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2020

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.

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.

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.

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.

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

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, A P (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.

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 (2019). Prognosis of Patients with Chronic and Hospital-Acquired Anaemia After Acute Coronary Syndromes. Journal of Cardiovascular Translational Research:Epub ahead of print.

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.

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.

Roccatello, 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; German Competence Network for Congenital Heart Defects and the T, ? (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.

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

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

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; Giacomo, Valeria Di; 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.

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.

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; EHOD consortium; et al (2018). 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:Epub ahead of print.

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.

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.

Ehlert, Karoline; Levade, Thierry; Di Rocco, Maja; Lanino, Edoardo; Albert, Michael H; Führer, Monika; Jarisch, Andrea; Güngör, Tayfun; Ayuk, Francis; Vormoor, Josef (2018). Allogeneic hematopoietic cell transplantation in Farber disease. Journal of Inherited Metabolic Disease:Epub ahead of print.

Kliver, Sergei; Rayko, Mike; Komissarov, Alexey; Bakin, Evgeny; Zhernakova, Daria; Prasad, Kasavajhala; Rushworth, Catherine; Baskar, R; Smetanin, Dmitry; Schmutz, Jeremy; Rokhsar, Daniel; 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; Vliet, Danique van; 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 M; 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.

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.

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; Albeiro, 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.

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.

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.

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; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmüller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M; Büttner, Reinhard; Möslein, Gabriela; Betz, Regina C; Brieger, Angela; Lifton, Richard P; Aretz, Stefan (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.

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; F Günthard, Huldrych; 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.

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.

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 (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.

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.

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.

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.

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; Ramadevi A, R; 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.

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.

Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C; Harewood, Louise; Kosmicki, Jack A; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M; Alfaiz, Ali Abdullah; van Haelst, Mieke M; Andrieux, Joris; Gusella, James F; Daly, Mark J; Beckmann, Jacques S; Jacquemont, Sébastien; Talkowski, Michael E; Katsanis, Nicholas; Reymond, Alexandre (2015). A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology. American Journal of Human Genetics, 96(5):784-796.

Elsayed, Solaf M; Phillips, Jennifer B; Heller, Raoul; Thoenes, Michaela; Elsobky, Ezzat; Nürnberg, Gudrun; Nürnberg, Peter; Seland, Saskia; Ebermann, Inga; Altmüller, Janine; Thiele, Holger; Toliat, Mohammad; Körber, Friederike; Hu, Xue-Jia; Wu, Yun-Dong; Zaki, Maha S; Abdel-Salam, Ghada; Gleeson, Joseph; Boltshauser, Eugen; Westerfield, Monte; Bolz, Hanno J (2015). Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Human Molecular Genetics, 24(9):2594-2603.

Kolanczyk, Mateusz; Krawitz, Peter; Hecht, Jochen; Hupalowska, Anna; Miaczynska, Marta; Marschner, Katrin; Schlack, Claire; Emmerich, Denise; Kobus, Karolina; Kornak, Uwe; Robinson, Peter N; Plecko, Barbara; Grangl, Gernot; Uhrig, Sabine; Mundlos, Stefan; Horn, Denise (2015). Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European Journal of Human Genetics, 23(5):720.

Schmid, Tobias; Snoek, L Basten; Fröhli, Erika; van der Bent, M Leontien; Kammenga, Jan; Hajnal, Alex (2015). Systemic regulation of RAS/MAPK signaling by the serotonin metabolite 5-HIAA. PLoS Genetics, 11(5):e1005236.

Mansour-Hendili, Lamisse; et al (2015). Mutation Update of the Clcn5 Gene Responsible for Dent Disease 1. Human Mutation:743-752.

Burri, Andrea; Lachance, Genevieve; Williams, Frances (2015). A discordant monozygotic-twin approach to potential risk factors for chronic widespread pain in females. Twin Research and Human Genetics, 18(2):188-197.

Schertel, Claus; Albarca, Monica; Rockel-Bauer, Claudia; Kelley, Nicholas W; Bischof, Johannes; Hens, Korneel; van Nimwegen, Erik; Basler, Konrad; Deplancke, Bart (2015). A large-scale, in vivo transcription factor screen defines bivalent chromatin as a key property of regulatory factors mediating Drosophila wing development. Genome Research, 25(4):514-523.

Terhal, Paulien A; Nievelstein, Rutger Jan A J; Verver, Eva J J; et al (2015). A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. American Journal of Medical Genetics. Part A, 167A(3):461-475.

Maier, Robert; Moser, Gerhard; Chen, Guo-Bo; Ripke, Stephan; Coryell, William; Potash, James B; Scheftner, William A; Shi, Jianxin; Weissman, Myrna M; Hultman, Christina M; Landén, Mikael; Levinson, Douglas F; Kendler, Kenneth S; Smoller, Jordan W; Wray, Naomi R; Lee, S Hong (2015). Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder, and major depressive disorder. American Journal of Human Genetics, 96(2):283-294.

Shakhova, Olga; Cheng, Phil; Mishra, Pravin J; Zingg, Daniel; Schaefer, Simon M; Debbache, Julien; Häusel, Jessica; Matter, Claudia; Guo, Theresa; Davis, Sean; Meltzer, Paul; Mihic-Probst, Daniela; Moch, Holger; Wegner, Michael; Merlino, Glenn; Levesque, Mitchell P; Dummer, Reinhard; Santoro, Raffaella; Cinelli, Paolo; Sommer, Lukas (2015). Antagonistic cross-regulation between Sox9 and Sox10 controls an anti-tumorigenic program in melanoma. PLoS Genetics, 11(1):e1004877.

Astudillo, Leonardo; Sabourdy, Frédérique; Therville, Nicole; Bode, Heiko; Ségui, Bruno; Andrieu-Abadie, Nathalie; Hornemann, Thorsten; Levade, Thierry (2015). Human genetic disorders of sphingolipid biosynthesis. Journal of Inherited Metabolic Disease, 38(1):65-76.

Romani, Marta; Mancini, Francesca; Micalizzi, Alessia; Poretti, Andrea; Miccinilli, Elide; et al (2015). Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human Genetics, 134(1):123-126.

Santagostino, E; Lentz, S R; Misgav, M; Brand, B; Chowdary, P; Savic, A; Kilinc, Y; Amit, Y; Amendola, A; Solimeno, L P; Saugstrup, T; Matytsina, I (2015). Safety and efficacy of turoctocog alfa (NovoEight®) during surgery in patients with haemophilia A: results from the multinational guardian™ clinical trials. Haemophilia, 21(1):34-40.

Vulto-van Silfhout, Anneke T; Nakagawa, Tadashi; Bahi-Buisson, Nadia; et al (2015). Variants in CUL4B are associated with cerebral malformations. Human Mutation, 36(1):106-117.

Lange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias K; Mueller, Franziska; Siebers-Renelt, Ulrike; Beleza-Meireles, Ana; Uyanik, Goekhan; Janssens, Sandra; Boltshauser, Eugen; Winkler, Juergen; Schuierer, Gerhard; Hehr, Ute (2015). 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet Journal of Rare Diseases, 10(134):online.

Paneni, Francesco; Costantino, Sarah; Battista, Rodolfo; Castello, Lorenzo; Capretti, Giuliana; Chiandotto, Sergio; Scavone, Giuseppe; Villano, Angelo; Pitocco, Dario; Lanza, Gaetano; Volpe, Massimo; Lüscher, Thomas F; Cosentino, Francesco (2015). Adverse Epigenetic signatures by histone methyltransferase set7 contribute to vascular dysfunction in patients with type 2 diabetes. Circulation. Cardiovascular Genetics, 8(1):150-158.

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.

Porter, Louise F; Gallego-Pinazo, Roberto; Keeling, Catherine L; Kamieniorz, Martyna; Zoppi, Nicoletta; Colombi, Marina; Giunta, Cecilia; Bonshek, Richard; Manson, Forbes D; Black, Graeme C (2015). Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. Orphanet Journal of Rare Diseases, 10(145):online.

Matharu, Navneet K; Ahanger, Sajad H (2015). Chromatin insulators and topological domains: adding new dimensions to 3D genome architecture. Genes, 6(3):790-811.

Huemer, M; Bürer, C; Ješina, P; Kožich, V; Landolt, M A; Suormala, T; Fowler, B; Augoustides-Savvopoulou, P; Blair, E; Brennerova, K; Broomfield, A; De Meirleir, L; Gökcay, G; Hennermann, J; Jardine, P; Koch, J; Lorenzl, S; Lotz-Havla, A S; Noss, J; Parini, R; Peters, H; Plecko, B; Ramos, F J; Schlune, A; Tsiakas, K; Zerjav Tansek, M; Baumgartner, M R (2015). Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data. Journal of Inherited Metabolic Disease, 38(5):957-967.

Karall, Daniela; Brunner-Krainz, Michaela; Kogelnig, Katharina; Konstantopoulou, Vassiliki; Maier, Esther M; Möslinger, Dorothea; Plecko, Barbara; Sperl, Wolfgang; Volkmar, Barbara; Scholl-Bürgi, Sabine (2015). Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). Orphanet Journal of Rare Diseases, 10(21):online.

Ahting, Uwe; Mayr, Johannes A; Vanlander, Arnaud V; Hardy, Steven A; Santra, Saikat; Makowski, Christine; Alston, Charlotte L; Zimmermann, Franz A; Abela, Lucia; Plecko, Barbara; Rohrbach, Marianne; Spranger, Stephanie; Seneca, Sara; Rolinski, Boris; Hagendorff, Angela; Hempel, Maja; Sperl, Wolfgang; Meitinger, Thomas; Smet, Joél; Taylor, Robert W; Van Coster, Rudy; Freisinger, Peter; Prokisch, Holger; Haack, Tobias B (2015). Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics:6:123.

