Header

UZH-Logo

Maintenance Infos

Browse by Communities & Collections

Navigate back| Up a level
Export as
Number of items at this level: 375.

2021

Bättig, Linda; Rosch, Richard Ewald; Steindl, Katharina; Bürki, Sarah Elisabeth; Ramantani, Georgia (2021). Sotos syndrome and the added value of genetic workup in epilepsy surgery. Epilepsia Open, 6(4):793-794.

Zanoni, Paolo; Panteloglou, Grigorios; Othman, Alaa; Haas, Joel T; Meier, Roger; Rimbert, Antoine; Futema, Marta; Abou-Khalil, Yara; Nørrelykke, Simon Flyvbjerg; Rzepiela, Andrzej; Stoma, Szymon; Stebler, Michael; Dijk, Freerk van; Wijers, Melinde; Wolters, Justina C; Dalila, Nawar; Huijkman, Nicolette; Smit, Marieke; Gallo, Antonio; Carreau, Valerie; Philippi, Anne; Rabès, Jean-Pierre; Boileau, Catherine; Visentin, Michele; Vonghia, Luisa; Weyler, Jonas; Francque, Sven; Verrijken, An; Verhaegen, Ann; Van Gaal, Luc F; et al; von Eckardstein, Arnold (2021). Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome. Circulation Research:Epub ahead of print.

Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; McNamara, Hanna K; Zhao, Wukui; Caraffi, Stefano G; Ivanovski, Ivan; et al (2021). NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Molecular Cell, 81(22):4663-4676.e8.

Ricci, Emilia; Fetta, Anna; Garavelli, Livia; Caraffi, Stefano; Ivanovski, Ivan; et al (2021). Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals. Epilepsy & Behavior, 124:108315-108325.

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

Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; et al; Steinfeld, Robert; Joset, Pascal; Steindl, Katharina; Rauch, Anita (2021). Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Journal of Medical Genetics:Epub ahead of print.

Condoluci, Adalgisa; Théaudin, Marie; Schwotzer, Rahel; Pazhenkottil, Aju P; Arosio, Paolo; Averaimo, Manuela; Bacher, Ulrike; Bode, Peter; Cavalli, Andrea; Dirnhofer, Stefan; Djerbi, Nadia; Dobner, Stephan; Fehr, Thomas; Garofalo, Maura; Gaspert, Ariana; Gerull, Sabine; Heimgartner, Raphael; Hübers, Annemarie; Jung, Hans H; Kessler, Chiara; Knöpfel, Raphael; Laptseva, Natallia; Magini, Giulia; Manka, Robert; Mazzucchelli, Luca; Meyer, Martin; Mihaylova, Violeta; Monney, Pierre; Mylonas, Alessio; Nkoulou, René; Pabst, Thomas; Pfister, Otmar; Rüfer, Axel; Schmidt, Adrian; Seeger, Harald; Stämpfli, Simon F; Stirnimann, Guido; Suter, Thomas; Treglia, Giorgio; Tzankov, Alexandar; Vetter, Friederike; Zweier, Markus; Flammer, Andreas J; Gerber, Bernhard (2021). Management of transthyretin amyloidosis. Swiss Medical Weekly, 151:w30053.

Škorić-Milosavljević, Doris; Lahrouchi, Najim; Bosada, Fernanda M; et al; German Competence Network for Congenital Heart Defects; et al; Steindl, Katharina; Rauch, Anita (2021). Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genetics in Medicine, 23(10):2013.

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

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

Tran, Christel; Turolla, Licia; Ballhausen, Diana; Buros, Sandrine Cornaz; Teav, Tony; Gallart-Ayala, Hector; Ivanisevic, Julijana; Faouzi, Mohamed; Lefeber, Dirk J; Ivanovski, Ivan; Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Garavelli, Livia; Superti-Furga, Andrea (2021). The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects. Molecular Genetics and Metabolism Reports, 28:100777.

Krumm, Laura; Pozner, Tatyana; Kaindl, Johanna; Regensburger, Martin; Günther, Claudia; Turan, Soeren; Asadollahi, Reza; Rauch, Anita; Winner, Beate (2021). Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Research, 56:1-6.

Gogoll, Laura; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Baumer Wolz, Alessandra; Gerth-Kahlert, Christina; Tutschek, Boris; Rauch, Anita (2021). Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature. American Journal of Medical Genetics. Part A, 185(8):2546-2560.

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

Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Brotschi, Barbara; Laube, Guido; Güngör, Tayfun; Kottke, Raimund; Weber, Achim; Griese, Matthias; Pachlopnik Schmid, Jana; et al (2021). Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency. Journal of Allergy and Clinical Immunology, 148(2):381-393.

Cardenas-Rodriguez, Magdalena; Austin-Tse, Christina; Bergboer, Judith G M; Molinari, Elisa; Sugano, Yuya; Bachmann-Gagescu, Ruxandra; Sayer, John A; Drummond, Iain A (2021). Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science, 134(14):Epub ahead of print.

Masek, Markus; Etard, Christelle; Hofmann, Claudia; Hülsmeier, Andreas J; Zang, Jingjing; Takamiya, Masanari; Gesemann, Matthias; Neuhauss, Stephan; Hornemann, Thorsten; Strähle, Uwe; Bachmann-Gagescu, Ruxandra (2021). The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition. arXiv.org 452166, University of Zurich.

Ernst, Michelle E; Baugh, Evan H; Thomas, Amanda; Bier, Louise; Lippa, Natalie; et al; Rauch, Anita; Joset, Pascal; Steindl, Katharina (2021). CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia, 62(7):Epub ahead of print.

Rechsteiner, Delia; Issler, Lydia S; Koller, Samuel; Lang, Elena; Bahr, Luzy; Feil, Silke; Rüegger, Christoph; Kottke, Raimund; Toelle, Sandra P; Zweifel, Noëmi; Steindl, Katharina; Joset, Pascal; Zweier, Markus; Suter, Aude-Annick; Gogoll, Laura; Haas, Cordula; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmology, 139(7):691.

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

Collier, Jack J; Guissart, Claire; Oláhová, Monika; Sasorith, Souphatta; Piron-Prunier, Florence; et al; Bahr, Angela; Azzarello-Burri, Silvia; Rauch, Anita (2021). Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. New England Journal of Medicine, 384(25):2406-2417.

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

Kummeling, Joost; Stremmelaar, Diante E; Raun, Nicholas; Reijnders, Margot R F; Willemsen, Marjolein H; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C O; Gilissen, Christian; Cho, Megan T; McWalter, Kirsty; Sinnema, Margje; Wheless, James W; Simon, Marleen E H; Genetti, Casie A; Casey, Alicia M; Terhal, Paulien A; van der Smagt, Jasper J; van Gassen, Koen L I; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A; Agrawal, Pankaj B; Hoffman, Trevor L; Powell-Hamilton, Nina N; Thiffault, Isabelle; et al (2021). Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Molecular Psychiatry, 26(6):2013-2024.

Lang, Elena; Koller, Samuel; Atac, David; Pfäffli, Oliver A; Hanson, James V M; Feil, Silke; Bähr, Luzy; Bahr, Angela; Kottke, Raimund; Joset, Pascal; Fasler, Katrin; Barthelmes, Daniel; Steindl, Katharina; Konrad, Daniel; Wille, David-Alexander; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica, 99(4):Epub ahead of print.

Bölsterli, Bigna K; Steindl, Katharina; Kottke, Raimund; Steinfeld, Robert; Boltshauser, Eugen (2021). Lissencephaly with Brainstem Hypoplasia and Dysplasia: Think MACF1. Neuropediatrics, 52(03):227.

Bättig, Linda; Rosch, Richard; Steindl, Katharina; Bürki, Sarah E; Ramantani, Georgia (2021). Sotos syndrome: a pitfall in the presurgical workup of temporal lobe epilepsy. Epilectic Disorders, 23(3):506-510.

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

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

Schmiady, Martin; Dave, Hitendu; Rüschoff, Jan Hendrick; Steindl, Katharina; Hübler, Michael; Schweiger, Martin (2021). Single coronary artery arising from an atretic pulmonary trunk. Asian Cardiovascular and Thoracic Annals, 29(4):327-329.

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

Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; et al (2021). MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Annals of Neurology, 89(4):828-833.

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

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

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

Mytils, Avishag; Kumar, Vineet; Tao, Qiu; Deis, Rachael; Levy, Karine; Masek, Markus; Eitan, Hagai; Nather, Farouq; Shawahny, Amal; Bachmann-Gagescu, Ruxandra; Roy, Sudipto; Elkouby, Yaniv M (2021). Ciliary control of meiotic chromosomal pairing mechanics and germ cell morphogenesis. bioRxiv 430249, University of Zurich.

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

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

Hysaj, Ola; Marqués-Gallego, Patricia; Richard, Aline; Elgizouli, Magdeldin; Nieters, Alexandra; Quack Lötscher, Katharina C; Rohrmann, Sabine (2021). Parathyroid Hormone in Pregnancy: Vitamin D and Other Determinants. Nutrients, 13:360.

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

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

2020

Schwotzer, Rahel; Flammer, Andreas J; Gerull, Sabine; Pabst, Thomas; Arosio, Paolo; Averaimo, Manuela; Bacher, Vera Ulrike; Bode, Peter; Cavalli, Andrea; Concoluci, Adalgisa; Dirnhofer, Stefan; Djerbi, Nadia; Dobner, Stefan W; Fehr, Thomas; Garofalo, Maura; Gaspert, Ariana; Heimgartner, Raphael; Hbers, Annemarie; Jung, Hans H; Kessler, Chiara; Knpfel, Raphael; Laptseva, Natallia; Manka, Robert; Mazzucchelli, Luca; Meyer, Martin; Mihaylova, Violeta; Monney, Pierre; Mylonas, Alessio; Nkoulou, Ren; Pazhenkottil, Aju; Seeger, Harald; et al (2020). Expert recommendation from the Swiss Amyloidosis Network (SAN) for systemic AL-amyloidosis. Swiss Medical Weekly, 150:w20364.

Schneeberger, Pauline E; von Elsner, Leonie; Barker, Emma L; Meinecke, Peter; Marquardt, Iris; Alawi, Malik; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Zwijnenburg, Petra J G; Weiss, Marjan M; Merry, Catherine L R; Kutsche, Kerstin (2020). Bi-allelic pathogenic variants in HS2ST1 cause a syndrome characterized by developmental delay and corpus callosum, skeletal, and renal abnormalities. American Journal of Human Genetics, 107(6):1044-1061.

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

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

Wyvekens, Nicolas; Valtcheva, Nadejda; Mischo, Axel; Helmchen, Birgit; Hermanns, Thomas; Choschzick, Matthias; Hötker, Andreas M; Rauch, Anita; Mühleisen, Beda; Akhoundova, Dilara; Weber, Achim; Moch, Holger; Rupp, Niels J (2020). Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach. Genes, Chromosomes and Cancer, 59(11):611-619.

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

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

Oneda, Beatrice; Sirleto, Pietro; Baldinger, Rosa; Taralczak, Malgorzata; Joset, Pascal; Zweier, Markus; Niedrist, Dunja; Azzarello-Burri, Silvia; Britschgi, Christian; Breymann, Christian; Ochsenbein-Kölble, Nicole; Burkhardt, Tilo; Wisser, Josef; Zimmermann, Roland; Steindl, Katharina; Rauch, Anita (2020). Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 252:19-29.

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

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

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.

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

Wälchli, Regula; Knöpfel, Nicole; Steindl, Katharina; Kernland-Lang, Kristin; Theiler, Martin; Weibel, Lisa (2020). Periorbital pigmented skin tags and milia. Pediatric Dermatology, 37(4):740-741.

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

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

Lang, Elena; Koller, Samuel; Bahr, Luzy; Töteberg-Harms, Marc; Atac, David; Roulez, Françoise; Bahr, Angela; Steindl, Katharina; Feil, Silke; Berger, Wolfgang; Gerth-Kahlert, Christina (2020). Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. Translational vision science & technology, 9(7):47.

Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara D S; Letteboer, Stef J F; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia E C; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan C F; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8):4423-4439.

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

Tutschek, Boris; Mayer, Karin; Rauch, Anita (2020). Fetal tuberous sclerosis and the diagnosis of paternal gonadal mosaicism. Ultrasound in Obstetrics & Gynecology, 55(5):691-692.

Zanoni, Paolo; von Eckardstein, Arnold (2020). Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development. Current Opinion in Lipidology, 31(2):62-70.

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.

Delaney, Angela; Volochayev, Rita; Meader, Brooke; Lee, Janice; Almpani, Konstantinia; Noukelak, Germaine Y; Henkind, Jennifer; Chalmers, Laura; Law, Jennifer R; Williamson, Kathleen A; Jacobsen, Christina M; Buitrago, Tatiana Pineda; Perez, Orlando; Cho, Chie-Hee; Kaindl, Angela; Rauch, Anita; Steindl, Katharina; Garcia, Jose Elias; Russell, Bianca E; Prasad, Rameshwar; Mondal, Uttam K; Reigstad, Hallvard M; Clements, Scott; Kim, Susan; Inoue, Kaoru; Arora, Gazal; Salnikov, Kathryn B; DiOrio, Nicole P; Prada, Rolando; Capri, Yline; et al (2020). Insight Into the ontogeny of GnRH neurons from patients born without a nose. Journal of Clinical Endocrinology & Metabolism, 105(5):1538-1551.

Johnson, Brett V; Kumar, Raman; Oishi, Sabrina; et al; Rauch, Anita; Steindl, Katharina; Joset, Pascal (2020). Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biological Psychiatry, 87(2):100-112.

Werling, Anna Maria; Grünblatt, Edna; Oneda, Beatrice; Bobrowski, Elise; Gundelfinger, Ronnie; Taurines, Regina; Romanos, Marcel; Rauch, Anita; Walitza, Susanne (2020). High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability. Journal of Neural Transmission, 127(1):81-94.

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.

2019

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.

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.

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.

Ruperti-Repilado, Francisco Javier; Haefliger, Simon; Rehm, Sophia; Zweier, Markus; Rentsch, Katharina M; Blum, Johannes; Jetter, Alexander; Heim, Markus; Leuppi-Taegtmeyer, Anne; Terracciano, Luigi; Bernsmeier, Christine (2019). Danger of Herbal Tea: A Case of Acute Cholestatic Hepatitis Due to Artemisia annua Tea. Frontiers in Medicine, 6:221.

Gaisl, Odile; Konrad, Daniel; Joset, Pascal; Lang-Muritano, Mariarosaria (2019). A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. Journal of Pediatric Endocrinology & Metabolism, 32(9):1027-1030.

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.

Kraemer, Dennis; Azzarello-Burri, Silvia; Steindl, Katharina; Boonsawat, Paranchai; Zweier, Markus; Dedes, Konstantin J; Joset, Pascal; Fink, Daniel; Rauch, Anita (2019). Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. Swiss Medical Weekly, 149:w20092.

Bachmann-Gagescu, Ruxandra (2019). A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome. Journal of Pathology, 248(4):393-395.

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.

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.

Bachmann-Gagescu, Ruxandra; Neuhauss, Stephan C F (2019). The photoreceptor cilium and its diseases. Current Opinion in Genetics & Development, 56:22-33.

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.

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.

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.

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.

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.

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.

Kleine-Eggebrecht, Nicola; Staufner, Christian; Kathemann, Simone; Elgizouli, Magdeldin; Kopajtich, Robert; Prokisch, Holger; Lainka, Elke (2019). Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure. Pediatrics, 143(2):e20181554.

van Gijn, Stephanie; Wierenga, Elles; van den Tempel, Nathalie; Kok, Yannick P; Heijink, Anne Margriet; Spierings, Diana C J; Foijer, Floris; van Vugt, Marcel A T M; Fehrmann, Rudolf S N (2019). TPX2/Aurora kinase A signaling as a potential therapeutic target in genomically unstable cancer cells. Oncogene, 38(6):852-867.

Heijink, Anne Margriet; Talens, Francien; Jae, Lucas T; van Gijn, Stephanie; Fehrmann, Rudolf S N; Brummelkamp, Thijn R; van Vugt, Marcel A T M (2019). BRCA2 deficiency instigates cGAS-mediated inflammatory signaling and confers sensitivity to tumor necrosis factor-alpha-mediated cytotoxicity. Nature Communications, 10(1):100.

2018

Lampart, Simon; Azzarello-Burri, Silvia; Henzen, Christoph; Fischli, Stefan (2018). Special form of osteoporosis in a 53-year-old man. BMJ Case Reports, 11(1):e226672.

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.

Popp, Bernt; Krumbiegel, Mandy; Grosch, Janina; Sommer, Annika; Uebe, Steffen; Kohl, Zacharias; Plötz, Sonja; Farrell, Michaela; Trautmann, Udo; Kraus, Cornelia; Ekici, Arif B; Asadollahi, Reza; Regensburger, Martin; Günther, Katharina; Rauch, Anita; Edenhofer, Frank; Winkler, Jürgen; Winner, Beate; Reis, André (2018). Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium. Scientific Reports, 8:17201.

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.

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.

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.

Nahorski, Michael S; Maddirevula, Sateesh; Ishimura, Ryosuke; et al; Begemann, Anaïs; Rauch, Anita (2018). Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. Brain: a journal of neurology, 141(7):1934-1945.

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.

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.

Hanemaaijer, Saskia H; van Gijn, Stephanie; Oosting, Sjoukje F; Plaat, Boudewijn E C; Moek, Kirsten L; Schuuring, Ed M; van der Laan, Bernard F A M; Roodenburg, Jan L N; van Vugt, Marcel A T M; van der Vegt, Bert; Fehrmann, Rudolf S N (2018). Data-Driven prioritisation of antibody-drug conjugate targets in head and neck squamous cell carcinoma. Oral Oncology, 80:33-39.

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.

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.

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.

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.

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.

2017

Hackenberg, Annette; Boltshauser, Eugen; Gerth-Kahlert, Christina; Stahr, Nikolai; Azzarello-Burri, Silvia; Plecko, Barbara (2017). Horizontal gaze palsy in two brothers with compound heterozygous ROBO3 gene mutations. Neuropediatrics, 48(01):57-58.

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

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.

Hamilton, Eline M C; Bertini, Enrico; Kalaydjieva, Luba; Morar, Bharti; Dojčáková, Dana; Liu, Judy; Vanderver, Adeline; Curiel, Julian; Persoon, Claudia M; Diodato, Daria; Pinelli, Lorenzo; van der Meij, Nathalie L; Plecko, Barbara; Blaser, Susan; Wolf, Nicole I; Waisfisz, Quinten; Abbink, Truus E M; van der Knaap, Marjo S; Recessive H-ABC Research Group (2017). UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology, 89(17):1821-1828.

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.

Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

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.

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.

Oneda, Beatrice; Rauch, Anita (2017). Microarrays in prenatal diagnosis. Best Practice & Research. Clinical Obstetrics & Gynaecology, 42:53-63.

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.

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.

Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A; Bengani, Hemant; Plummer, Lacey; Jones, Takako I; Erdin, Serkan; Williamson, Kathleen A; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B; Dunican, Donncha S; Collins, Ryan L; Willer, Jason R; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; et al (2017). Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics, 49(6):969.

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.

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.

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.

Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A; Bengani, Hemant; Plummer, Lacey; Jones, Takako I; Erdin, Serkan; Williamson, Kathleen A; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B; Dunican, Donncha S; Collins, Ryan L; Willer, Jason R; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; et al (2017). SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics, 49(2):238-248.

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.

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.

Abela, Lucia; Spiegel, Ronen; Crowther, Lisa M; Klein, Andrea; Steindl, Katharina; Papuc, Sorina Mihaela; Joset, Pascal; Zehavi, Yoav; Rauch, Anita; Plecko, Barbara; Simmons, Thomas Luke (2017). Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. PLoS ONE, 12(5):e0176363.

2016

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.

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.

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.

Brodbeck, Michael; Yousif, Q; Diener, P A; Zweier, M; Gruenert, J (2016). The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. BMC Research Notes, 9:294.

Oneda, Beatrice; Steindl, Katharina; Masood, Rahim; Reshetnikova, Irina; Krejci, Pavel; Baldinger, Rosa; Reissmann, Regina; Taralczak, Malgorzata; Guetg, Adriano; Wisser, Josef; Fauchère, Jean-Claude; Rauch, Anita (2016). Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 200:72-75.

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

Asadollahi, Reza (2016). Inspirations in medical genetics. Journal of medical biography, 24(1):138-140.

D'Angelo, Debra; Lebon, Sébastien; Chen, Qixuan; Martin-Brevet, Sandra; Snyder, LeeAnne Green; Hippolyte, Loyse; Hanson, Ellen; Maillard, Anne M; Faucett, W Andrew; Macé, Aurélien; Pain, Aurélie; Bernier, Raphael; Chawner, Samuel J R A; David, Albert; Andrieux, Joris; Aylward, Elizabeth; Baujat, Genevieve; Caldeira, Ines; Conus, Philippe; Ferrari, Carrina; Forzano, Francesca; Gérard, Marion; Goin-Kochel, Robin P; Grant, Ellen; Hunter, Jill V; Isidor, Bertrand; Jacquette, Aurélia; Jønch, Aia E; Keren, Boris; Lacombe, Didier; et al (2016). Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry, 73(1):20-30.

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.

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.

Niedrist, Dunja (2016). Hochdurchsatz-Sequenzierung. Swiss Medical Forum, 16(5152):1103-1104.

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.

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.

2015

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.

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.

Giarrana, Miriam L; Joset, Pascal; Sticht, Heinrich; Robb, Stephanie; Steindl, Katharina; Rauch, Anita; Klein, Andrea (2015). A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4):668-673.

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.

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.

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

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

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

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

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

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.

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.

Maass, Philipp G; Aydin, Atakan; Luft, Friedrich C; et al (2015). PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics, 47(6):647-653.

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.

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.

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.

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.

Imthurn, Bruno; Berger, Wolfgang; Macas, Ervin; Magyar, István; Oneda, Beatrice; Rauch, Anita; Xie, Min (2015). Polar body diagnosis (PBD): an alternative and supplement to preimplantation diagnosis for single embryo transfer. In: Sills, E Scott. Screening the Single Euploid Embryo : Molecular Genetics in Reproductive Medicine. International Publishing Switzerland: Springer, 103-122.

2014

Bachmann-Gagescu, Ruxandra (2014). Complexité génétique des ciliopathies et identification de nouveaux gènes. Médecine/Sciences, 30(11):1011-1023.

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.

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.

Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias (2014). Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. European Journal of Pediatrics, 173(9):1253-1256.

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.

Hackenberg, Annette; Baumer, Alessandra; Sticht, Heinrich; Schmitt, Bernhard; Kroell-Seger, Judith; Wille, David; Joset, Pascal; Papuc, Sorina; Rauch, Anita; Plecko, Barbara (2014). Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics, 45(4):261-264.

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.

Zollino, Marcella; Orteschi, Daniela; Ruiter, Mariken; Pfundt, Rolph; Steindl, Katharina; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica (2014). Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. Epilepsia, 55(6):849-857.

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.

Hart, Lesley; Rauch, Anita; Carr, Antony M; Vermeesch, Joris R; O'Driscoll, Mark (2014). LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition. Disease Models & Mechanisms, 7(5):535-545.

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.

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.

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.

2013

Pajarola, Sandra; Bachmann, Ruxandra; Niedrist, Dunja; Rauch, Anita (2013). Grundlagen der medizinischen Genetik. Praxis, 102(24):1457-65.

Steindl, Katharina (2013). Marfan-Syndrom und andere genetisch bedingte Aortenerkrankungen. Praxis, 102(24):1483-1488.

Hofmann, Kristin; Zweier, Markus; Sticht, Heinrich; Zweier, Christiane; Wittmann, Wolfgang; Hoyer, Juliane; Uebe, Steffen; van Haeringen, Arie; Thiel, Christian T; Ekici, Arif B; Reis, André; Rauch, Anita (2013). Biallelic SEMA3A defects cause a novel type of syndromic short stature. American Journal of Medical Genetics. Part A, 161A(11):2880-2889.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

2012

Zingg-Schenk, Andrea; Caduff, Jürg; Azzarello-Burri, Silvia; Bergmann, Carsten; Drenth, Joost P H; Neuhaus, Thomas J (2012). Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease. Pediatric Nephrology, 27(7):1197-200.

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; Latronico, Ana Claudia; Gusella, James F; Dode, Catherine; Crowley, William F; Pitteloud, Nelly (2012). An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics, 21(19):4314-4324.

Frühmesser, Anne; Haberlandt, Edda; Judmaier, Werner; Schinzel, Albert; Utermann, Barbara; Erdel, Martin; Fauth, Christine; Utermann, Gerd; Zschocke, Johannes; Kotzot, Dieter (2012). Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype. American Journal of Medical Genetics. Part A, 158A(9):2239-2244.

Hoyer, Juliane; Ekici, Arif B; Endele, Sabine; Popp, Bernt; Zweier, Christiane; Wiesener, Antje; Wohlleber, Eva; Dufke, Andreas; Rossier, Eva; Petsch, Corinna; Zweier, Markus; Göhring, Ina; Zink, Alexander M; Rappold, Gudrun; Schröck, Evelin; Wieczorek, Dagmar; Riess, Olaf; Engels, Hartmut; Rauch, Anita; Reis, André (2012). Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. American Journal of Human Genetics, 90(3):565-572.

Wolff, D; Endele, S; Azzarello-Burri, S; Hoyer, J; Zweier, M; Schanze, I; Schmitt, B; Rauch, A; Reis, A; Zweier, C (2012). In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Molecular Syndromology, 2(6):237-244.

Poretti, Andrea; Mall, Volker; Smitka, Martin; Grunt, Sebastian; Risen, Sarah; Toelle, Sandra P; Benson, Jane E; Yoshida, Shoko; Jung, Nikolai H; Tinschert, Sigrid; Neuhann, Teresa M; Rauch, Anita; Steinlin, Maja; Meoded, Avner; Huisman, Thierry A G M; Boltshauser, Eugen (2012). Macrocerebellum: significance and pathogenic considerations. Cerebellum, 11(4):1026-1036.

Robberecht, Caroline; Voet, Thierry; Utine, Gülen E; Schinzel, Albert; de Leeuw, Nicole; Fryns, Jean-Pierre; Vermeesch, Joris (2012). Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Molecular Cytogenetics, 5:19.

Rice, Gillian I; Kasher, Paul R; Forte, Gabriella M A; Mannion, Niamh M; Greenwood, Sam M; Szynkiewicz, Marcin; Dickerson, Jonathan E; Bhaskar, Sanjeev S; Zampini, Massimiliano; Briggs, Tracy A; Jenkinson, Emma M; Bacino, Carlos A; Battini, Roberta; Bertini, Enrico; Brogan, Paul A; Brueton, Louise A; Carpanelli, Marialuisa; De Laet, Corinne; de Lonlay, Pascale; del Toro, Mireia; Desguerre, Isabelle; Fazzi, Elisa; Garcia-Cazorla, Angels; Heiberg, Arvid; Kawaguchi, Masakazu; Kumar, Ram; Lin, Jean-Pierre S-M; Lourenco, Charles M; Male, Alison M; Marques Jr., Wilson; Mignot, Cyril; Olivieri, Ivana; Orcesi, Simona; Prabhakar, Prab; Rasmussen, Magnhild; Robinson, Robert A; Rozenberg, Flore; Schmidt, Johanna L; Steindl, Katharina; Tan, Tiong Y; van der Merwe, William G; Vanderver, Adeline; Vassallo, Grace; Wakeling, Emma L; Wassmer, Evangeline; Whittaker, Elizabeth; Livingston, John H; Lebon, Pierre; Suzuki, Tamio; McLaughlin, Paul J; Keegan, Liam P; O'Connell, Mary A; Lovell, Simon C; Crow, Yanick J (2012). Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nature Genetics, 44(11):1243-1248.

Jaureguiberry, Graciana; et al (2012). Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiology, 122(1-2):1-6.

Putoux, Audrey; Nampoothiri, Sheela; Laurent, Nicole; Cormier-Daire, Valérie; Beales, Philip L; Schinzel, Albert; Bartholdi, Deborah; Alby, Caroline; Thomas, Sophie; Elkhartoufi, Nadia; Ichkou, Amale; Litzler, Julie; Munnich, Arnold; Encha-Razavi, Férechté; Kannan, Rajesh; Faivre, Laurence; Boddaert, Nathalie; Rauch, Anita; Vekemans, Michel; Attié-Bitach, Tania (2012). Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics, 49(11):713-720.

Soemedi, Rachel; Topf, Ana; Wilson, Ian J; Darlay, Rebecca; Rahman, Thahira; Glen, Elise; Hall, Darroch; Huang, Ni; Bentham, Jamie; Bhattacharya, Shoumo; Cosgrove, Catherine; Brook, J David; Granados-Riveron, Javier; Setchfield, Kerry; Bu'lock, Frances; Thornborough, Chris; Devriendt, Koenraad; Breckpot, Jeroen; Hofbeck, Michael; Lathrop, Mark; Rauch, Anita; Blue, Gillian M; Winlaw, David S; Hurles, Matthew; Santibanez-Koref, Mauro; Cordell, Heather J; Goodship, Judith A; Keavney, Bernard D (2012). Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Human Molecular Genetics, 21(7):1513-1520.

Rauch, Anita; Wieczorek, Dagmar; Graf, Elisabeth; Wieland, Thomas; Endele, Sabine; Schwarzmayr, Thomas; Albrecht, Beate; Bartholdi, Deborah; Beygo, Jasmin; Di Donato, Nataliya; Dufke, Andreas; Cremer, Kirsten; Hempel, Maja; Horn, Denise; Hoyer, Juliane; Joset, Pascal; Röpke, Albrecht; Moog, Ute; Riess, Angelika; Thiel, Christian T; Tzschach, Andreas; Wiesener, Antje; Wohlleber, Eva; Zweier, Christiane; Ekici, Arif B; Zink, Alexander M; Rump, Andreas; Meisinger, Christa; Grallert, Harald; Sticht, Heinrich; Schenck, Annette; Engels, Hartmut; Rappold, Gudrun; Schröck, Evelin; Wieacker, Peter; Riess, Olaf; Meitinger, Thomas; Reis, André; Strom, Tim M (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet, 380(9854):1674-1682.

Gribouval, Olivier; Morinière, Vincent; Pawtowski, Audrey; Arrondel, Christelle; Sallinen, Satu-Leena; Saloranta, Carola; Clericuzio, Carol; Viot, Géraldine; Tantau, Julia; Blesson, Sophie; Cloarec, Sylvie; Machet, Marie Christine; Chitayat, David; Thauvin, Christelle; Laurent, Nicole; Sampson, Julian R; Bernstein, Jonathan A; Clemenson, Alix; Prieur, Fabienne; Daniel, Laurent; Levy-Mozziconacci, Annie; Lachlan, Katherine; Alessandri, Jean Luc; Cartault, François; Rivière, Jean Pierre; Picard, Nicole; Baumann, Clarisse; Delezoide, Anne Lise; Belar Ortega, Maria; Chassaing, Nicolas; Labrune, Philippe; Yu, Sui; Firth, Helen; Wellesley, Diana; Bitzan, Martin; Alfares, Ahmed; Braverman, Nancy; Krogh, Lotte; Tolmie, John; Gaspar, Harald; Doray, Bérénice; Majore, Silvia; Bonneau, Dominique; Triau, Stéphane; Loirat, Chantal; David, Albert; Bartholdi, Deborah; Peleg, Amir; Brackman, Damien; Stone, Rosario; Deberardinis, Ralph; Corvol, Pierre; Michaud, Annie; Antignac, Corinne; Gubler, Marie Claire (2012). Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation, 33(2):316-326.

Zweier, M; Rauch, A (2012). The MEF2C-related and 5q14.3q15 microdeletion syndrome. Molecular Syndromology, 2(3-5):164-170.

2011

Kosztolányi, G; Brecevic, L; Bajnòczky, K; Schinzel, A; Riegel, M (2011). Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report. European Journal of Medical Genetics, 54(2):152-156.

Abou Jamra, R; Wohlfart, Sigrun; Zweier, Markus; Uebe, Steffen; Priebe, Lutz; Ekici, Arif; Giesebrecht, Susanne; Abboud, Ahmad; Al Khateeb, Mohammed Ayman; Fakher, Mahmoud; Hamdan, Saber; Ismael, Amina; Muhammad, Safia; Nöthen, Markus M; Schumacher, Johannes; Reis, André (2011). Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. European Journal of Human Genetics, 19(11):1161-1166.

Oneda, Beatrice; Crettol, S; Bochud, M; Besson, J; Croquette-Krokar, M; Hämmig, R; Monnat, M; Preisig, M; Eap, C B (2011). β-Arrestin2 influences the response to methadone in opioid-dependent patients. Pharmacogenomics Journal, 11(4):258-266.

Nikisch, Georg; Baumann, Pierre; Oneda, Beatrice; Kiessling, Bernhard; Weisser, Heike; Mathé, Aleksander A; Yoshitake, Takashi; Kehr, Jan; Wiedemann, Georg; Eap, Chin B (2011). Cytochrome P450 and ABCB1 genetics: association with quetiapine and norquetiapine plasma and cerebrospinal fluid concentrations and with clinical response in patients suffering from schizophrenia. A pilot study. Journal of Psychopharmacology, 25(7):896-907.

Dobrinas, M; Cornuz, J; Oneda, Beatrice; Kohler Serra, M; Puhl, M; Eap, C B (2011). Impact of smoking, smoking cessation, and genetic polymorphisms on CYP1A2 activity and inducibility. Clinical Pharmacology and Therapeutics, 90(1):117-125.

Hofmann, K; Becker, Jutta; Heller, R; Boute, O; Andrieux, J; Hoyer, J; Ekici, A B; Reis, A; Rauch, A (2011). 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). European Journal of Medical Genetics, 54(5):e495-e500.

Schinzel, Albert (2011). Achados clínicos em pacientesw com aberrações cromossômicas autossômicas. In: Weidner Maluf, Sharbel; Riegel, Mariluce. Citogenética Humana. Porto Alegre: Artmed, 317-325.

Kalay, E; et al; Rauch, A (2011). CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics, 43(1):23-26.

Steiner, B; Rosendahl, J; Witt, H; Teich, N; Keim, V; Schulz, H U; Pfützer, R; Lühr, M; Gress, T M; Nickel, R; Landt, O; Koudova, M; Macek, M; Farre, A; Casals, T; Desax, M C; Gallati, S; Gomez-Lira, M; Audrezet, M P; Férec, C; des Georges, M; Claustres, M; Truninger, K (2011). Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. Human Mutation, 32(8):912-920.

Hoischen, A; van Bon, B W M; Rodríguez-Santiago, B; Gilissen, C; Vissers, L E L M; de Vries, P; Janssen, I; van Lier, B; Hastings, R; Smithson, S F; Newbury-Ecob, R; Kjaergaard, S; Goodship, J; McGowan, R; Bartholdi, D; Rauch, A; Peippo, M; Cobben, J M; Wieczorek, D; Gillessen-Kaesbach, G; Veltman, J A; Brunner, H G; de Vries, B B B A (2011). De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics, 43(8):729-731.

Kretz, R; Bozorgmehr, B; Kariminejad, M H; Rohrbach, M; Hausser, I; Baumer, A; Baumgartner, M; Giunta, C; Kariminejad, A; Häberle, J (2011). Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Journal of Inherited Metabolic Disease, 34(3):731-739.

Yakut, S; Simsek, M; Pestereli, H E; Baumer, A; Luleci, G; Schinzel, A (2011). Del (18p) syndrome with increased nuchal translucency revealed in prenatal diagnosis. Genetic Counseling, 22(3):317-319.

Kraft, M; Cirstea, I C; Voss, A K; Thomas, T; Goehring, I; Sheikh, B N; Gordon, L; Scott, H; Smyth, G K; Ahmadian, M R; Trautmann, U; Zenker, M; Tartaglia, M; Ekici, A; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. Journal of Clinical Investigation, 121(9):3479-3491.

Gregor, A; Albrecht, B; Bader, I; Bijlsma, E K; Ekici, A B; Engels, H; Hackmann, K; Horn, D; Hoyer, J; Klapecki, J; Kohlhase, J; Maystadt, I; Nagl, S; Prott, E; Tinschert, S; Ullmann, R; Wohlleber, E; Woods, G; Reis, A; Rauch, A; Zweier, C (2011). Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Medical Genetics, 12:106.

Zahnleiter, D; Trautmann, U; Ekici, A B; Goehring, I; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. European Journal of Medical Genetics, 54(5):e521-e524.

Templin, C; Ghadri, J R; Rougier, J S; Baumer, A; Kaplan, V; Albesa, M; Sticht, H; Rauch, A; Puleo, C; Hu, D; Barajas-Martinez, H; Antzelevitch, C; Lüscher, T F; Abriel, H; Duru, F (2011). Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9):1077-1088.

Busche, A; Graul-Neumann, L M; Zweier, C; Rauch, A; Klopocki, E; Horn, D (2011). Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. European Journal of Medical Genetics, 54(3):256-261.

Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; et al; Fernández-Aranda, Fernando (2011). Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature, 478(7367):97-102.

Thiel, C; Kessler, K; Giessl, A; Dimmler, A; Shalev, S A; von der Haar, S; Zenker, M; Zahnleiter, D; Stöss, H; Beinder, E; Abou Jamra, R; Ekici, A; Schröder-Kress, N; Aigner, T; Kirchner, T; Reis, A; Brandstätter, J H; Rauch, A (2011). NEK1 mutations cause short-rib polydactyly syndrome type majewski. American Journal of Human Genetics, 88(1):106-14.

Odak, L; Barisić, I; Morozin Pohovski, L; Riegel, M; Schinzel, A (2011). Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report. Croatian Medical Journal, 52(3):415-22.

Kariminejad, A; Kariminejad, R; Moshtagh, A; Zanganeh, M; Kariminejad, M H; Neuenschwander, S; Okoniewski, M; Wey, E; Schinzel, A; Baumer, A (2011). Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. European Journal of Human Genetics, 19(5):555-560.

Kortüm, F; Das, S; Flindt, M; Morris-Rosendahl, D J; Stefanova, I; Goldstein, A; Horn, D; Klopocki, E; Kluger, G; Martin, P; Rauch, A; Roumer, A; Saitta, S; Walsh, L E; Wieczorek, D; Uyanik, G; Kutsche, K; Dobyns, W B (2011). The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics, 48(6):396-406.

Holman, S K; Daniel, P; Jenkins, Z A; Herron, R L; Morgan, T; Savarirayan, R; Chow, C W; Bohring, A; Mosel, A; Lacombe, D; Steiner, B; Schmitt-Mechelke, T; Schroter, B; Raas-Rothschild, A; Miñaur, S G; Porteous, M; Parker, M; Quarrell, O; Tapon, D; Cormier-Daire, V; Mansour, S; Nash, R; Bindoff, L A; Fiskerstrand, T; Robertson, S P (2011). The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A, 155(10):2397-2408.

Thiel, C T; Rauch, A (2011). The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum. Best Practice & Research: Clinical Endocrinology & Metabolism, 25(1):131-142.

Rauch, A (2011). The shortest of the short: Pericentrin mutations and beyond. Best Practice & Research: Clinical Endocrinology & Metabolism, 25(1):125-130.

Kantaputra, P; Tanpaiboon, P; Porntaveetus, T; Ohazama, A; Sharpe, P; Rauch, A; Hussadaloy, A; Thiel, C T (2011). The smallest teeth in the world are caused by mutations in the PCNT gene. American Journal of Medical Genetics. Part A, 155(6):1398-1403.

2010

Steindl, Katharina; Alazami, A M; Bhatia, K P; Wuerfel, J T; Petersen, D; Cartolari, R; Neri, G; Klein, C; Mongiardo, B; Alkuraya, F S; Schneider, S A (2010). A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clinical Genetics, 78(6):594-597.

Alazami, A M; Schneider, S A; Bonneau, D; Pasquier, L; Carecchio, M; Kojovic, M; Steindl, Katharina; de Kerdanet, M; Nezarati, M M; Bhatia, K P; Degos, B; Goh, E; Alkuraya, F S (2010). C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Clinical Genetics, 78(6):585-590.

Oneda, Beatrice; Preisig, M; Dobrinas, M; Eap, C B (2010). Lack of association between genetic polymorphisms of ARRB2 and alcohol dependence in a Caucasian population. Alcohol and Alcoholism, 45(6):590-591.

Poloschek, C M; Bach, M; Lagrèze, W A; Glaus, E; Lemke, J R; Berger, W; Neidhardt, J (2010). ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative Ophthalmology and Visual Science, 51(8):4253-4265.

Zeisberger, S M; Zoller, S; Riegel, M; Chen, S; Krenning, G; Harmsen, M C; Sachinidis, A; Zisch, A H (2010). Optimization of the culturing conditions of human umbilical cord blood-derived endothelial colony-forming cells under xeno-free conditions applying a transcriptomic approach. Genes to Cells, 15(7):671-687.

Rauch, R; Hofbeck, M; Zweier, C; Koch, A; Zink, S; Trautmann, U; Hoyer, J; Kaulitz, R; Singer, H; Rauch, A (2010). Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of Medical Genetics, 47(5):321-331.

Moreira, L; Schinzel, A; Baumer, A; Pinto, P; Góes, F; de Lourdes Falcao, M; Barbosa, A L; Riegel, M (2010). Erratum to “Longitudinal Observation of a Patient With Rieger Syndrome and Interstitial Deletion 4 (q25-q31.1)” [Am J Med Genet Part A 152A:977-981]. American Journal of Medical Genetics. Part A, 152A(6):1602-1603.

Shimomura, Y; Agalliu, D; Vonica, A; Luria, V; Wajid, M; Baumer, A; Belli, S; Petukhova, L; Schinzel, A; Brivanlou, A H; Barres, B A; Christiano, A M (2010). APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature Medicine, 464(7291):1043-1047.

Moreira, L; Schinzel, A; Baumer, A; Pinto, P; Góes, F; de Lourdes Falcão, M; Barbosa, A L; Riegel, M (2010). Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1). American Journal of Medical Genetics. Part A, 152A(4):977-981.

Göhring, I; Tagariello, A; Endele, S; Stolt, C C; Ghassibé, M; Fisher, M; Thiel, C T; Trautmann, U; Vikkula, M; Winterpacht, A; FitzPatrick, D R; Rauch, A (2010). Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies. Journal of Medical Genetics, 47(2):91-98.

Steiner, B; Bartholdi, D (2010). Medizinische Genetik: Geld, Geist und Gene. Swiss Medical Forum, 10(1-2):8-10.

Smigiel, R; Szafranska, A; Czyzewska, M; Rauch, A; Zweier, C; Patkowski, D (2010). Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. Journal of Applied Genetics:1-3.

Minder, E I; Schneider-Yin, X; Mamet, R; Horev, L; Neuenschwander, S; Baumer, A; Austerlitz, F; Puy, H; Schoenfeld, N (2010). A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. Journal of the European Academy of Dermatology and Venereology, 24(11):1349-1353.

Orrico, A; Galli, L; Faivre, L; Clayton-Smith, J; Azzarello-Burri, S M; Hertz, J M; Jacquemont, S; Taurisano, R; Arroyo Carrera, I; Tarantino, E; Devriendt, K; Melis, D; Thelle, T; Meinhardt, U; Sorrentino, V (2010). Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of theFGD1gene. American Journal of Medical Genetics. Part A, 152A(2):313-318.

Renard, M; Holm, T; Regan, V; Callewaert, B L; Adès, L C; Baspinar, O; Pickart, A; Dasouki, M; Hoyer, J; Rauch, A; Trapane, P; Earing, M G; Coucke, P J; Sakai, L Y; Dietz, H C; De Paepe, A M; Loeys, B L (2010). Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. European Journal of Human Genetics, 18(8):895-901.

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Media Diverticulum. Molecular Syndromology:99-112.

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Isidor, B; Pichon, O; Redon, R; Day-Salvatore, D; Hamel, A; Siwicka, K A; Bitner-Glindzicz, M; Heymann, D; Kjellén, L; Kraus, C; Leroy, J G; Mortier, G R; Rauch, A; Verloes, A; David, A; Le Caignec, C (2010). Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. American Journal of Human Genetics, 87(1):95-100.

Sharp, A J; Migliavacca, E; Dupre, Y; Stathaki, E; Sailani, M R; Baumer, A; Schinzel, A; Mackay, D J; Robinson, D O; Cobellis, G; Cobellis, L; Brunner, H G; Steiner, B; Antonarakis, S E (2010). Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research, 20(9):1271-1278.

Johnston, J J; Sapp, J C; Turner, J T; et al; Stephan, M J (2010). Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Human Mutation, 31(10):1142-1154.

Semenov, O V; Koestenbauer, S; Riegel, M; Zech, N; Zimmermann, R; Zisch, A; Malek, A (2010). Multipotent mesenchymal stem cells from human placenta: critical parameters for isolation and maintenance of stemness after isolation. American Journal of Obstetrics and Gynecology, 202(2):193.e1-193.e13.

Endele, S; Rosenberger, G; Geider, K; Popp, B; Tamer, C; Stefanova, I; Milh, M; Kortüm, F; Fritsch, A; Pientka, F K; Hellenbroich, Y; Kalscheuer, V M; Kohlhase, J; Moog, U; Rappold, G; Rauch, A; Ropers, H H; von Spiczak, S; Tönnies, H; Villeneuve, N; Villard, L; Zabel, B; Zenker, M; Laube, B; Reis, A; Wieczorek, D; Van Maldergem, L; Kutsche, K (2010). Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nature Genetics, 42(11):1021-1026.

Zweier, M; Rauch, A; et al (2010). Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human Mutation, 31(6):722-733.

von Kanel, T; Gerber, D; Schaller, A; Baumer, A; Wey, E; Jackson, C B; Gisler, F M; Heinimann, K; Gallati, S (2010). Quantitative 1-step DNA methylation analysis with native genomic DNA as template. Clinical Chemistry, 56(7):1098-1106.

Griffin, H R; Töpf, A; Glen, E; Zweier, C; Stuart, A G; Parsons, J; Peart, I; Deanfield, J; O'Sullivan, J; Rauch, A; Scambler, P; Burn, J; Cordell, H J; Keavney, B; Goodship, J A (2010). Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart, 96(20):1651-1655.

Allanson, J E; Bohring, A; Dörr, H G; Dufke, A; Gillessen-Kaesbach, G; Horn, D; König, R; Kratz, C P; Kutsche, K; Pauli, S; Raskin, S; Rauch, A; Turner, A; Wieczorek, D; Zenker, M (2010). The face of Noonan syndrome: Does phenotype predict genotype. American Journal of Medical Genetics. Part A, 152A(8):1960-1966.

Makarov, R; Steiner, B; Gucev, Z; Tasic, V; Wieacker, P; Wieland, I (2010). The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. BMC Medical Genetics, 11:98.

Rauch, A (2010). Editorial. Molecular Syndromology, 1(1):1.

2009

Vandewalle, J; Van Esch, H; Govaerts, K; Verbeeck, J; Zweier, C; Madrigal, I; Mila, M; Pijkels, E; Fernandez, I; Kohlhase, J; Spaich, C; Rauch, A; Fryns, J P; Marynen, P; Froyen, G (2009). Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. American Journal of Human Genetics, 85(6):809-822.

Zweier, C; de Jong, E K; Zweier, M; Oricco, A; Ousager, L B; Collins, A L; Bijlsma, E K; Oortveld, M A W; Ekici, A B; Reis, A; Schenck, A; Rauch, A (2009). CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. American Journal of Human Genetics, 85(5):655-666.

Lyle, R; Béna, F; Gagos, Sarantis; Gehrig, C; Lopez, G; Schinzel, A; Lespinasse, J; Bottani, A; Dahoun, S; Taine, L; Doco-Fenzy, M; Cornillet-Lefèbvre, P; Pelet, A; Lyonnet, S; Toutain, A; Colleaux, L; Horst, J; Kennerknecht, I; Wakamatsu, N; Descartes, M; Franklin, J C; Florentin-Arar, L; Kitsiou, S; Yahya-Graison, E A; Costantine, M; Sinet, P M; Delabar, J M; Antonarakis, S E (2009). Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. European Journal of Human Genetics, 17(4):454-466.

Lemke, J R; Beck-Wödl, S; Zankl, A; Riegel, M; Krämer, G; Dorn, T (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? Seizure - European Journal of Epilepsy, 18(9):660-663.

Oneda, Beatrice; Crettol, Severine; Jaquenoud Sirot, Evelyne; Bochud, Murielle; Ansermot, Nicolas; Eap, Chin B (2009). The P450 oxidoreductase genotype is associated with CYP3A activity in vivo as measured by the midazolam phenotyping test. Pharmacogenetics and Genomics, 19(11):877-883.

Segel, R; Levy-Lahad, E; Pasutto, F; Picard, E; Rauch, A; Alterescu, G; Schimmel, M S (2009). Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? American Journal of Medical Genetics. Part A, 149A(11):2457-2463.

Valencia, M; Lapunzina, P; Lim, D; Zannolli, R; Bartholdi, D; Wollnik, B; Al-Ajlouni, O; Eid, S S; Cox, H; Buoni, S; Hayek, J; Martinez-Frias, M L; Perez-Aytes, A; Temtamy, S; Aglan, M; Goodship, J A; Ruiz-Perez, V L (2009). Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Human Mutation, 30(12):1667-1675.

Kleefstra, T; van Zelst-Stams, W A; Nillesen, W M; Cormier-Daire, V; Houge, G; Foulds, N; van Dooren, M; Willemsen, M H; Pfundt, R; Turner, A; Wilson, M; McGaughran, J; Rauch, A; Zenker, M; Adam, M P; Innes, M; Davies, C; González-Meneses López, A; Casalone, R; Weber, A; Brueton, L A; Delicado Navarro, A; Palomares Bralo, M; Venselaar, H; Stegmann, S P A; Yntema, H G; van Bokhoven, H; Brunner, H G (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46(9):598-606.

Hoyer, J; Kraus, C; Hammersen, G; Geppert, J P; Rauch, A (2009). Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation. Clinical Genetics, 76(3):276-281.

Türkkani-Asal, G; Alanay, Y; Turul-Özgür, T; Zenker, M; Thiel, C; Rauch, A; Ünal, Ş; Gürgey, A; Tezcan, I (2009). Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. Turkish Journal of Pediatrics, 51(5):493-496.

Cordeddu, V; et al (2009). Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nature Genetics, 41(9):1022-1026.

Jaquenoud Sirot, Eveline; Knezevic, Branka; Morena, Gina Perla; Harenberg, Sabine; Oneda, Beatrice; Crettol, Severine; Ansermot, Nicolas; Baumann, Pierre; Eap, Chin B (2009). ABCB1 and cytochrome P450 polymorphisms: clinical pharmacogenetics of clozapine. Journal of Clinical Psychopharmacology, 29(4):319-326.

Thiel, C; Wilken, M; Zenker, M; Sticht, H; Fahsold, R; Gusek-Schneider, G C; Rauch, A (2009). Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. American Journal of Medical Genetics. Part A, 149A(6):1263-1267.

Tibelius, A; Marhold, J; Zentgraf, H; Heilig, C E; Neitzel, H; Ducommun, B; Rauch, A; Ho, A D; Bartek, J; Krämer, A (2009). Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. Journal of Cell Biology, 185(7):1149-1157.

Banerjee, S; Oneda, Beatrice; Yap, L M; Jewell, D P; Matters, G L; Fitzpatrick, L R; Seibold, F; Sterchi, E E; Ahmad, T; Lottaz, D; Bond, J S (2009). MEP1A allele for meprin A metalloprotease is a susceptibility gene for inflammatory bowel disease. Mucosal Immunology, 2(3):220-231.

Hilton, E; Johnston, J; Whalen, S; Okamoto, N; Hatsukawa, Y; Nishio, J; Kohara, H; Hirano, Y; Mizuno, S; Torii, C; Kosaki, K; Manouvrier, S; Boute, O; Perveen, R; Law, C; Moore, A; Fitzpatrick, D; Lemke, J; Fellmann, F; Debray, F G; Dastot-Le-Moal, F; Gerard, M; Martin, J; Bitoun, P; Goossens, M; Verloes, A; Schinzel, A; Bartholdi, D; Bardakjian, T; Hay, B; Jenny, K; Johnston, K; Lyons, M; Belmont, J W; Biesecker, L G; Giurgea, I; Black, G (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17(10):1325-1335.

Niedrist, D; Joncourt, F; Matyas, G; Müller, A (2009). Severe phenotype with cis-acting heterozygous PMP22 mutations. Clinical Genetics, 75(3):286-289.

Harmsen, M B; Azzarello-Burri, S; García Gonzalez, M M; Gillessen-Kaesbach, G; Meinecke, P; Müller, D; Rauch, A; Rossier, E; Seemanova, E; Spaich, C; Steiner, B; Wieczorek, D; Zenker, M; Kutsche, K (2009). Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. European Journal of Human Genetics, 17(10):1207-1215.

Niedrist, D; Lurie, I W; Schinzel, A (2009). 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation. European Journal of Human Genetics, 17(8):1086-1091.

Engels, H; Wohlleber, E; Zink, A; Hoyer, J; Ludwig, K U; Brockschmidt, F F; Wieczorek, D; Moog, U; Hellmann-Mersch, B; Weber, R G; Willatt, L; Kreiss-Nachtsheim, M; Firth, H V; Rauch, A (2009). A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. European Journal of Human Genetics, 17(12):1592-9.

Bartholdi, D; Krajewska-Walasek, M; Ounap, K; Gaspar, H; Chrzanowska, K H; Ilyana, H; Kayserili, H; Lurie, I W; Schinzel, A; Baumer, A (2009). Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Journal of Medical Genetics, 46(3):192-197.

Paskulin, Giorgio A; Riegel, Mariluce; Cotter, Philip D; Kiss, Andrea; Rosa, Rafael F M; Zen, Paulo R G; Mombach, Rômulo; Graziadio, Carla (2009). Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome. American Journal of Medical Genetics. Part A, 149A(6):1302-1307.

Paskulin, G A; Riegel, M; Cotter, P D; Kiss, A; Rosa, R F M; Zen, P R G; Mombach, R; Graziadio, C (2009). Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome. American Journal of Medical Genetics Part A, 149A(6):1302-1307.

Bernier-Latmani, J; Baumer, A; Shaw, P (2009). No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation. PLoS ONE, 4(8):e6631.

Eberle, P; Berger, C; Junge, S; Dougoud, S; Valsangiacomo Büchel, Emanuela R; Riegel, M; Schinzel, A; Seger, R; Güngör, T (2009). Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. Clinical and Experimental Immunology, 155(2):189-198.

Schinzel, A (2009). Syndrome diagnosis on the ward The difficulty to classify complex dysmorphic syndromes on the ward. European Journal of Human Genetics, 17(11):1525.

2008

Ambort, Daniel; Stalder, Daniel; Lottaz, Daniel; Huguenin, Maya; Oneda, Beatrice; Heller, Manfred; Sterchi, Erwin E (2008). A novel 2D-based approach to the discovery of candidate substrates for the metalloendopeptidase meprin. FEBS Journal, 275(18):4490-509.

Gex-Fabry, Marianne; Eap, Chin B; Oneda, Beatrice; Gervasoni, Nicola; Aubry, Jean-Michel; Bondolfi, Guido; Bertschy, Gilles (2008). CYP2D6 and ABCB1 genetic variability: influence on paroxetine plasma level and therapeutic response. Therapeutic drug monitoring, 30(4):474-82.

Oneda, Beatrice; Lods, Nadège; Lottaz, Daniel; Becker-Pauly, Christoph; Stöcker, Walter; Pippin, Jeffrey; Huguenin, Maya; Ambort, Daniel; Marti, Hans-Peter; Sterchi, Erwin E (2008). Metalloprotease meprin beta in rat kidney: glomerular localization and differential expression in glomerulonephritis. PLoS ONE, 3(5):e2278.

Kos, S; Roth, K; Korinth, D; Zeilinger, G; Eich, G (2008). Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. Pediatric Radiology, 38(8):902-906.

Huguenin, Maya; Müller, Eliane J; Trachsel-Rösmann, Sandra; Oneda, Beatrice; Ambort, Daniel; Sterchi, Erwin E; Lottaz, Daniel (2008). The metalloprotease meprinbeta processes E-cadherin and weakens intercellular adhesion. PLoS ONE, 3(5):e2153.

Bartholdi, D; Toelle, S P; Steiner, B; Boltshauser, E; Schinzel, A; Riegel, M (2008). Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. European Journal of Medical Genetics, 51(2):113-123.

Unger, S; Böhm, D; Kaiser, F J; Kaulfuss, S; Borozdin, W; Buiting, K; Burfeind, P; Böhm, J; Barrionuevo, F; Craig, A; Borowski, K; Keppler-Noreuil, K; Schmitt-Mechelke, T; Steiner, B; Bartholdi, D; Lemke, J; Mortier, G; Sandford, R; Zabel, B; Superti-Furga, A; Kohlhase, J (2008). Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genetics, 40(3):287-289.

Kyburz, A; Bauersfeld, U; Schinzel, A; Riegel, M; Hug, M; Tomaske, M; Valsangiacomo Büchel, Emanuela R (2008). The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome. Pediatric Cardiology, 29(1):76-83.

Acta Medica Lithuanica. Edited by: Schinzel, A (2008). Vilnius, Lithuania: Lithuanian Academy of Sciences Publishers.

Witsch-Baumgartner, M; Schwentner, I; Gruber, M; Benlian, P; Bertranpetit, J; Bieth, E; Chevy, F; Clusellas, N; Estivill, X; Gasparini, G; Giros, M; Kelley, R I; Krajewska-Walasek, M; Menzel, J; Miettinen, T; Ogorelkova, M; Rossi, M; Scala, I; Schinzel, A; Schmidt, K; Schönitzer, D; Seemanova, E; Sperling, K; Syrrou, M; Talmud, P J; Wollnik, B; Krawczak, M; Labuda, D; Utermann, G (2008). Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Journal of Medical Genetics, 45(4):200-209.

Badertscher, A; Bauersfeld, U; Arbenz, U; Baumgartner, M R; Schinzel, A; Balmer, C (2008). Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatrica, 97(11):1523-1528.

Tzschach, A; Chen, W; Erdogan, F; Hoeller, A; Ropers, H H; Castellan, Claudio; Ullmann, R; Schinzel, A (2008). Characterization of interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics. Part A, 146A(2):197-203.

Tyshchenko, N; Lurie, I; Schinzel, A (2008). Chromosomal map of human brain malformations. Human genetics, 124(1):73-80.

Schinzel, A (2008). Chromosomes came first: first years of human chromosomes. The beginnings of human cytogenetics. European Journal of Human Genetics, 16(6):766-767.

Gaspar, H; Albermann, K; Baumer, A; Schinzel, A (2008). Clinical delineation of Giuffrè-Tsukahara syndrome: another case with microcephaly and radio-ulnar synostosis with apparent X-linked semi-dominant inheritance. American Journal of Medical Genetics. Part A, 146A(11):1453-1457.

Schinzel, A (2008). Congenital malformations. European Journal of Human Genetics, 16:274.

Rossi, E; Riegel, M; Messa, J; Gimelli, S; Maraschio, P; Ciccone, R; Stroppi, M; Riva, P; Perrotta, C S; Mattina, T; Memo, L; Baumer, A; Kucinskas, V; Castellan, C; Schinzel, A; Zuffardi, O (2008). Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. Journal of Medical Genetics, 45(3):147-54.

Egyptian Medical Journal of the National Research Center, MJNRC. Edited by: Schinzel, Albert (2008). Cairo: Academy of Scientific Research and Technology.

Bartholdi, D. Epigenetic etiology of rare, complex syndromes: The examples of Rett, Rubinstein-Taybi and Prader-Willi syndrome. 2008, University of Zurich, Faculty of Medicine.

Expert Reviews in Molecular Medicine. Edited by: Schinzel, A (2008). Cambridge, UK: Cambridge University Press.

Poretti, A; Bartholdi, D; Gobara, S; Alber, F D; Boltshauser, E (2008). Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. European Journal of Medical Genetics, 51(3):197-208.

Zeitz, C; Gross, A K; Leifert, D; Kloeckener-Gruissem, B; McAlear, S D; Lemke, J; Neidhardt, G; Berger, W (2008). Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Investigative Ophthalmology and Visual Science, 49(9):4105-4114.

Tyshchenko, Nataliya. Identification of candidate loci for congenital brain defects with the help of unbalanced chromosome aberrations. 2008, University of Zurich, Faculty of Medicine.

Koolen, D A; Sistermans, E A; Nilessen, W; Knight, S J L; Regan, R; Liu, Y T; Kooy, R F; Rooms, L; Romano, C; Fichera, M; Schinzel, A; Baumer, A; Anderlid, B M; Schoumans, J; van Kessel, A G; Nordenskjold, M; de Vries, B B A (2008). Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. European Journal of Human Genetics, 16(3):395-400.

Journal of Human Genetics. Edited by: Schinzel, A (2008). Japan: Springer.

Zech, N H; Wisser, J; Natalucci, G; Riegel, M; Baumer, A; Schinzel, A (2008). Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygote. Prenatal Diagnosis, 28(8):759-763.

Schulz, A L; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, C A; Korenke, G C; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M (2008). Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clinical Genetics, 73(1):62-70.

Prenatal Diagnosis. Edited by: Schinzel, A (2008). United Kingdom: Wiley.

Fricker, T. Retrospektive Analyse von Patienten mit diagnostisch/therapeutischer Hodenbiopsie bei klinisch nicht obstruktiver Azoospermie einschliessend Analyse auf Y-Chromosom-Mikrodeletionen. 2008, University of Zurich, Faculty of Medicine.

Manvelyan, Marina; Riegel, Mariluce; Santos, Monica; Fuster, Carme; Pellestor, Franck; Mazaurik, Marie-Luise; Schulze, Bernt; Polityko, Anna; Tittelbach, Hanne; Reising-Ackermann, Gisela; Belitz, Britta; Hehr, Ute; Kelbova, Christina; Volleth, Marianne; Gödde, Elisabeth; Anderson, Jasen; Küpferling, Peter; Köhler, Sigrid; Duba, Hans-Christoph; Dufke, Andreas; Aktas, Dilek; Martin, Thomas; Schreyer, Isolde; Ewers, Elisabeth; Reich, Daniela; Mrasek, Kristin; Weise, Anja; Liehr, Thomas (2008). Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. International Journal of Molecular Medicine, 21(6):705-714.

Turkish journal of medical science. Edited by: Schinzel, A (2008). Ankara, Turkey: Türkiye Klinikleri Publishing House.

2007

Ceylaner, Gülay; Ceylaner, Serdar; Danişman, Nuri; Ergün, Ali; Ekici, Eyüp; Schinzel, Albert; Baumer Wolz, Alessandra (2007). Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): a case report. Prenatal Diagnosis, 27(11):1072-1074.

Bartholdi, Deborah; Roelfsema, Jeroen H; Papadia, Francesco; Breuning, Martijn H; Niedrist, Dunja; Hennekam, Raoul C; Schinzel, Albert; Peters, Dorien J M (2007). Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. Journal of Medical Genetics, 44(5):327-333.

Niedrist, Dunja (2007). Ohne X geht nix. Praxis, 96(12):463-464.

Rochat, Mascha K; Riegel, Mariluce; Schinzel, Albert (2007). Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review. American Journal of Medical Genetics. Part A, 143(4):399-408.

Majava, Marja; Hoornaert, Kristien P; Bartholdi, Deborah; Bouma, Mieke C; Bouman, Katelijne; Carrera, Marta; Devriendt, Koenraad; Hurst, Jane; Kitsos, George; Niedrist, Dunja; Petersen, Michael B; Shears, Debbie; Stolte-Dijkstra, Irene; Van Hagen, J M; Ala-Kokko, Leena; Männikkö, Minna; Mortier, Geert R (2007). A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. American Journal of Medical Genetics. Part A, 143A(3):258-264.

Patzelt, Felix; Riegel, Markus; Ernst, Udo; Pawelzik, Klaus (2007). Self-organized critical noise amplification in human closed loop control. Frontiers in Computational Neuroscience, 1:4.

2006

Tyshchenko, Nataliya A; Riegel, Mariluce; Evseenkova, Elena G; Zerova, Tatjana E; Gorovenko, Nataliya G; Schinzel, Albert (2006). Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations. European Journal of Medical Genetics, 50(2):128-32.

Kniestedt, Christoph; Taralczak, Malgorzata; Thiel, Michael A; Stuermer, Joerg; Baumer Wolz, Alessandra; Gloor, Balder P (2006). A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. Ophthalmology, 113(10):1791.e1-1797.e2.

Borozdin, Wiktor; Bravo Ferrer Acosta, Ana M; Bamshad, Michael J; Botzenhart, Elke M; Froster, Ursula G; Lemke, Johannes R; Schinzel, Albert; Spranger, Stephanie; McGaughran, Julie; Wand, Dorothea; Chrzanowska, Krystyna h; Kohlhase, Jürgen (2006). Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Human Mutation, 27(9):975-976.

Koolen, David A; Vissers, Lisenka E L M; Pfundt, Rolph; de Leeuw, Nicole; Knight, Samantha J L; Regan, Regina; Kooy, R Frank; Reyniers, Edwin; Romano, Corrado; Fichera, Marco; Schinzel, Albert; Baumer Wolz, Alessandra; Anderlid, Britt-Marie; Schoumans, Jacqueline; Knoers, Nine V; van Kessel, Ad Geurts; Sistermans, Erik A; Veltman, Joris A; Brunner, Han G; de Vries, Bert B A (2006). A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics, 38(9):999-1001.

Utermann, Barbara; Riegel, Mariluce; Leistritz, Dru; Karall, