Swaroop, Anand (2016). A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. Human Molecular Genetics, 25(7):1382-1391.

Mooney, Michael A; McWeeney, Shannon K; Faraone, Stephen V; Hinney, Anke; Hebebrand, Johannes; Nigg, Joel T; Wilmot, Beth (2016). Pathway analysis in attention deficit hyperactivity disorder: An ensemble approach. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 171(6):815-826.

Meienberg, Janine; Bruggmann, Rémy; Oexle, Konrad; Matyas, Gabor (2016). Clinical sequencing: is WGS the better WES? Human Genetics, 135(3):359-362.

Korner, Germaine; Scherer, Tanja; Adamsen, Dea; Rebuffat, Alexander; Crabtree, Mark; Rassi, Anahita; Scavelli, Rossana; Homma, Daigo; Ledermann, Birgit; Konrad, Daniel; Ichinose, Hiroshi; Wolfrum, Christian; Horsch, Marion; Rathkolb, Birgit; Klingenspor, Martin; Beckers, Johannes; Wolf, Eckhard; Gailus-Durner, Valérie; Fuchs, Helmut; Hrabě de Angelis, Martin; Blau, Nenad; Rozman, Jan; Thöny, Beat (2016). Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice. Journal of Inherited Metabolic Disease, 39(2):309-319.

Leuenberger, Caroline; Schuoler, Claudio; Bye, Hannah; Mignan, Célia; Rechsteiner, Thomas; Hillinger, Sven; Opitz, Isabelle; Marsland, Benjamin; Faiz, Alen; Hiemstra, Pieter S; Timens, Wim; Camici, Giovanni G; Kohler, Malcolm; Huber, Lars C; Brock, Matthias (2016). MicroRNA-223 controls the expression of histone deacetylase 2: a novel axis in COPD. Journal of Molecular Medicine, 94(6):725-734.

Pölsler, Laura; Fiegl, Heidi; Wimmer, Katharina; Oberaigner, Willi; Amberger, Albert; Traunfellner, Pia; Morscher, Raphael J; Weber, Ingrid; Fauth, Christine; Wernstedt, Annekatrin; Sperner-Unterweger, Barbara; Oberguggenberger, Anne; Hubalek, Michael; Marth, Christian; Zschocke, Johannes (2016). High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing. European Journal of Human Genetics, 24(2):258-62.

Hollak, Carla E M; Biegstraaten, Marieke; Baumgartner, Matthias R; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Brouwers, Martijn; Dekker, Hanka; Dobbelaere, Dries; Engelen, Marc; Groenendijk, Marike C; Lachmann, Robin; Langendonk, Janneke G; Langeveld, Mirjam; Linthorst, Gabor; Morava, Eva; Poll-The, Bwee Tien; Rahman, Shamima; Rubio-Gozalbo, M Estela; Spiekerkoetter, Ute; Treacy, Eileen; Wanders, Ronald; Zschocke, Johannes; Hagendijk, Rob (2016). Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Orphanet Journal of Rare Diseases, 11(7):online.

McLaren, Paul J; Raisaro, Jean Louis; Aouri, Manel; Rotger, Margalida; Ayday, Erman; Bartha, István; Delgado, Maria B; Vallet, Yannick; Günthard, Huldrych F; Cavassini, Matthias; Furrer, Hansjakob; Doco-Lecompte, Thanh; Marzolini, Catia; Schmid, Patrick; Di Benedetto, Caroline; Decosterd, Laurent A; Fellay, Jacques; Hubaux, Jean-Pierre; Telenti, Amalio (2016). Privacy-preserving genomic testing in the clinic: a model using HIV treatment. Genetics in Medicine, 18(8):814-822.

Näf, Ernst; Laubscher, Dominik; Hopfer, Helmut; Streit, Markus; Matyas, Gabor (2016). Birt-Hogg-Dubé syndrome: novel FLCN frameshift deletion in daughter and father with renal cell carcinomas. Familial cancer, 15(1):127-32.

König, Matthias A; Canepa, Daisy D; Cadosch, Dieter; Casanova, Elisa; Heinzelmann, Michael; Rittirsch, Daniel; Plecko, Michael; Hemmi, Sonja; Simmen, Hans-Peter; Cinelli, Paolo; Wanner, Guido A (2016). Direct transplantation of native pericytes from adipose tissue: A new perspective to stimulate healing in critical size bone defects. Cytotherapy, 18(1):41-52.

Fischer, K; Iorio, A; Hollingsworth, R; Makris, M; EUHASS collaborators (2016). FVIII inhibitor development according to concentrate: data from the EUHASS registry excluding overlap with other studies. Haemophilia, 22(1):36-8.

Messemaker, T C; Frank-Bertoncelj, M; Marques, R B; Adriaans, A; Bakker, A M; Daha, N; Gay, S; Huizinga, T W; Toes, R E M; Mikkers, H M M; Kurreeman, F (2016). A novel long non-coding RNA in the rheumatoid arthritis risk locus TRAF1-C5 influences C5 mRNA levels. Genes and immunity, 17(2):85-92.

Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch-Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R; Rauch, Anita (2016). A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part A, 170(2):392-402.

Schneider, Daniel; Riegman, Peter H J; Cronin, Maureen; Negrouk, Anastassia; Moch, Holger; Balling, Rudi; Penault-Llorca, Frederiques; Zatloukal, Kurt; Horgan, Denis (2016). Accelerating the Development and Validation of New Value-Based Diagnostics by Leveraging Biobanks. Public Health Genomics, 19(3):160-169.

Jamiolkowski, Dagmar; Kölker, Stefan; Glahn, Esther M; Barić, Ivo; Zeman, Jiri; Baumgartner, Matthias R; Mühlhausen, Chris; Garcia-Cazorla, Angels; Gleich, Florian; Haege, Gisela; Burgard, Peter (2016). Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders. Journal of Inherited Metabolic Disease, 39(2):231-241.

Huemer, Martina; Mulder-Bleile, Regina; Burda, Patricie; et al (2016). Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Journal of Inherited Metabolic Disease, 39(1):115-124.

Huemer, Martina; Carvalho, Daniel R; Brum, Jaime M; Ünal, Özlem; Coskun, Turgay; Weisfeld-Adams, James D; Schrager, Nina L; Scholl-Bürgi, Sabine; Schlune, Andrea; Donner, Markus G; Hersberger, Martin; Gemperle, Claudio; Riesner, Brunhilde; Ulmer, Hanno; Häberle, Johannes; Karall, Daniela (2016). Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. Journal of Inherited Metabolic Disease, 39(3):331-340.

Himmels, Sarah-Felicitas; Sartori, Alessandro A (2016). Controlling DNA-end resection: an emerging task for ubiquitin and SUMO. Frontiers in Genetics, 7:152.

Chong, Jessica X; Yu, Joon-Ho; Lorentzen, Peter; Park, Karen M; Jamal, Seema M; Tabor, Holly K; Rauch, Anita; Saenz, Margarita Sifuentes; Boltshauser, Eugen; Patterson, Karynne E; Nickerson, Deborah A; Bamshad, Michael J (2016). Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genetics in Medicine, 18(8):788-795.

Esposito, G; Burgunder, J M; Dunlop, J; Gorwood, P; Inamdar, A; Pfister, S M; Pochet, R; van den Bent, M J; Van Hoylandt, N; Weller, M; Westphal, M; Wick, W; Nutt, D (2016). Gene-Tailored Treatments for Brain Disorders: Challenges and Opportunities. Public Health Genomics, 19(3):170-177.

Aebi, Marcel; van Donkelaar, Marjolein M J; Poelmans, Geert; Buitelaar, Jan K; Sonuga-Barke, Edmund J S; Stringaris, Argyris; Faraone, Stephen V; Franke, Barbara; Steinhausen, Hans-Christoph; van Hulzen, Kimm J E (2016). Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 171(5):573-588.

Nietlisbach, Pirmin; Keller, Lukas F; Postma, Erik (2016). Genetic variance components and heritability of multiallelic heterozygosity under inbreeding. Heredity, 116:1-11.

Bode, Heiko; Bourquin, Florence; Suriyanarayanan, Saranya; Wei, Yu; Alecu, Irina; Othman, Alaa; von Eckardstein, Arnold; Hornemann, Thorsten (2016). HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship. Human Molecular Genetics, 25(5):853-865.

Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M; Wijburg, Frits A; Freisinger, Peter; et al; Baumgartner, Matthias R (2016). Impact of age at onset and newborn screening on outcome in organic acidurias. Journal of Inherited Metabolic Disease, 39(3):341-353.

Becirovic, Elvir; Böhm, Sybille; Nguyen, Ong Nam Phuong; Riedmayr, Lisa Maria; Koch, Mirja Annika; Schulze, Elisabeth; Kohl, Susanne; Borsch, Oliver; Santos-Ferreira, Tiago; Ader, Marius; Michalakis, Stylianos; Biel, Martin (2016). In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. PLoS Genetics, 12(1):e1005811.

Pick, J L; Hutter, P; Tschirren, B (2016). In search of genetic constraints limiting the evolution of egg size: direct and correlated responses to artificial selection on a prenatal maternal effector. Heredity, 116(6):542-549.

Roos, Leonie; van Dongen, Jenny; Bell, Christopher G; Burri, Andrea; Deloukas, Panos; Boomsma, Dorret I; Spector, Tim D; Bell, Jordana T (2016). Integrative DNA methylome analysis of pan-cancer biomarkers in cancer discordant monozygotic twin-pairs. Clinical Epigenetics, 8(1):online.

Pellegrino, Stefania; Altmeyer, Matthias (2016). Interplay between Ubiquitin, SUMO, and Poly(ADP-Ribose) in the Cellular Response to Genotoxic Stress. Frontiers in Genetics:7:63.

Ferrari, Stefano; Gentili, Christian (2016). Maintaining genome stability in defiance of mitotic DNA damage. Frontiers in Genetics, 7:128.

He, Yinghong; Maier, Kristin; Leppert, Juna; Hausser, Ingrid; Schwieger-Briel, Agnes; Weibel, Lisa; Theiler, Martin; Kiritsi, Dimitra; Busch, Hauke; Boerries, Melanie; Hannula-Jouppi, Katariina; Heikkilä, Hannele; Tasanen, Kaisa; Castiglia, Daniele; Zambruno, Giovanna; Has, Cristina (2016). Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility. American Journal of Human Genetics, 99(6):1395-1404.

Ü Basmanav, F Buket; Cau, Laura; Tafazzoli, Aylar; et al; Büchner, Aline; Weibel, Lisa (2016). Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. American Journal of Human Genetics, 99(6):1292-1304.

Di Donato, Nataliya; Neuhann, Teresa; Kahlert, Anne-Karin; Klink, Barbara; Hackmann, Karl; Neuhann, Irmingard; Novotna, Barbora; Schallner, Jens; Krause, Claudia; Glass, Ian A; Parnell, Shawn E; Benet-Pages, Anna; Nissen, Anke M; Berger, Wolfgang; Altmüller, Janine; Thiele, Holger; Weber, Bernhard H F; Schrock, Evelin; Dobyns, William B; Bier, Andrea; Rump, Andreas (2016). Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics, 53(6):419-425.

Abela, Lucia; Simmons, Luke; Steindl, Katharina; Schmitt, Bernhard; Mastrangelo, Massimo; Joset, Pascal; Papuc, Mihaela; Sticht, Heinrich; Baumer, Alessandra; Crowther, Lisa M; Mathis, Déborah; Rauch, Anita; Plecko, Barbara (2016). N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease, 39(1):131-137.

Zhang, Bingbing; Yan, Jing; Umbach, Anja T; Fakhri, Hajar; Fajol, Abul; Schmidt, Sebastian; Salker, Madhuri S; Chen, Hong; Alexander, Dorothea; Spichtig, Daniela; Daryadel, Arezoo; Wagner, Carsten A; Föller, Michael; Lang, Florian (2016). NFκB-sensitive Orai1 expression in the regulation of FGF23 release. Journal of Molecular Medicine, 94(5):557-566.

Rahman, Shamima; Baumgartner, Matthias R; Morava, Eva; Patterson, Marc; Peters, Verena; Zschocke, Johannes (2016). Peer review fraud-it's not big and it's not clever. Journal of Inherited Metabolic Disease, 39(1):1-2.

Nguyen, O N Phuong; Böhm, Sybille; Gießl, Andreas; Butz, Elisabeth S; Wolfrum, Uwe; Brandstätter, Johann H; Wahl-Schott, Christian; Biel, Martin; Becirovic, Elvir (2016). Peripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptors. Human Molecular Genetics, 25(12):2367-2377.

Pires, Nuno D; Bemer, Marian; Müller, Lena M; Baroux, Célia; Spillane, Charles; Grossniklaus, Ueli (2016). Quantitative genetics identifies cryptic genetic variation involved in the paternal regulation of seed development. PLoS Genetics, 12(1):e1005806.

Engler, Anna; Tange, Clare; Frank-Bertoncelj, Mojca; Gay, Renate E; Gay, Steffen; Ospelt, Caroline (2016). Regulation and function of SIRT1 in rheumatoid arthritis synovial fibroblasts. Journal of Molecular Medicine, 94(2):173-182.

Gjoksi, Bebeka; Ghayor, Chafik; Bhattacharya, Indranil; Zenobi-Wong, Marcy; Weber, Franz E (2016). The bromodomain inhibitor N-methyl pyrrolidone reduced fat accumulation in an ovariectomized rat model. Clinical Epigenetics, 8:42.

Toll-Riera, Macarena; San Millan, Alvaro; Wagner, Andreas; MacLean, R Craig (2016). The genomic basis of evolutionary innovation in pseudomonas aeruginosa. PLoS Genetics, 12(5):e1006005.

Janecke, Andreas R; Li, Ben; Boehm, Manfred; Krabichler, Birgit; Rohrbach, Marianne; Müller, Thomas; Fuchs, Irene; Golas, Gretchen; Katagiri, Yasuhiro; Ziegler, Shira G; Gahl, William A; Wilnai, Yael; Zoppi, Nicoletta; Geller, Herbert M; Giunta, Cecilia; Slavotinek, Anne; Steinmann, Beat (2016). The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. American Journal of Medical Genetics. Part A, 170(1):103-115.

Mathis, Déborah; Abela, Lucia; Albersen, Monique; Bürer, Céline; Crowther, Lisa; Beese, Karin; Hartmann, Hans; Bok, Levinus A; Struys, Eduard; Papuc, Sorina M; Rauch, Anita; Hersberger, Martin; Verhoeven-Duif, Nanda M; Plecko, Barbara (2016). The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Journal of Inherited Metabolic Disease, 39(5):733-741.

Kölker, S; Haberle, Johannes; Walker, V (2016). Urea cycle disorders. In: Hollak, C; Lachmann, R. Inherited metabolic disease in adults. Oxford, UK: Oxford University Press, 119-126, 585.

2015

Schmidt, Wolfgang M; Rutledge, S Lane; Schüle, Rebecca; Mayerhofer, Benjamin; Züchner, Stephan; Boltshauser, Eugen; Bittner, Reginald E (2015). Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia. American Journal of Human Genetics, 97(6):855-861.

Karow, Axel; Eekels, Julia J M; Zurbriggen, Karin; Schmid, Marlis; Schmugge, Markus; Speer, Oliver (2015). Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity. Hemoglobin, 39(6):432-434.

Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; et al (2015). Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. Journal of Medical Genetics, 52(12):804-814.

Burrage, Lindsay C; Sun, Qin; Elsea, Sarah H; Jiang, Ming-Ming; Nagamani, Sandesh C S; Frankel, Arthur E; Stone, Everett; Alters, Susan E; Johnson, Dale E; Rowlinson, Scott W; Georgiou, George; Lee, Brendan H; Baumgartner, Matthias R; et al (2015). Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Human Molecular Genetics, 24(22):6417-6427.

Bohacek, Johannes; Mansuy, Isabelle M (2015). Molecular insights into transgenerational non-genetic inheritance of acquired behaviours. Nature Reviews. Genetics, 16(11):641-652.

Huemer, Martina; Kožich, Viktor; Rinaldo, Piero; Baumgartner, Matthias R; Merinero, Begoña; Pasquini, Elisabetta; Ribes, Antonia; Blom, Henk J (2015). Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. Journal of Inherited Metabolic Disease, 38(6):1007-1019.

Morava, Eva; Rahman, Shamima; Peters, Verena; Baumgartner, Matthias R; Patterson, Marc; Zschocke, Johannes (2015). Quo vadis: the re-definition of "inborn metabolic diseases". Journal of Inherited Metabolic Disease, 38(6):1003-1006.

Hu, Liyan; Ibrahim, Khalid; Stucki, Martin; Frapolli, Michele; Shahbeck, Noora; Chaudhry, Farrukh A; Görg, Boris; Häussinger, Dieter; Penberthy, W Todd; Ben-Omran, Tawfeg; Häberle, Johannes (2015). Secondary NAD(+) deficiency in the inherited defect of glutamine synthetase. Journal of Inherited Metabolic Disease, 38(6):1075-1083.

Bilgin Sonay, Tugce; Carvalho, Tiago; Robinson, Mark D; Greminger, Maja P; Krützen, Michael; Comas, David; Highnam, Gareth; Mittelman, David; Sharp, Andrew; Marques-Bonet, Tomàs; Wagner, Andreas (2015). Tandem repeat variation in human and great ape populations and its impact on gene expression divergence. Genome Research, 25(11):1591-1599.

Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; et al (2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Journal of Inherited Metabolic Disease, 38(6):1041-1057.

Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B; et al (2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Journal of Inherited Metabolic Disease, 38(6):1059-1074.

Payne, Joshua L; Wagner, Andreas (2015). Mechanisms of mutational robustness in transcriptional regulation. Frontiers in Genetics:6:322.

Dona, Margo; Bachmann-Gagescu, Ruxandra; Texier, Yves; Toedt, Grischa; Hetterschijt, Lisette; Tonnaer, Edith L; Peters, Theo A; van Beersum, Sylvia E C; Bergboer, Judith G M; Horn, Nicola; de Vrieze, Erik; Slijkerman, Ralph W N; van Reeuwijk, Jeroen; Flik, Gert; Keunen, Jan E; Ueffing, Marius; Gibson, Toby J; Roepman, Ronald; Boldt, Karsten; Kremer, Hannie; van Wijk, Erwin (2015). NINL and DZANK1 co-function in vesicle transport and are essential for photoreceptor development in Zebrafish. PLoS Genetics, 11(10):e1005574.

Buyandelger, Byambajav; Mansfield, Catherine; Kostin, Sawa; et al (2015). ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure. Circulation. Cardiovascular Genetics, 8(5):643-652.

Froese, D Sean; Michaeli, Amit; McCorvie, Thomas J; Krojer, Tobias; Sasi, Meitav; Melaev, Esther; Goldblum, Amiram; Zatsepin, Maria; Lossos, Alexander; Álvarez, Rafael; Escribá, Pablo V; Minassian, Berge A; von Delft, Frank; Kakhlon, Or; Yue, Wyatt W (2015). Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. Human Molecular Genetics, 24(20):5667-5676.

Latreille, Mathieu; Herrmanns, Karolin; Renwick, Neil; Tuschl, Thomas; Malecki, Maciej T; McCarthy, Mark I; Owen, Katharine R; Rülicke, Thomas; Stoffel, Markus (2015). miR-375 gene dosage in pancreatic β-cells: implications for regulation of β-cell mass and biomarker development. Journal of Molecular Medicine, 93(10):1159-1169.

Bachmann-Gagescu, Ruxandra; Dona, Margo; Hetterschijt, Lisette; Tonnaer, Edith; Peters, Theo; de Vrieze, Erik; Mans, Dorus A; van Beersum, Sylvia E C; Phelps, Ian G; Arts, Heleen H; Keunen, Jan E; Ueffing, Marius; Roepman, Ronald; Boldt, Karsten; Doherty, Dan; Moens, Cecilia B; Neuhauss, Stephan C F; Kremer, Hannie; van Wijk, Erwin (2015). The ciliopathy protein CC2D2A Associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking. PLoS Genetics, 11(10):e1005575.

Ruppert, T; Schumann, A; Gröne, H J; Okun, J G; Kölker, S; Morath, M A; Sauer, S W (2015). Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria. Human Molecular Genetics, 24(24):7049-7059.

Huemer, Martina; Karall, Daniela; Schossig, Anna; et al (2015). Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Journal of Inherited Metabolic Disease, 38(5):905-914.

Loveday, Chey; Tatton-Brown, Katrina; Clarke, Matthew; Westwood, Isaac; Renwick, Anthony; Ramsay, Emma; Nemeth, Andrea; Campbell, Jennifer; Joss, Shelagh; Gardner, McKinlay; Zachariou, Anna; Elliott, Anna; Ruark, Elise; van Montfort, Rob; Rahman, Nazneen (2015). Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. Human Molecular Genetics, 24(17):4775-4779.

May, Melanie; Hwang, Kyu-Seok; Miles, Judith; et al (2015). ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. Human Molecular Genetics, 24(17):4848-4861.

Heinrich, Angela; Buchmann, Arlette F; Zohsel, Katrin; Dukal, Helene; Frank, Josef; Treutlein, Jens; Nieratschker, Vanessa; Witt, Stephanie H; Brandeis, Daniel; Schmidt, Martin H; Esser, Günter; Banaschewski, Tobias; Laucht, Manfred; Rietschel, Marcella (2015). Alterations of glucocorticoid receptor gene methylation in externalizing disorders during childhood and adolescence. Behavior Genetics, 45(5):529-536.

Burda, P; Kuster, A; Hjalmarson, O; Suormala, T; Bürer, C; Lutz, S; Roussey, G; Christa, L; Asin-Cayuela, J; Kollberg, G; Andersson, B A; Watkins, D; Rosenblatt, D S; Fowler, B; Holme, E; Froese, D S; Baumgartner, M R (2015). Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. Journal of Inherited Metabolic Disease, 38(5):863-872.

Steinkellner, Hannes; Etzler, Julia; Gogoll, Laura; Neesen, Jürgen; Stifter, Eva; Brandau, Oliver; Laccone, Franco (2015). Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome. European Journal of Human Genetics, 23(9):1186-1191.

Bachmann-Gagescu, Ruxandra; Phelps, Ian G; Dempsey, Jennifer C; Sharma, Vivek A; Ishak, Gisele E; Boyle, Evan A; Wilson, Meredith; Marques Lourenço, Charles; Arslan, Mutluay; Shendure, Jay; Doherty, Dan (2015). KIAA0586 is mutated in Joubert syndrome. Human Mutation, 36(9):831-835.

Yigit, Gökhan; Brown, Karen E; Kayserili, Hülya; Pohl, Esther; Caliebe, Almuth; Zahnleiter, Diana; Rosser, Elisabeth; Bögershausen, Nina; Uyguner, Zehra Oya; Altunoglu, Umut; Nürnberg, Gudrun; Nürnberg, Peter; Rauch, Anita; Li, Yun; Thiel, Christian Thomas; Wollnik, Bernd (2015). Mutations in CDK5RAP2 cause Seckel syndrome. Molecular Genetics & Genomic Medicine, 3(5):467-480.

Bonati, Ulrike; Hafner, Patricia; Schädelin, Sabine; Schmid, Maurice; Naduvilekoot Devasia, Arjith; Schroeder, Jonas; Zuesli, Stephanie; Pohlman, Urs; Neuhaus, Cornelia; Klein, Andrea; Sinnreich, Michael; Haas, Tanja; Gloor, Monika; Bieri, Oliver; Fischmann, Arne; Fischer, Dirk (2015). Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy. Neuromuscular Disorders : NMD, 25(9):679-685.

Hu, Liyan; Pandey, Amit V; Balmer, Cécile; Eggimann, Sandra; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. Journal of Inherited Metabolic Disease, 38(5):815-827.

Bachmann-Gagescu, R; Dempsey, J C; Phelps, I G; O'Roak, B J; Knutzen, D M; Rue, T C; Ishak, G E; Isabella, C R; Gorden, N; Adkins, J; Boyle, E A; de Lacy, N; O'Day, D; Alswaid, A; Radha Ramadevi, A; Lingappa, L; Lourenço, C; Martorell, L; Garcia-Cazorla, À; Ozyürek, H; Haliloğlu, G; Tuysuz, B; Topçu, M; Chance, P; Parisi, M A; Glass, I A; Shendure, J; Doherty, D (2015). Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics, 52(8):514-522.

Martinelli, Simone; Stellacci, Emilia; Pannone, Luca; D'Agostino, Daniela; Consoli, Federica; Lissewski, Christina; Silvano, Marianna; Cencelli, Giulia; Lepri, Francesca; Maitz, Silvia; Pauli, Silke; Rauch, Anita; Zampino, Giuseppe; Selicorni, Angelo; Melançon, Serge; Digilio, Maria C; Gelb, Bruce D; De Luca, Alessandro; Dallapiccola, Bruno; Zenker, Martin; Tartaglia, Marco (2015). Molecular diversity and associated phenotypic spectrum of germline CBL mutations. Human Mutation, 36(8):787-796.

Subasic, Deni; Brümmer, Anneke; Wu, Yibo; Pinto, Sérgio Morgado; Imig, Jochen; Keller, Martin; Jovanovic, Marko; Lightfoot, Helen Louise; Nasso, Sara; Goetze, Sandra; Brunner, Erich; Hall, Jonathan; Aebersold, Ruedi; Zavolan, Mihaela; Hengartner, Michael O (2015). Cooperative target mRNA destabilization and translation inhibition by miR-58 microRNA family inC. elegans. Genome Research, 25(11):1680-1691.

Galimov, Artur; Hartung, Angelika; Trepp, Roman; Mader, Alexander; Flück, Martin; Linke, Axel; Blüher, Matthias; Christ, Emanuel; Krützfeldt, Jan (2015). Growth hormone replacement therapy regulates microRNA-29a and targets involved in insulin resistance. Journal of Molecular Medicine, 93(12):1369-1379.

Steiner, Bernhard; Masood, Rahim; Rufibach, Kaspar; Niedrist, Dunja; Kundert, Oliver; Riegel, Mariluce; Schinzel, Albert (2015). An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies. European Journal of Human Genetics, 23(4):466-472.

Rosin, Nadine; Elcioglu, Nursel H; Beleggia, Filippo; Isgüven, Pinar; Altmüller, Janine; Thiele, Holger; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Nürnberg, Peter; Wollnik, Bernd; Yigit, Gökhan (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Human Molecular Genetics, 24(13):3708-3717.

Lee, Brendan; Diaz, George A; Rhead, William; Lichter-Konecki, Uta; Feigenbaum, Annette; Berry, Susan A; Le Mons, Cindy; Bartley, James A; Longo, Nicola; Nagamani, Sandesh C; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary O; Korson, Mark S; McCandless, Shawn E; Smith, Wendy; Cederbaum, Stephen; Wong, Derek; Merritt, J Lawrence; Schulze, Andreas; Vockley, Jerry; Vockley, Gerard; Kronn, David; Zori, Roberto; Summar, Marshall; Milikien, Douglas A; Marino, Miguel; Coakley, Dion F; Mokhtarani, Masoud; Scharschmidt, Bruce F (2015). Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genetics in Medicine, 17(7):561-568.

Taramasso, Maurizio; Emmert, Maximilian Y; Reser, Diana; Guidotti, Andrea; Cesarovic, Nikola; Campagnol, Marino; Addis, Alessandro; Nietlispach, Fabian; Hoerstrup, Simon P; Maisano, Francesco (2015). Pre-clinical In Vitro and In Vivo Models for Heart Valve Therapies. Journal of Cardiovascular Translational Research, 8(5):319-327.

Gemble, Simon; Ahuja, Akshay; Buhagiar-Labarchède, Géraldine; Onclercq-Delic, Rosine; Dairou, Julien; Biard, Denis S F; Lambert, Sarah; Lopes, Massimo; Amor-Guéret, Mounira (2015). Pyrimidine Pool Disequilibrium Induced by a Cytidine Deaminase Deficiency Inhibits PARP-1 Activity, Leading to the Under Replication of DNA. PLoS Genetics, 11(7):e1005384.

Gschwind, Markus; Foletti, Giovanni; Baumer, Alessandra; Bottani, Armand; Novy, Jan (2015). Recurrent nonconvulsive status epilepticus in a patient with coffin-lowry syndrome. Molecular Syndromology, 6(2):91-95.

Hochuli, Michel; Christ, Emanuel; Meienberg, Fabian; Lehmann, Roger; Krützfeldt, Jan; Baumgartner, Matthias R (2015). Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. Journal of Inherited Metabolic Disease, 38(6):1093-1098.

Schiff, Manuel; Haberberger, Birgit; Xia, Chuanwu; Mohsen, Al-Walid; Goetzman, Eric S; Wang, Yudong; Uppala, Radha; Zhang, Yuxun; Karunanidhi, Anuradha; Prabhu, Dolly; Alharbi, Hana; Prochownik, Edward V; Haack, Tobias; Häberle, Johannes; Munnich, Arnold; Rötig, Agnes; Taylor, Robert W; Nicholls, Robert D; Kim, Jung-Ja; Prokisch, Holger; Vockley, Jerry (2015). Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Human Molecular Genetics, 24(11):3238-3247.

van der Post, Rachel S; Vogelaar, Ingrid P; Carneiro, Fátima; et al (2015). Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. Journal of Medical Genetics, 52(6):361-374.

Burda, Patricie; Schäfer, Alexandra; Suormala, Terttu; Rummel, Till; Bürer, Céline; Heuberger, Dorothea; Frapolli, Michele; Giunta, Cecilia; Sokolová, Jitka; Vlášková, Hana; Kožich, Viktor; Koch, Hans Georg; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2015). Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Human Mutation, 36(6):611-621.

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