Saudubray, Jean-Marie; Baumgartner, Matthias R; Wanders, Ronald (2015). Complex lipids. Journal of Inherited Metabolic Disease, 38(1):1.

Robinson, Mark D; Pelizzola, Mattia (2015). Computational epigenomics: challenges and opportunities. Frontiers in Genetics, 6:88.

Klein, Andrea; Robb, Stephanie; Rushing, Elisabeth; Liu, Wei-Wei; Belaya, Kasiaryna; Beeson, David (2015). Congenital Myasthenic Syndrome caused by mutations in DPAGT. Neuromuscular Disorders : NMD, 25(3):253-256.

Shepard, Peter J; Barshop, Bruce A; Baumgartner, Matthias R; Hansen, John-Bjarne; Jepsen, Kristen; Smith, Erin N; Frazer, Kelly A (2015). Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genetics in Medicine, 17(8):660-667.

Locke, Warwick J; Zotenko, Elena; Stirzaker, Clare; Robinson, Mark D; Hinshelwood, Rebecca A; Stone, Andrew; Reddel, Roger R; Huschtscha, Lily I; Clark, Susan J (2015). Coordinated epigenetic remodelling of transcriptional networks occurs during early breast carcinogenesis. Clinical Epigenetics, 7(1):52.

Popp, Bernt; Støve, Svein I; Endele, Sabine; Myklebust, Line M; Hoyer, Juliane; Sticht, Heinrich; Azzarello-Burri, Silvia; Rauch, Anita; Arnesen, Thomas; Reis, André (2015). De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. European Journal of Human Genetics, 23(5):602-609.

Takahashi, Kazuo T; Blanckenhorn, Wolf U (2015). Effect of genomic deficiencies on sexual size dimorphism through modification of developmental time in Drosophila melanogaster. Heredity, 115(2):140-145.

Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; et al; Baumgartner, Matthias R (2015). Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Journal of Inherited Metabolic Disease, 38(6):1155-1156.

Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B; et al; Baumgartner, Matthias R (2015). Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Journal of Inherited Metabolic Disease, 38(6):1157-1158.

Stoller, Fabienne; Schlegel, Andrea; Viecelli, Hiu Man; Rüfenacht, Véronique; Cesarovic, Nikola; Viecelli, Claudio; Deplazes, Sereina; Bettschart-Wolfensberger, Regula; Hurter, Karin; Schmierer, Philipp A; Sidler, Xaver; Kron, Philipp; Dutkowski, Philipp; Graf, Rolf; Thöny, Beat; Häberle, Johannes (2015). Hepatocyte transfection in small pigs after weaning by hydrodynamic intraportal injection of naked DNA/minicircle vectors. Human Gene Therapy. Methods, 26(5):181-192.

Zahnleiter, Diana; Hauer, Nadine N; Kessler, Kristin; Uebe, Steffen; Sugano, Yuya; Neuhauss, Stephan C F; Giessl, Andreas; Ekici, Arif B; Blessing, Holger; Sticht, Heinrich; Dörr, Helmuth-Günther; Reis, André; Thiel, Christian T (2015). MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation. Human Mutation, 36(1):87-97.

Carrillo, Juan D; Forasiepi, Analía; Jaramillo, Carlos; Sánchez-Villagra, Marcelo R (2015). Neotropical mammal diversity and the Great American Biotic Interchange: spatial and temporal variation in South America's fossil record. Frontiers in Genetics:5:451.

Segura, Mònica; Pedreño, Carla; Obiols, Jordi; Taurines, Regina; Pàmias, Montserrat; Grünblatt, Edna; Gella, Alejandro (2015). Neurotrophin blood-based gene expression and social cognition analysis in patients with autism spectrum disorder. Neurogenetics, 16(2):123-131.

Nassab, Mani Haschemi; Rhein, Mathias; Heese, Peter; Glahn, Alexander; Frieling, Helge; Linnebank, Michael; Bleich, Stefan; Kornhuber, Johannes; Heberlein, Annemarie; Grallert, Harald; Peters, Annette; Rawal, Rajesh; Strauch, Konstantin; Hillemacher, Thomas (2015). No association between the ALDH2 promoter polymorphism rs886205, alcohol dependence, and risky alcohol consumption in a German population. Psychiatric Genetics, 25(1):41-42.

Hornemann, Thorsten (2015). Palmitoylation and depalmitoylation defects. Journal of Inherited Metabolic Disease, 38(1):179-186.

Patterson, Marc C; Mengel, Eugen; Vanier, Marie T; Schwierin, Barbara; Muller, Audrey; Cornelisse, Peter; Pineda, Mercè; Rohrbach, Marianne (2015). Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet Journal of Rare Diseases, 10(65):online.

Siler, Ulrich; Paruzynski, Anna; Holtgreve-Grez, Heidi; Kuzmenko, Elena; Koehl, Ulrike; Renner, Eleonore D; Alhan, Canan; van de Loosdrecht, Arjan A; Schwäble, Joachim; Pfluger, Thomas; Tchinda, Joelle; Schmugge, Markus; Jauch, Anna; Naundorf, Sonja; Kühlcke, Klaus; Notheis, Gundula; Güngör, Tayfun; Kalle, Christof V; Schmidt, Manfred; Grez, Manuel; Seger, Reinhard; Reichenbach, Janine (2015). Successful combination of sequential gene therapy and rescue Allo-HSCT in two children with X-CGD - importance of timing. Current Gene Therapy, 15(4):416-427.

Lindert, Uschi; Kraenzlin, Marius; Campos-Xavier, Ana Belinda; Baumgartner, Matthias R; Bonafé, Luisa; Giunta, Cecilia; Rohrbach, Marianne (2015). Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta. Orphanet Journal of Rare Diseases, 10(104):online.

2014

IMAGE Consortium; et al; Smith, Taylor F (2014). Angiogenic, neurotrophic, and inflammatory system SNPs moderate the association between birth weight and ADHD symptom severity. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 165B(8):691-704.

Forny, Patrick; Froese, D Sean; Suormala, Terttu; Yue, Wyatt W; Baumgartner, Matthias R (2014). Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl-CoA Mutase (MUT) Deficiency. Human Mutation, 35(12):1449-1458.

Bardelli, Silvana; Moccetti, Marco; Tallone, Tiziano; Barile, Lucio; Cervio, Elisabetta; Radrizzani, Marina; Turchetto, Lucia; Soncin, Sabrina; Lo Cicero, Viviana; Bolis, Sara; Andriolo, Gabriella; Sürder, Daniel; Vassalli, Giuseppe; Leri, Annarosa; Anversa, Piero; Moccetti, Tiziano (2014). Highlights from the 2014 Lugano Stem Cell Meeting. Journal of Cardiovascular Translational Research, 7(6):821-822.

Palomares, O; Martín-Fontecha, M; Lauener, R; Traidl-Hoffmann, C; Cavkaytar, O; Akdis, M; Akdis, C A (2014). Regulatory T cells and immune regulation of allergic diseases: Roles of IL-10 and TGF-β. Genes and immunity, 15(8):511-520.

Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer, Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet Journal of Rare Diseases, 9:176.

Huemer, Martina; Scholl-Bürgi, Sabine; Hadaya, Karine; Kern, Ilse; Beer, Ronny; Seppi, Klaus; Fowler, Brian; Baumgartner, Matthias R; Karall, Daniela (2014). Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy. Orphanet Journal of Rare Diseases, 9:161.

Bülow, Luzie; Lissewski, Christina; Bressel, Rainer; Rauch, Anita; Stark, Zornitza; Zenker, Martin; Bartsch, Oliver (2014). Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. American Journal of Medical Genetics. Part A, 167(2):394-399.

Zeltner, Nina A; Huemer, Martina; Baumgartner, Matthias R; Landolt, Markus A (2014). Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism ¿ a systematic review. Orphanet Journal of Rare Diseases, 9(1):159.

Sirisi, Sònia; Folgueira, Mónica; López-Hernández, Tania; Minieri, Laura; Pérez-Rius, Carla; Gaitán-Peñas, Héctor; Zang, Jingjing; Martínez, Albert; Capdevila-Nortes, Xavier; De La Villa, Pedro; Roy, Upasana; Alia, A; Neuhauss, Stephan; Ferroni, Stefano; Nunes, Virginia; Estévez, Raúl; Barrallo-Gimeno, Alejandro (2014). Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans. Human Molecular Genetics, 23(19):5069-5086.

Skorobogata, Olga; Escobar-Restrepo, Juan M; Rocheleau, Christian E (2014). An AGEF-1/Arf GTPase/AP-1 ensemble antagonizes LET-23 EGFR basolateral localization and signaling during C. elegans vulva induction. PLoS Genetics, 10(10):e1004728.

Corpet, Armelle; Stucki, Manuel (2014). Chromatin maintenance and dynamics in senescence: a spotlight on SAHF formation and the epigenome of senescent cells. Chromosoma, 123(5):423-436.

Asadollahi, Reza; Oneda, Beatrice; Joset, Pascal; Azzarello-Burri, Silvia; Bartholdi, Deborah; Steindl, Katharina; Vincent, Marie; Cobilanschi, Joana; Sticht, Heinrich; Baldinger, Rosa; Reissmann, Regina; Sudholt, Irene; Thiel, Christian T; Ekici, Arif B; Reis, André; Bijlsma, Emilia K; Andrieux, Joris; Dieux, Anne; FitzPatrick, David; Ritter, Susanne; Baumer, Alessandra; Latal, Beatrice; Plecko, Barbara; Jenni, Oskar G; Rauch, Anita (2014). The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51(10):677-688.

Jusufi, Jehona; Suormala, Terttu; Burda, Patricie; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2014). Characterization of functional domains of the cblD (MMADHC) gene product. Journal of Inherited Metabolic Disease, 37(5):841-849.

Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, Diego; Martins, Esmeralda G; Schwab, Karl O; Gruenert, Sarah C; Schwahn, Bernd C; Sztriha, László; Tomaske, Maren; Trefz, Friedrich; Vilarinho, Laura; Rosenblatt, David S; Fowler, Brian; Dionisi-Vici, Carlo (2014). Clinical presentation and outcome in a series of 88 patients with the cblC defect. Journal of Inherited Metabolic Disease, 37(5):831-840.

Sousa, Sérgio B; Hennekam, Raoul C (2014). Phenotype and genotype in Nicolaides-Baraitser syndrome. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 166(3):302-314.

Baumgartner, Matthias R; Hörster, Friederike; Dionisi-Vici, Carlo; et al; Huemer, Martina; Hochuli, Michel; Fowler, Brian; Sass, Jörn (2014). Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases, 9(130):online.

Mayorandan, Sebene; Meyer, Uta; et al; Dionisi-Vici, Carlo (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet Journal of Rare Diseases, 9(1):107.

Reuter, Miriam S; Sass, Jörn Oliver; Leis, Thomas; Köhler, Julia; Mayr, Johannes A; Feichtinger, René G; Rauh, Manfred; Schanze, Ina; Bähr, Luzy; Trollmann, Regina; Uebe, Steffen; Ekici, Arif B; Reis, André (2014). HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. American Journal of Medical Genetics. Part A, 164(12):3162-3169.

Schweizer, Riccardo; Kamat, Pranitha; Schweizer, Dennis; Dennler, Cyrill; Zhang, Shengye; Schnider, Jonas T; Salemi, Souzan; Giovanoli, Pietro; Eberli, Daniel; Enzmann, Volker; Erni, Dominique; Plock, Jan A (2014). Bone marrow-derived mesenchymal stromal cells improve vascular regeneration and reduce leukocyte-endothelium activation in critical ischemic murine skin in a dose-dependent manner. Cytotherapy, 16(10):1465-1469.

Vayena, Effy; Ineichen, Christian; Stoupka, E; Hafen, Ernst (2014). Playing a part in research? University students' attitudes to direct-to-consumer genomics. Public Health Genomics, 17:158-168.

Poretti, Andrea; Boltshauser, Eugen; Doherty, Dan (2014). Cerebellar hypoplasia: differential diagnosis and diagnostic approach. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 166C(2):211-226.

Thorwarth, Anne; Schnittert-Hübener, Sarah; Schrumpf, Pamela; Müller, Ines; Jyrch, Sabine; Dame, Christof; Biebermann, Heike; Kleinau, Gunnar; Katchanov, Juri; Schuelke, Markus; Ebert, Grit; Steininger, Anne; Bönnemann, Carsten; Brockmann, Knut; Christen, Hans-Jürgen; Crock, Patricia; deZegher, Francis; Griese, Matthias; Hewitt, Jacqueline; Ivarsson, Sten; Hübner, Christoph; Kapelari, Klaus; Plecko, Barbara; Rating, Dietz; Stoeva, Iva; Ropers, Hans-Hilger; Grüters, Annette; Ullmann, Reinhard; Krude, Heiko (2014). Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum. Journal of Medical Genetics, 51(6):375-387.

Oneda, Beatrice; Baldinger, Rosa; Reissmann, Regina; Reshetnikova, Irina; Krejci, Pavel; Masood, Rahim; Ochsenbein-Kölble, Nicole; Bartholdi, Deborah; Steindl, Katharina; Morotti, Denise; Faranda, Marzia; Baumer, Alessandra; Asadollahi, Reza; Joset, Pascal; Niedrist, Dunja; Breymann, Christian; Hebisch, Gundula; Hüsler, Margaret; Mueller, René; Prentl, Elke; Wisser, Josef; Zimmermann, Roland; Rauch, Anita (2014). High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. Prenatal Diagnosis, 34(6):525-533.

Moradigaravand, Danesh; Kouyos, Roger; Hinkley, Trevor; Haddad, Mojgan; Petropoulos, Christos J; Engelstädter, Jan; Bonhoeffer, Sebastian (2014). Recombination accelerates adaptation on a large-scale empirical fitness landscape in HIV-1. PLoS Genetics, 10(6):e1004439.

Schmidt, Anja; Schmid, Marc W; Klostermeier, Ulrich C; Qi, Weihong; Guthörl, Daniela; Sailer, Christian; Waller, Manuel; Rosenstiel, Philip; Grossniklaus, Ueli (2014). Apomictic and sexual germline development differ with respect to cell cycle, transcriptional, hormonal and epigenetic regulation. PLoS Genetics, 10(7):e1004476.

Setta-Kaffetzi, Niovi; Simpson, Michael A; Navarini, Alexander A; Patel, Varsha M; Lu, Hui-Chun; Allen, Michael H; Duckworth, Michael; Bachelez, Hervé; Burden, A David; Choon, Siew-Eng; Griffiths, Christopher E M; Kirby, Brian; Kolios, Antonios; Seyger, Marieke M B; Prins, Christa; Smahi, Asma; Trembath, Richard C; Fraternali, Franca; Smith, Catherine H; Barker, Jonathan N; Capon, Francesca (2014). AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. American Journal of Human Genetics, 94(5):790-797.

Vulto-van Silfhout, Anneke T; Rajamanickam, Shivakumar; Jensik, Philip J; Vergult, Sarah; de Rocker, Nina; Newhall, Kathryn J; Raghavan, Ramya; Reardon, Sara N; Jarrett, Kelsey; McIntyre, Tara; Bulinski, Joseph; Ownby, Stacy L; Huggenvik, Jodi I; McKnight, G Stanley; Rose, Gregory M; Cai, Xiang; Willaert, Andy; Zweier, Christiane; Endele, Sabine; de Ligt, Joep; van Bon, Bregje W M; Lugtenberg, Dorien; de Vries, Petra F; Veltman, Joris A; van Bokhoven, Hans; Brunner, Han G; Rauch, Anita; de Brouwer, Arjan P M; Carvill, Gemma L; Hoischen, Alexander; Mefford, Heather C; Eichler, Evan E; Vissers, Lisenka E L M; Menten, Björn; Collard, Michael W; de Vries, Bert B A (2014). Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics, 94(5):649-661.

Bartholdi, Deborah; Stray-Pedersen, Asbjørg; Azzarello-Burri, Silvia; Kibaek, Maria; Kirchhoff, Maria; Oneda, Beatrice; Rødningen, Olaug; Schmitt-Mechelke, Thomas; Rauch, Anita; Kjaergaard, Susanne (2014). A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. American Journal of Medical Genetics. Part A, 164A(5):1277-1283.

Haag, Andrea; Gutierrez, Peter; Bühler, Alessandra; Walser, Michael; Yang, Qiutan; Langouët, Maeva; Kradolfer, David; Fröhli, Erika; Herrmann, Christina J; Hajnal, Alex; Escobar-Restrepo, Juan M (2014). An in vivo EGF receptor localization screen in C. elegans Identifies the Ezrin homolog ERM-1 as a temporal regulator of signaling. PLoS Genetics, 10(5):e1004341.

Schwanke, Kristin; Merkert, Sylvia; Kempf, Henning; Hartung, Susann; Jara-Avaca, Monica; Templin, Christian; Göhring, Gudrun; Haverich, Axel; Martin, Ulrich; Zweigerdt, Robert (2014). Fast and efficient multitransgenic modification of human pluripotent stem cells. Human Gene Therapy. Methods, 25(2):136-153.

Fukao, Toshiyuki; Mitchell, Grant; Sass, Jörn Oliver; Hori, Tomohiro; Orii, Kenji; Aoyama, Yuka (2014). Ketone body metabolism and its defects. Journal of Inherited Metabolic Disease, 37(4):541-551.

De Bleecker, Jan L; De Paepe, Boel; Aronica, Eleonora; de Visser, Marianne; Amato, Anthony; Aronica, Eleonora; Benveniste, Olivier; De Bleecker, Jan; de Boer, Onno; De Paepe, Boel; de Visser, Marianne; Dimachkie, Mazen; Gherardi, Romain; Goebel, Hans Hilmar; Hilton-Jones, David; Holton, Janice; Lundberg, Ingrid E; Mammen, Andrew; Mastaglia, Frank; Nishino, Ichizo; Rushing, Elisabeth; Daa Schroder, Henrik; Selcen, Duygu; Stenzel, Werner (2014). 205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands. In: 205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30, Naarden, The Netherlands, 28 March 2014 - 30 March 2014, 268-272.

Scholz, Claus-Jürgen; Jungwirth, Susanne; Danielczyk, Walter; Weber, Heike; Wichart, Ildiko; Tragl, Karl Heinz; Fischer, Peter; Riederer, Peter; Deckert, Jürgen; Grünblatt, Edna (2014). Investigation of association of serotonin transporter and monoamine oxidase-A genes with Alzheimer's disease and depression in the VITA study cohort: a 90-month longitudinal study. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 165B(2):184-191.

Seehausen, Ole; Butlin, Roger K; Keller, Irene; Wagner, Catherine E; Boughman, Janette W; Hohenlohe, Paul A; Peichel, Catherine L; Saetre, Glenn-Peter; Bank, Claudia; Brännström, Ake; Brelsford, Alan; Clarkson, Chris S; Eroukhmanoff, Fabrice; Feder, Jeffrey L; Fischer, Martin C; Foote, Andrew D; Franchini, Paolo; Jiggins, Chris D; Jones, Felicity C; Lindholm, Anna K; Lucek, Kay; Maan, Martine E; Marques, David A; Martin, Simon H; Matthews, Blake; Meier, Joana I; Möst, Markus; Nachman, Michael W; Nonaka, Etsuko; Rennison, Diana J; Schwarzer, Julia; Watson, Eric T; Westram, Anja M; Widmer, Alex (2014). Genomics and the origin of species. Nature Reviews. Genetics, 15(3):176-192.

Damotte, V; Guillot-Noel, L; Patsopoulos, N A; Madireddy, L; El Behi, M; De Jager, P L; Baranzini, S E; Cournu-Rebeix, I; Fontaine, B; Martin, R (2014). A gene pathway analysis highlights the role of cellular adhesion molecules in multiple sclerosis susceptibility. Genes and immunity, 15(2):126-132.

Tuz, Karina; Bachmann-Gagescu, Ruxandra; O'Day, Diana R; Hua, Kiet; Isabella, Christine R; Phelps, Ian G; Stolarski, Allan E; O'Roak, Brian J; Dempsey, Jennifer C; Lourenco, Charles; Alswaid, Abdulrahman; Bönnemann, Carsten G; Medne, Livija; Nampoothiri, Sheela; Stark, Zornitza; Leventer, Richard J; Topçu, Meral; Cansu, Ali; Jagadeesh, Sujatha; Done, Stephen; Ishak, Gisele E; Glass, Ian A; Shendure, Jay; Neuhauss, Stephan C F; Haldeman-Englert, Chad R; Doherty, Dan; Ferland, Russell J (2014). Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 94(1):62-72.

Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; Santer, René; Spiekerkoetter, Ute; Staufner, Christian; Stricker, Tamar; Wijburg, Frits A; Williams, Monique; Burgard, Peter; Häberle, Johannes (2014). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of Inherited Metabolic Disease, 37(1):21-30.

Mazza, Edoardo; Parra-Saavedra, Miguel; Bajka, Michael; Gratacos, Eduard; Nicolaides, Kypros; Deprest, Jan (2014). In vivo assessment of the biomechanical properties of the uterine cervix in pregnancy. Prenatal Diagnosis, 34(1):33-41.

Balmer, Cécile; Pandey, Amit V; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Fang, Ping; Wong, Lee-Jun; Häberle, Johannes (2014). Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Human Mutation, 35(1):27-35.

Dominietto, Marco; Rudin, Markus (2014). Could magnetic resonance provide in vivo histology? Frontiers in Genetics:4:298.

Raggi, Claudia; Luciani, Alessandro; Nevo, Nathalie; Antignac, Corinne; Terryn, Sara; Devuyst, Olivier (2014). Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis. Human Molecular Genetics, 23(9):2266-2278.

Douzgou, S; Clayton-Smith, J; Gardner, S; Day, R; Griffiths, P; Strong, K; Amiel, J; Baraitser, M; Brueton, L; Brunner, H; Chrzanowska, K; Dallapiccola, B; Del Campo Casanelles, M; Devriendt, K; Donnai, D; Fitzpatrick, D; Gillessen-Kaesbach, G; Houge, G; Kerr, B; Krajewska-Walasek, M; Lacombe, D; Meinecke, P; Metcalfe, K; Mortier, G; Odent, S; Philip, N; Prescott, T; Raas-Rothschild, A; Rauch, A; Rittinger, O; Salonen, R; Schrander-Stumpel, C; Suri, M; Temple, K; Tolmie, J; Van Der Burgt, I; Verloes, A; Wieczorek, D; Zenker, M (2014). Dysmorphology at a distance: results of a web-based diagnostic service. European Journal of Human Genetics, 22(3):327-332.

Bicker, Anne; Dietrich, Dimo; Gleixner, Eva; Kristiansen, Glen; Gorr, Thomas A; Hankeln, Thomas (2014). Extensive transcriptional complexity during hypoxia-regulated expression of the myoglobin gene in cancer. Human Molecular Genetics, 23(2):479-490.

Meissner, Barbara; Bourquin, Jean-Pierre; et al (2014). Frequent and sex-biased deletion of SLX4IP by illegitimate V(D)J-mediated recombination in childhood acute lymphoblastic leukemia. Human Molecular Genetics, 23(3):590-601.

Kaufmann, Kerstin B; Chiriaco, Maria; Siler, Ulrich; Finocchi, Andrea; Reichenbach, Janine; Stein, Stefan; Grez, Manuel (2014). Gene therapy for chronic granulomatous disease: current status and future perspectives. Current Gene Therapy, 14(6):447-60.

Becker, Jessica; Czamara, Darina; Scerri, Tom S; Ramus, Franck; Csépe, Valéria; Talcott, Joel B; Stein, John; Morris, Andrew; Ludwig, Kerstin U; Hoffmann, Per; Honbolygó, Ferenc; Tóth, Dénes; Fauchereau, Fabien; Bogliotti, Caroline; Iannuzzi, Stéphanie; Chaix, Yves; Valdois, Sylviane; Billard, Catherine; George, Florence; Soares-Boucaud, Isabelle; Gérard, Christophe-Loïc; van der Mark, Sanne; Schulz, Enrico; Vaessen, Anniek; Maurer, Urs; Lohvansuu, Kaisa; Lyytinen, Heikki; Zucchelli, Marco; Brandeis, Daniel; Blomert, Leo; Leppänen, Paavo Ht; Bruder, Jennifer; Monaco, Anthony P; Müller-Myhsok, Bertram; Kere, Juha; Landerl, Karin; Nöthen, Markus M; Schulte-Körne, Gerd; Paracchini, Silvia; Peyrard-Janvid, Myriam; Schumacher, Johannes (2014). Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort. European Journal of Human Genetics, 22(5):675-680.

Gilardi, Federica; Migliavacca, Eugenia; Naldi, Aurélien; Baruchet, Michaël; Canella, Donatella; Le Martelot, Gwendal; Guex, Nicolas; Desvergne, Béatrice (2014). Genome-Wide Analysis of SREBP1 Activity around the Clock Reveals Its Combined Dependency on Nutrient and Circadian Signals. PLoS Genetics, 10(3):e1004155.

Riegel, Mariluce; Moreira, Lilia M; Espirito Santo, Layla D; Toralles, Maria B P; Schinzel, Albert (2014). Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype. Molecular Cytogenetics, 7:77.

Grossen, Christine; Keller, Lukas F; Biebach, Iris; The International Goat Genome Consortium; Croll, Daniel (2014). Introgression from Domestic Goat Generated Variation at the Major Histocompatibility Complex of Alpine Ibex. PLoS Genetics, 10(6):e1004438.

Gonzalez, A; Schmitter, K; Hirsch, H H; Garzoni, C; van Delden, C; Boggian, K; Mueller, N J; Berger, C; Villard, J; Manuel, O; Meylan, P; Stern, M; Hess, C (2014). KIR-associated protection from CMV replication requires pre-existing immunity: a prospective study in solid organ transplant recipients. Genes and immunity, 15(7):495-499.

Pecci, A; Klersy, C; Gresele, P; Lee, K J; De Rocco, D; Bozzi, V; Russo, G; Heller, P G; Loffredo, G; Ballmeier, M; Fabris, F; Beggiato, E; Kahr, W H; Pujol-Moix, N; Platokouki, H; Van Geet, C; Noris, P; Yerram, P; Hermans, C; Gerber, B; Economou, M; De Groot, M; Zieger, B; De Candia, E; Fraticelli, V; Kersseboom, R; Piccoli, G C; Zimmermann, S; Fierro, T; Glembotsky, A C; Vianello, F; Zaninetti, C; Nicchia, E; Güthner, C; Baronci, C; Seri, M; Knight, P J; Balduini, C I; Savoia, A (2014). MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Human Mutation, 35(2):236-247.

Glöckle, Nicola; Kohl, Susanne; Mohr, Julia; Scheurenbrand, Tim; Sprecher, Andrea; Weisschuh, Nicole; Bernd, Antje; Rudolph, Günther; Schubach, Max; Poloschek, Charlotte M; Zrenner, Eberhart; Biskup, Saskia; Berger, Wolfgang; Wissinger, Bernd; Neidhardt, John (2014). Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European Journal of Human Genetics, 22(1):99-104.

Bonhoure, N; Bounova, G; Bernasconi, D; Praz, V; Lammers, F; Canella, D; Willis, I M; Herr, W; Hernandez, N; Delorenzi, M; Hernandez, N; Delorenzi, M; Deplancke, B; Desvergne, B; Guex, N; Herr, W; Naef, F; Rougemont, J; Schibler, U; Andersin, T; Cousin, P; Gilardi, F; Gos, P; Lammers, F; Raghav, S; Villeneuve, D; Fabbretti, R; Vlegel, V; Xenarios, I; Migliavacca, E; Praz, V; David, F; Jarosz, Y; Kuznetsov, D; Liechti, R; Martin, O; Delafontaine, J; Cajan, J; Gustafson, K; Krier, I; Leleu, M; Molina, N; Naldi, A; Rib, L; Symul, L; Bounova, G (2014). Quantifying ChIP-seq data: a spiking method providing an internal reference for sample-to-sample normalization. Genome Research, 24(7):1157-1168.

Frantz, A C; et al (2014). Revisiting the phylogeography and demography of European badgers (Meles meles) based on broad sampling, multiple markers and simulations. Heredity, 113(5):443-453.

Engler, Anna; Niederer, Fabienne; Klein, Kerstin; Gay, Renate E; Kyburz, Diego; Camici, Giovanni G; Gay, Steffen; Ospelt, Caroline (2014). SIRT6 regulates the cigarette smoke-induced signalling in rheumatoid arthritis synovial fibroblasts. Journal of Molecular Medicine, 92(7):757-767.

Robinson, Mark D; Kahraman, Abdullah; Law, Charity W; Lindsay, Helen; Nowicka, Malgorzata; Weber, Lukas M; Zhou, Xiaobei (2014). Statistical methods for detecting differentially methylated loci and regions. Frontiers in Genetics:5:324.

Urban, Evelin; Nagarkar-Jaiswal, Sonal; Lehner, Christian F; Heidmann, Stefan K (2014). The cohesin subunit Rad21 is required for synaptonemal complex maintenance, but not sister chromatid cohesion, during Drosophila female meiosis. PLoS Genetics, 10(8):e1004540.

Ballantyne, Kaye N; Ralf, Arwin; Burri, Helen; Haas, Cordula (2014). Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats. Human Mutation, 35(8):1021-1032.

2013

Fofou-Caillierez, Ma'atem B; Mrabet, Nadir T; Chéry, Céline; Dreumont, Natacha; Flayac, Justine; Pupavac, Mihaela; Paoli, Justine; Alberto, Jean-Marc; Coelho, David; Camadro, Jean-Michel; Feillet, François; Watkins, David; Fowler, Brian; Rosenblatt, David S; Guéant, Jean-Louis (2013). Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. Human Molecular Genetics, 22(22):4591-4601.

Eberhard, Ralf; Stergiou, Lilli; Hofmann, E Randal; Hofmann, Jen; Haenni, Simon; Teo, Youjin; Furger, André; Hengartner, Michael O (2013). Ribosome synthesis and MAPK activity modulate ionizing radiation-induced germ cell apoptosis in Caenorhabditis elegans. PLoS Genetics, 9(11):e1003943.

Hansen, Jörg; Mohr, Julia; Bürki, Sarah; Lemke, Johannes R (2013). A case of cohesinopathy with a novel de-novo SMC1A splice site mutation. Clinical Dysmorphology, 22(4):143-145.

Lentz, S R; Misgav, M; Ozelo, M; Salek, S Z; Veljkovic, D; Recht, M; Cerquira, M; Tiede, A; Brand, B; Mancuso, M E; Seremetis, S; Lindblom, A; Martinovic, U (2013). Results from a large multinational clinical trial (guardian™1) using prophylactic treatment with turoctocog alfa in adolescent and adult patients with severe haemophilia A: safety and efficacy. Haemophilia, 19(5):691-697.

Buschmann, Johanna; Gao, Shuping; Härter, Luc; Hemmi, Sonja; Welti, Manfred; Werner, Clement M L; Calcagni, Maurizio; Cinelli, Paolo; Wanner, Guido A (2013). Yield and proliferation rate of adipose-derived stromal cells as a function of age, body mass index and harvest site-increasing the yield by use of adherent and supernatant fractions? Cytotherapy, 15(9):1098-1105.

Vayena, Effy; Tasioulas, John (2013). Genetic incidental findings: autonomy regained? Genetics in Medicine, 15(11):868-870.

Balasubramanian, Meena; Parker, Michael J; Dalton, Ann; Giunta, Cecilia; Lindert, Uschi; Peres, Luiz C; Wagner, Bart E; Arundel, Paul; Offiah, Amaka; Bishop, Nicholas J (2013). Genotype-phenotype study in type V osteogenesis imperfecta. Clinical Dysmorphology, 22(3):93-101.

Zwerger, Monika; Jaalouk, Diana E; Lombardi, Maria L; Isermann, Philipp; Mauermann, Monika; Dialynas, George; Herrmann, Harald; Wallrath, Lori L; Lammerding, Jan (2013). Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. Human Molecular Genetics, 22(12):2335-2349.

Brendel, C; Hänseler, Walther; Wohlgensinger, Vital; Bianchi, Matteo; Tokmak, Serap; Reichenbach, J; Seger, R; Siler, Ulrich (2013). Human miR223 promoter as a novel myelo-specific promoter for chronic granulomatous disease gene therapy. Human Gene Therapy. Methods, 24(3):151-159.

Arnold, Phil; Schöler, Anne; Pachkov, Mikhail; Balwierz, Piotr J; Jørgensen, Helle; Stadler, Michael B; van Nimwegen, Erik; Schübeler, Dirk (2013). Modeling of epigenome dynamics identifies transcription factors that mediate Polycomb targeting. Genome Research, 23:60-73.

Lane, J; et al; Brand, B (2013). A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A. Human Molecular Genetics, 22(9):1903-1910.

Burkitt Wright, Emma M M; Porter, Louise F; Spencer, Helen L; Clayton-Smith, Jill; Au, Leon; Munier, Francis L; Smithson, Sarah; Suri, Mohnish; Rohrbach, Marianne; Manson, Forbes D C; Black, Graeme C M (2013). Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet Journal of Rare Diseases, 8:68.

Virgintino, D; Errede, M; Girolamo, F; Strippoli, M; Wälchli, T; Robertson, D; Frei, K; Roncali, L (2013). The CXCL12/CXCR4/CXCR7 ligand-receptor system regulates neuro-glio-vascular interactions and vessel growth during human brain development. Journal of Inherited Metabolic Disease, 36(3):455-466.

Sutter, Andreas; Beysard, Mathias; Heckel, Gerald (2013). Sex-specific clines support incipient speciation in a common European mammal. Heredity, 110(4):398-404.

Hotz, Hansjürg; Beerli, Peter; Uzzell, Thomas; Guex, Gaston-Denis; Pruvost, Nicolas B M; Schreiber, Robert; Plötner, Jörg (2013). Balancing a cline by influx of migrants: a genetic transition in water frogs of Eastern Greece. Journal of Heredity, 104(1):57-71.

Mayer, Karin; Kennerknecht, Ingo; Steinmann, Beat (2013). Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012. European Journal of Human Genetics, 21:118.

Wortmann, Saskia B; Kluijtmans, Leo A J; Rodenburg, Richard J; Sass, Jörn Oliver; Nouws, Jessica; van Kaauwen, Edwin P; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; de Vries, Maaike C; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S; Smuts, Izelle; Reinecke, Carolus J; van der Westhuizen, Francois H; Thorburn, David; Smeitink, Jan A M; Morava, Eva; Wevers, Ron A (2013). 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. Journal of Inherited Metabolic Disease, 36(6):913-921.

Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstätt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpass, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O; Krajewska-Walasek, Malgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Kuechler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Mathieu Dramard, Michèle; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Ozkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Utine, G Eda; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nürnberg, Peter; Rahmann, Sven; Vermeesch, Joris; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wollnik, Bernd (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22(25):5121-5135.

Harris, Melissa L; Buac, Kristina; Shakhova, Olga; Hakami, Ramin M; Wegner, Michael; Sommer, Lukas; Pavan, William J (2013). A dual role for Sox10 in the maintenance of the postnatal melanocyte lineage and the differentiation of melanocyte stem cell progenitors. PLoS Genetics, 9(7):e1003644.

Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wieczorek, Dagmar (2013). A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype. Journal of Medical Genetics, 50(12):838-847.

Shafqat, Naeem; Kavanagh, Kate L; Sass, Jörn Oliver; Christensen, Ernst; Fukao, Toshiyuki; Lee, Wen Hwa; Oppermann, Udo; Yue, Wyatt W (2013). A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Journal of Inherited Metabolic Disease, 36(6):983-987.

Yu, Hung-Chun; Sloan, Jennifer L; Scharer, Gunter; Brebner, Alison; Quintana, Anita M; Achilly, Nathan P; Manoli, Irini; Coughlin, Curtis R; Geiger, Elizabeth A; Schneck, Una; Watkins, David; Suormala, Terttu; Van Hove, Johan L K; Fowler, Brian; Baumgartner, Matthias R; Rosenblatt, David S; Venditti, Charles P; Shaikh, Tamim H (2013). An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. American Journal of Human Genetics, 93(3):506-514.

Vulto-van Silfhout, Anneke T; van Ravenswaaij, Conny M A; Hehir-Kwa, Jayne Y; Verwiel, Eugène T P; Dirks, Rita; van Vooren, Steven; Schinzel, Albert; de Vries, Bert B A; de Leeuw, Nicole (2013). An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. European Journal of Medical Genetics, 56(9):471-474.

Mota, Nina R; Bau, Claiton H D; Banaschewski, Tobias; Buitelaar, Jan K; Ebstein, Richard P; Franke, Barbara; Gill, Michael; Kuntsi, Jonna; Manor, Iris; Miranda, Ana; Mulas, Fernando; Oades, Robert D; Roeyers, Herbert; Rothenberger, Aribert; Sergeant, Joseph A; Sonuga-Barke, Edmund J; Steinhausen, Hans-Christoph; Faraone, Stephen V; Asherson, Philip (2013). Association between DRD2/DRD4 interaction and conduct disorder: a potential developmental pathway to alcohol dependence. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 162(6):546-549.

Asadollahi, Reza; Asadollahi, Hamid (2013). Avicenna's view on medical genetics. Genetics in Medicine, 15(5):410-411.

Badir, Sabrina; Mazza, Edoardo; Zimmermann, Roland; Bajka, Michael (2013). Cervical softening occurs early in pregnancy: characterization of cervical stiffness in 100 healthy women using the aspiration technique. Prenatal Diagnosis, 33(8):737-741.

Gerth-Kahlert, C; Williamson, K; Ansari, M; Rainger, J K; Hingst, V; Zimmermann, T; Tech, S; Guthoff, R F; van Heyningen, V; FitzPatrick, D R (2013). Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Molecular Genetics & Genomic Medicine, 1(1):15-31.

Uchiyama, Satoshi; Andreoni, Federica; Zürcher, Claudia; Schilcher, Katrin; Ender, Miriam; Madon, Jerzy; Matt, Ulrich; Ghosh, Partho; Nizet, Victor; Schuepbach, Reto A; Zinkernagel, Annelies S (2013). Coiled-coil irregularities of the M1 protein structure promote M1-fibrinogen interaction and influence group A Streptococcus host cell interactions and virulence. Journal of Molecular Medicine, 91(7):861-869.

Maggi, L; Scoto, M; Cirak, S; Robb, S A; Klein, A; Lillis, S; Cullup, T; Feng, L; Manzur, A Y; Sewry, C A; Abbs, S; Jungbluth, H; Muntoni, F (2013). Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscular Disorders : NMD, 23(3):195-205.

Dobrinas, Maria; Crettol, Séverine; Oneda, Beatrice; Lahyani, Rachel; Rotger, Margalida; Choong, Eva; Lubomirov, Rubin; Csajka, Chantal; Eap, Chin B (2013). Contribution of CYP2B6 alleles in explaining extreme (S)-methadone plasma levels: a CYP2B6 gene resequencing study. Pharmacogenetics and Genomics, 23(2):84-93.

Ferretti, Lorenza P; Lafranchi, Lorenzo; Sartori, Alessandro A (2013). Controlling DNA-end resection: a new task for CDKs. Frontiers in Genetics, 4:99.

Klein, Andrea; Pitt, Matthew C; McHugh, John C; Niks, Erik H; Sewry, Caroline A; Phadke, Rahul; Feng, Lucy; Manzur, Adnan Y; Tirupathi, Sandya; Devile, Catherine; Jayawant, Sandeep; Finlayson, Sarah; Palace, Jacqueline; Muntoni, Francesco; Beeson, David; Robb, Stephanie A (2013). DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children. Neuromuscular Disorders : NMD, 23(11):883-891.

Gregor, Anne; Oti, Martin; Kouwenhoven, Evelyn N; Hoyer, Juliane; Sticht, Heinrich; Ekici, Arif B; Kjaergaard, Susanne; Rauch, Anita; Stunnenberg, Hendrik G; Uebe, Steffen; Vasileiou, Georgia; Reis, André; Zhou, Huiqing; Zweier, Christiane (2013). De novo mutations in the genome organizer CTCF cause intellectual disability. American Journal of Human Genetics, 93(1):124-131.

Hendriksz, Christian J; Giugliani, Roberto; Harmatz, Paul; Lampe, Christina; Martins, Ana Maria; Pastores, Gregory M; Steiner, Robert D; Leão Teles, Elisa; Valayannopoulos, Vassili (2013). Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). Journal of Inherited Metabolic Disease, 36(2):373-384.

Omasits, Ulrich; Quebatte, Maxime; Stekhoven, Daniel J; Fortes, Claudia; Roschitzki, Bernd; Robinson, Mark D; Dehio, Christoph; Ahrens, Christian H (2013). Directed shotgun proteomics guided by saturated RNA-seq identifies a complete expressed prokaryotic proteome. Genome Research, 23(11):1916-1927.

Pacheco-Villalobos, David; Sankar, Martial; Ljung, Karin; Hardtke, Christian S (2013). Disturbed Local Auxin Homeostasis Enhances Cellular Anisotropy and Reveals Alternative Wiring of Auxin-ethylene Crosstalk in Brachypodium distachyon Seminal Roots. PLoS Genetics, 9(6):e1003564.

Asadollahi, Reza; Oneda, Beatrice; Sheth, Frenny; Azzarello-Burri, Silvia; Baldinger, Rosa; Joset, Pascal; Latal, Beatrice; Knirsch, Walter; Desai, Soaham; Baumer, Alessandra; Houge, Gunnar; Andrieux, Joris; Rauch, Anita (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics, 21(10):1100-1104.

Willi, Y; Griffith, P; Van Buskirk, J (2013). Drift load in populations of small size and low density. Heredity, 110:296-302.

Braunlin, E; Rosenfeld, H; Kampmann, C; Johnson, J; Beck, M; Giugliani, R; Guffon, N; Ketteridge, D; Sá Miranda, C M; Scarpa, M; Schwartz, I V; Leão Teles, E; Wraith, J E; Barrios, P; Dias da Silva, E; Kurio, G; Richardson, M; Gildengorin, G; Hopwood, J J; Imperiale, M; Schatz, A; Decker, C; Harmatz, P (2013). Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. Journal of Inherited Metabolic Disease, 36(2):385-394.

Huber, Céline; Faqeih, Eissa Ali; Bartholdi, Deborah; Bole-Feysot, Christine; Borochowitz, Zvi; Cavalcanti, Denise P; Frigo, Amandine; Nitschke, Patrick; Roume, Joelle; Santos, Heloísa G; Shalev, Stavit A; Superti-Furga, Andrea; Delezoide, Anne-Lise; Le Merrer, Martine; Munnich, Arnold; Cormier-Daire, Valérie (2013). Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. American Journal of Human Genetics, 92(1):144-149.

Wanschitz, Julia V; Dubourg, Odile; Lacene, Emmanuelle; Fischer, Michael B; Höftberger, Romana; Budka, Herbert; Romero, Norma B; Eymard, Bruno; Herson, Serge; Butler-Browne, Gillian S; Voit, Thomas; Benveniste, Olivier (2013). Expression of myogenic regulatory factors and myo-endothelial remodeling in sporadic inclusion body myositis. Neuromuscular Disorders : NMD, 23(1):75-83.

Bartholdi, Deborah; Asadollahi, Reza; Oneda, Beatrice; Schmitt-Mechelke, Thomas; Tonella, Paolo; Baumer, Alessandra; Rauch, Anita (2013). Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. American Journal of Medical Genetics. Part A, 161(8):1853-1859.

Houten, Sander M; Te Brinke, Heleen; Denis, Simone; Ruiter, Jos Pn; Knegt, Alida C; de Klerk, Johannis Bc; Augoustides-Savvopoulou, Persephone; Häberle, Johannes; Baumgartner, Matthias R; Coşkun, Turgay; Zschocke, Johannes; Sass, Jörn Oliver; Poll-The, Bwee Tien; Wanders, Ronald Ja; Duran, Marinus (2013). Genetic basis of hyperlysinemia. Orphanet Journal of Rare Diseases, 8:57.

Nies, Anne T; Niemi, Mikko; Burk, Oliver; Winter, Stefan; Zanger, Ulrich M; Stieger, Bruno; Schwab, Matthias; Schaeffeler, Elke (2013). Genetics is a major determinant of expression of the human hepatic uptake transporter OATP1B1, but not of OATP1B3 and OATP2B1. Genome Medicine, 5:1.

Cordell, Heather J; Töpf, Ana; Mamasoula, Chrysovalanto; Postma, Alex V; Bentham, Jamie; Zelenika, Diana; Heath, Simon; Blue, Gillian; Cosgrove, Catherine; Granados Riveron, Javier; Darlay, Rebecca; Soemedi, Rachel; Wilson, Ian J; Ayers, Kristin L; Rahman, Thahira J; Hall, Darroch; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Brook, J David; Setchfield, Kerry; Bu'Lock, Frances A; Thornborough, Chris; O'Sullivan, John; Stuart, A Graham; Parsons, Jonathan; Bhattacharya, Shoumo; Winlaw, David; Mital, Seema; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Moorman, Antoon F M; Rauch, Anita; Lathrop, G Mark; Keavney, Bernard D; Goodship, Judith A (2013). Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Human Molecular Genetics, 22(7):1473-1481.

Raissig, Michael T; Bemer, Marian; Baroux, Célia; Grossniklaus, Ueli (2013). Genomic imprinting in the Arabidopsis embryo is partly regulated by PRC2. PLoS Genetics, 9(12):e1003862.

Fenner, Lukas; Egger, Matthias; Bodmer, Thomas; Furrer, Hansjakob; Ballif, Marie; Battegay, Manuel; Helbling, Peter; Fehr, Jan; Gsponer, Thomas; Rieder, Hans L; Zwahlen, Marcel; Hoffmann, Matthias; Bernasconi, Enos; Cavassini, Matthias; Calmy, Alexandra; Dolina, Marisa; Frei, Reno; Janssens, Jean-Paul; Borrell, Sonia; Stucki, David; Schrenzel, Jacques; Böttger, Erik C; Gagneux, Sebastien (2013). HIV infection disrupts the sympatric host-pathogen relationship in human tuberculosis. PLoS Genetics, 9(3):e1003318.

Lin, Michelle K; Freitag, Christine M; Schote, Andrea B; Pálmason, Haukur; Seitz, Christiane; Renner, Tobias J; Romanos, Marcel; Walitza, Susanne; Jacob, Christian P; Reif, Andreas; Warnke, Andreas; Cantor, Rita M; Lesch, Klaus-Peter; Meyer, Jobst (2013). Haplotype co-segregation with attention deficit-hyperactivity disorder in unrelated German multi-generation families. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 162(8):855-863.

Weemaes, C M R; van Tol, A; Wang, J; van Ostajen-ten Dam, M M; van Eggermond, M C J M; Thijssen, P; Aytekin, C; Brunetti-Pierri, N; van der Burg, M; Davies, E G; Ferster, A; Furthner, D; Gimelli, G; Gennery, A; Kloeckener-Gruissem, B; Meyn, S; Powell, C; Reisli, I; Schuetz, C; Schulz, A; Shugar, A; van den Elsen, P J; van der Maarel, S M (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. European Journal of Human Genetics, 208(7):1102-1112.

Mohebbi, N; Vargas-Poussou, R; Hegemann, S; Schuknecht, B; Kistler, A; Wüthrich, R; Wagner, C (2013). Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss. Clinical Genetics, 83(3):274-278.

Jäger, J; Schulze, C; Rösner, S; Martin, R (2013). IL7RA haplotype-associated alterations in cellular immune function and gene expression patterns in multiple sclerosis. Genes and immunity, 14(7):453-461.

Bologna, Serena; Ferrari, Stefano (2013). It takes two to tango: Ubiquitin and SUMO in the DNA damage response. Frontiers in Genetics:4:106.

Schinzel, Albert; Riegel, Mariluce; Baumer, Alessandra; Superti-Furga, Andrea; Moreira, Lilia M A; Santo, Layla D E; Schiper, Patricia P; Carvalho, José Henrique Dantas; Giedion, Andres (2013). Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. American Journal of Medical Genetics. Part A, 161(9):2216-2225.

Markkanen, Enni; Dorn, Julia; Hübscher, Ulrich (2013). MUTYH DNA glycosylase: the rationale for removing undamaged bases from the DNA. Frontiers in Genetics:4:18.

Nater, A; Arora, N; Greminger, M P; van Schaik, C P; Singleton, I; Wich, S A; Fredriksson, G; Perwitasari-Farajallah, D; Pamungkas, J; Krützen, M (2013). Marked population structure and recent migration in the critically endangered Sumatran orangutan (Pongo abelii). Journal of Heredity, 104(1):2-13.

Auer-Grumbach, Michaela; Bode, Heiko; Pieber, Thomas R; Schabhüttl, Maria; Fischer, Dirk; Seidl, Rainer; Graf, Elisabeth; Wieland, Thomas; Schuh, Reinhard; Vacariu, Gerda; Grill, Franz; Timmerman, Vincent; Strom, Tim M; Hornemann, Thorsten (2013). Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. European Journal of Medical Genetics, 56(5):266-269.

Gai, Xiaowu; Ghezzi, Daniele; Johnson, Mark A; Biagosch, Caroline A; Shamseldin, Hanan E; Haack, Tobias B; Reyes, Aurelio; Tsukikawa, Mai; Sheldon, Claire A; Srinivasan, Satish; Gorza, Matteo; Kremer, Laura S; Wieland, Thomas; Strom, Tim M; Polyak, Erzsebet; Place, Emily; Consugar, Mark; Ostrovsky, Julian; Vidoni, Sara; Robinson, Alan J; Wong, Lee-Jun; Sondheimer, Neal; Salih, Mustafa A; Al-Jishi, Emtethal; Raab, Christopher P; Bean, Charles; Furlan, Francesca; Parini, Rossella; Lamperti, Costanza; Mayr, Johannes A; Konstantopoulou, Vassiliki; Huemer, Martina; Pierce, Eric A; Meitinger, Thomas; Freisinger, Peter; Sperl, Wolfgang; Prokisch, Holger; Alkuraya, Fowzan S; Falk, Marni J; Zeviani, Massimo (2013). Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics, 93(3):482-495.

Baranzini, Sergio; Khankhanian, Pouya; Patsopoulos, Nikolaos; Martin, Roland (2013). Network-based multiple sclerosis pathway analysis with GWAS data from 15,000 cases and 30,000 controls. American Journal of Human Genetics, 92(6):854-865.

Kloeckener-Gruissem, B; Neidhardt, J; Magyar, I; Plauchu, H; Zech, J C; Morlé, L; Palmer-Smith, S M; MacDonald, M J; Nas, V; Fry, A E; Berger, W (2013). Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. European Journal of Human Genetics, 21(3):352-356.

Ljung, R; Auerswald, G; Benson, G; Jetter, A; Jiménez-Yuste, V; Lambert, T; Morfini, M; Remor, E; Sørensen, B; Salek, S Z (2013). Novel coagulation factor concentrates: issues relating to their clinical implementation and pharmacokinetic assessment for optimal prophylaxis in haemophilia patients. Haemophilia, 19(4):481-486.

Davis, Lea K; Yu, Dongmei; Keenan, Clare L; Gamazon, Eric R; Konkashbaev, Anuar I; Derks, Eske M; Neale, Benjamin M; Yang, Jian; Lee, S Hong; Evans, Patrick; et al; Walitza, Susanne (2013). Partitioning the heritability of tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genetics, 9(10):e1003864.

Lubomirov, Rubin; Arab-Alameddine, Mona; Rotger, Margalida; Fayet-Mello, Aurélie; Martinez, Raquel; Guidi, Monia; di Iulio, Julia; Cavassini, Matthias; Günthard, Huldrych F; Furrer, Hansjakob; Marzolini, Catia; Bernasconi, Enos; Calmy, Alexandra; Buclin, Thierry; Decosterd, Laurent A; Csajka, Chantal; Telenti, Amalio (2013). Pharmacogenetics-based population pharmacokinetic analysis of etravirine in HIV-1 infected individuals. Pharmacogenetics and Genomics, 23(1):9-18.

Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; Nickerson, Elizabeth; Elkhartoufi, Nadia; Scott, Eric; Spencer, Emily; Gabriel, Stacey; Thomas, Sophie; Ben-Zeev, Bruria; Bertini, Enrico; Boltshauser, Eugen; Chaouch, Malika; Cilio, Maria Roberta; de Jong, Mirjam M; Kayserili, Hulya; Ogur, Gonul; Poretti, Andrea; Signorini, Sabrina; Uziel, Graziella; Zaki, Maha S; Johnson, Colin; Attié-Bitach, Tania; Gleeson, Joseph G; Valente, Enza Maria (2013). Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics, 21(10):1074-1078.

Goubau, Christophe; Devriendt, Koen; Van der Aa, Nathalie; Crepel, An; Wieczorek, Dagmar; Kleefstra, Tjitske; Willemsen, Marjolein H; Rauch, Anita; Tzschach, Andreas; de Ravel, Thomy; Leemans, Peter; Van Geet, Chris; Buyse, Gunnar; Freson, Kathleen (2013). Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12. European Journal of Human Genetics, 21(12):1349-1355.

Yang, Li; et al (2013). Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 162(5):419-430.

Sterl, Elisabeth; Paul, Karl; Paschke, Eduard; Zschocke, Johannes; Brunner-Krainz, Michaela; Windisch, Eva; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Karall, Daniela; Scholl-Bürgi, Sabine; Sperl, Wolfgang; Lagler, Florian; Plecko, Barbara (2013). Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. Journal of Inherited Metabolic Disease, 36(1):7-13.

Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver (2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases, 8:6.

Schlotawa, Lars; Radhakrishnan, Karthikeyan; Baumgartner, Matthias; Schmid, Regula; Schmidt, Bernhard; Dierks, Thomas; Gärtner, Jutta (2013). Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. European Journal of Human Genetics, 21(9):1020-1023.

Zahnleiter, Diana; Uebe, Steffen; Ekici, Arif B; Hoyer, Juliane; Wiesener, Antje; Wieczorek, Dagmar; Kunstmann, Erdmute; Reis, André; Doerr, Helmuth-Guenther; Rauch, Anita; Thiel, Christian T (2013). Rare copy number variants are a common cause of short stature. PLoS Genetics, 9(3):e1003365.

Burke, Georgina; Hiscock, Andrew; Klein, Andrea; Niks, Erik H; Main, Marion; Manzur, Adnan Y; Ng, Joanne; de Vile, Catherine; Muntoni, Francesco; Beeson, David; Robb, Stephanie (2013). Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular Disorders : NMD, 23(2):170-175.

Ogbah, Zighereda; Visa, Laura; Badenas, Celia; Ríos, José; Puig-Butille, Joan Anton; Bonifaci, Nuria; Guino, Elisabet; Augé, Josep Maria; Kolm, Isabel; Carrera, Cristina; Pujana, Miquel Angel; Malvehy, Josep; Puig, Susana (2013). Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona: 25-hydroxyvitamin D3 levels and VDR variants in melanoma patients from Barcelona. BMC Medical Genetics, 14:26.

Steinbusch, C V M; van Roozendaal, K E P; Tserpelis, D; Smeets, E E J; Kranenburg-de Koning, T J; de Waal, K H; Zweier, C; Rauch, A; Hennekam, R C M; Blok, M J; Schrander-Stumpel, C T R M (2013). Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clinical Genetics, 83(1):73-77.

Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A S; Duhoux, François P; Wassef, Michel; Enjolras, Odile; Mulliken, John B; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M; Vikkula, Miikka (2013). Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. American Journal of Human Genetics, 92(2):188-196.

Anjema, Karen; van Rijn, Margreet; Hofstede, Floris C; Bosch, Annet M; Hollak, Carla Em; Rubio-Gozalbo, Estela; de Vries, Maaike C; Janssen, Mirian Ch; Boelen, Carolien Ca; Burgerhof, Johannes Gm; Blau, Nenad; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J (2013). Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet Journal of Rare Diseases, 8:103.

Heintz, Caroline; Cotton, Richard G H; Blau, Nenad (2013). Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Human Mutation, 34(7):927-936.

Abplanalp, Jeanette; Laczko, Endre; Philip, Nancy J; Neidhardt, John; Zuercher, Jurian; Braun, Philipp; Schorderet, Daniel F; Munier, Francis L; Verrey, François; Berger, Wolfgang; Camargo, Simone M R; Kloeckener-Gruissem, Barbara (2013). The cataract and Glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Human Molecular Genetics, 22(16):3218-3226.

Singaraja, Roshni R; Sivapalaratnam, Suthesh; Landmesser, Ulf; et al (2013). The impact of partial and complete loss of function mutations in endothelial lipase on hdl levels and functionality in humans. Circulation. Cardiovascular Genetics, 6(1):54-62.

Grossniklaus, Ueli; Kelly, William G; Kelly, Bill; Ferguson-Smith, Anne C; Pembrey, Marcus; Lindquist, Susan (2013). Transgenerational epigenetic inheritance: how important is it? Nature Reviews. Genetics, 14(3):228-235.

Hadj-Rabia, Smail; Callewaert, Bert L; Bourrat, Emmanuelle; Kempers, Marlies; Plomp, Astrid S; Layet, Valerie; Bartholdi, Deborah; Renard, Marjolijn; De Backer, Julie; Malfait, Fransiska; Vanakker, Olivier M; Coucke, Paul J; De Paepe, Anne M; Bodemer, Christine (2013). Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Orphanet Journal of Rare Diseases, 8:36.

Tatton-Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M; Clericuzio, Carol L; Cormier-Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie-Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vivienne; Medeira, Ana; Ozono, Keiichi; Patton, Michael; Rankin, Julia; Shears, Debbie; Simon, Marleen; Splitt, Miranda; Strenger, Volker; Stuurman, Kyra; Taylor, Clare; Titheradge, Hannah; Van Maldergem, Lionel; Temple, I Karen; Cole, Trevor; Seal, Sheila; Rahman, Nazneen (2013). Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. American Journal of Medical Genetics. Part A, 161A(12):2972-2980.

Mamasoula, Chrysovalanto; Prentice, R Reid; Pierscionek, Tomasz; Pangilinan, Faith; Mills, James L; Druschel, Charlotte; Pass, Kenneth; Russell, Mark W; Hall, Darroch; Töpf, Ana; Brown, Danielle L; Zelenika, Diana; Bentham, Jamie; Cosgrove, Catherine; Bhattacharya, Shoumo; Riveron, Javier Granados; Setchfield, Kerry; Brook, J David; Bu'Lock, Frances A; Thornborough, Chris; Rahman, Thahira J; Doza, Julian Palomino; Tan, Huay L; O'Sullivan, John; Stuart, A Graham; Blue, Gillian; Winlaw, David; Postma, Alex V; Mulder, Barbara J M; Zwinderman, Aelko H; van Engelen, Klaartje; Moorman, Antoon F M; Rauch, Anita; Gewillig, Marc; Breckpot, Jeroen; Devriendt, Koen; Lathrop, G Mark; Farrall, Martin; Goodship, Judith A; Cordell, Heather J; Brody, Lawrence C; Keavney, Bernard D (2013). Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls. Circulation. Cardiovascular Genetics, 6(4):347-353.

2012

Valdés-Mora, Fátima; Song, Jenny Z; Statham, Aaron L; Strbenac, Dario; Robinson, Mark D; Nair, Shalima S; Patterson, Kate I; Tremethick, David J; Stirzaker, Clare; Clark, Susan J (2012). Acetylation of H2A.Z is a key epigenetic modification associated with gene deregulation and epigenetic remodeling in cancer. Genome Research, 22(2):307-321.

Robinson, Mark D; Strbenac, Dario; Stirzaker, Clare; Statham, Aaron L; Song, Jenny Z; Speed, Terence P; Clark, Susan J (2012). Copy-number-aware differential analysis of quantitative DNA sequencing data. Genome Research, 22(12):2489-2496.

Bourras, S; Meyer, M; Grandaubert, J; Lapalu, N; Fudal, I; Linglin, J; Ollivier, B; Blaise, F; Balesdent, M-H; Rouxel, T (2012). Incidence of Genome Structure, DNA Asymmetry, and Cell Physiology on T-DNA Integration in Chromosomes of the Phytopathogenic Fungus Leptosphaeria maculans. G3 : Genes, Genomes, Genetics, 2(8):891-904.

Rohrbach, Marianne; Giunta, Cecilia (2012). Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 160C(3):175-189.

Eggermann, Thomas; Spengler, Sabrina; Venghaus, Andreas; Denecke, Bernd; Zerres, Klaus; Baudis, Michael; Ensenauer, Regina (2012). 2p21 Deletions in hypotonia-cystinuria syndrome. European Journal of Medical Genetics, 55(10):561-563.

Haeberle, Johannes; Shahbeck, Noora; Ibrahim, Khalid; Schmitt, Bernhard; Scheer, Ianina; O'Gorman, Ruth; Chaudhry, Farrukh A; Ben-Omran, Tawfeg (2012). Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. Orphanet Journal of Rare Diseases, 7:48.

Statham, Aaron L; Robinson, Mark D; Song, Jenny Z; Coolen, Marcel W; Stirzaker, Clare; Clark, Susan J (2012). Bisulfite sequencing of chromatin immunoprecipitated DNA (BisChIP-seq) directly informs methylation status of histone-modified DNA. Genome Research, 22(6):1120-1127.

Oneda, B; Rauch, A (2012). Molekulare Karyotypisierung in der Diagnostik neurokognitiver Entwicklungsstörungen. Medizinische Genetik, 24(2):94-98.

Thiel, C; Rauch, A (2012). Wachstumsstörungen als Leitsymptom. Medizinische Genetik, 24(2):123-137.

Baudis, Michael; Giefing, M; Cai, Haoyang; Kumar, Nitin; Vater, I; Ricter, J; Siebert, R (2012). Array-basierter Nachweis chromosomaler Aberrationen bei malignen Neoplasien. Medizinische Genetik, 24(2):114-122.

Häberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Crespo, Pablo Sanjurjo; Santer, René; Servais, Aude; Valayannopoulos, Vassili; Lindner, Martin; Rubio, Vicente; Dionisi-Vici, Carlo (2012). Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases, 7:32.

Canella, Donatella; Bernasconi, David; Gilardi, Federica; LeMartelot, Gwendal; Migliavacca, Eugenia; Praz, Viviane; Cousin, Pascal; Delorenzi, Mauro; Hernandez, Nouria (2012). A multiplicity of factors contributes to selective RNA polymerase III occupancy of a subset of RNA polymerase III genes in mouse liver. Genome Research, 22:666-680.

Zampatti, Stefania; Castori, Marco; Fischer, Bjoern; Ferrari, Paola; Garavelli, Livia; Dionisi-Vici, Carlo; Agolini, Emanuele; Wischmeijer, Anita; Morava, Eva; Novelli, Giuseppe; Häberle, Johannes; Kornak, Uwe; Brancati, Francesco (2012). De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. American Journal of Medical Genetics. Part A, 158A(4):927-931.

Eigeldinger-Berthou, Sylvie; Buntschu, Patrick; Flück, Martin; Frobert, Aurélien; Ferrié, Céline; Carrel, Thierry P; Tevaearai, Hendrik T; Kadner, Alexander (2012). Electric pulses augment reporter gene expression in the beating heart. Journal of Gene Medicine, 14(3):191-203.

Martínez-Glez, Víctor; Valencia, Maria; Caparrós-Martín, José A; Aglan, Mona; Temtamy, Samia; Tenorio, Jair; Pulido, Veronica; Lindert, Uschi; Rohrbach, Marianne; Eyre, David; Giunta, Cecilia; Lapunzina, Pablo; Ruiz-Perez, Victor L (2012). Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Human Mutation, 33(2):343-350.

Mayr, Johannes A; Haack, Tobias B; Graf, Elisabeth; Zimmermann, Franz A; Wieland, Thomas; Haberberger, Birgit; Superti-Furga, Andrea; Kirschner, Janbernd; Steinmann, Beat; Baumgartner, Matthias R; Moroni, Isabella; Lamantea, Eleonora; Zeviani, Massimo; Rodenburg, Richard J; Smeitink, Jan; Strom, Tim M; Meitinger, Thomas; Sperl, Wolfgang; Prokisch, Holger (2012). Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. American Journal of Human Genetics, 90(2):314-320.

Baumann, Matthias; Giunta, Cecilia; Krabichler, Birgit; Rüschendorf, Franz; Zoppi, Nicoletta; Colombi, Marina; Bittner, Reginald E; Quijano-Roy, Susana; Muntoni, Francesco; Cirak, Sebahattin; Schreiber, Gudrun; Zou, Yaqun; Hu, Ying; Romero, Norma Beatriz; Carlier, Robert Yves; Amberger, Albert; Deutschmann, Andrea; Straub, Volker; Rohrbach, Marianne; Steinmann, Beat; Rostásy, Kevin; Karall, Daniela; Bönnemann, Carsten G; Zschocke, Johannes; Fauth, Christine (2012). Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. American Journal of Human Genetics, 90(2):201-216.

Engel, Katharina; Vuissoz, Jean-Marc; Eggimann, Sandra; Groux, Murielle; Berning, Christoph; Hu, Liyan; Klaus, Vera; Moeslinger, Dorothea; Mercimek-Mahmutoglu, Saadet; Stöckler, Sylvia; Wermuth, Bendicht; Häberle, Johannes; Nuoffer, Jean-Marc (2012). Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. Journal of Inherited Metabolic Disease, 35(1):133-140.

Kraus, J P; Spector, E; Venezia, S; Estes, P; Chiang, P W; Creadon-Swindell, G; Müllerleile, S; de Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, R; Bodamer, O A; Baumgartner, M R; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, J B; Steinfeld, R; Beblo, S; Koch, H G; Konstantopoulou, V; Scholl-Bürgi, S; van Teeffelen-Heithoff, A; Suormala, T; Ugarte, M; Sperl, W; Superti-Furga, A; Schwab, K O; Grünert, S C; Sass, J O (2012). Mutation analysis in 54 propionic acidemia patients. Journal of Inherited Metabolic Disease, 35(1):51-63.

Grünert, S C; Müllerleile, S; de Silva, L; Barth, M; Walter, M; Walter, K; Meissner, T; Lindner, M; Ensenauer, R; Santer, R; Bodamer, O A; Baumgartner, M R; Brunner-Krainz, M; Karall, D; Haase, C; Knerr, I; Marquardt, T; Hennermann, J B; Steinfeld, R; Beblo, S; Koch, H G; Konstantopoulou, V; Scholl-Bürgi, S; van Teeffelen-Heithoff, A; Suormala, T; Sperl, W; Kraus, J P; Superti-Furga, A; Schwab, K O; Sass, J O (2012). Propionic acidemia: neonatal versus selective metabolic screening. Journal of Inherited Metabolic Disease, 35(1):41-49.

Grünert, Sarah C; Stucki, Martin; Morscher, Raphael J; Suormala, Terttu; Bürer, Celine; Burda, Patricie; Christensen, Ernst; Ficicioglu, Can; Herwig, Jürgen; Kölker, Stefan; Möslinger, Dorothea; Pasquini, Elisabetta; Santer, René; Schwab, K Otfried; Wilcken, Bridget; Fowler, Brian; Yue, Wyatt W; Baumgartner, Matthias R (2012). 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases, 7:31.

Avbelj Stefanija, Magdalena; Jeanpierre, Marc; Sykiotis, Gerasimos P; Young, Jacques; Quinton, Richard; Abreu, Ana Paula; Plummer, Lacey; Au, Margaret G; Balasubramanian, Ravikumar; Dwyer, Andrew A; Florez, Jose C; Cheetham, Timothy; Pearce, Simon H; Purushothaman, Radhika; Schinzel, Albert; Pugeat, Michel; Jacobson-Dickman, Elka E; Ten, Svetlana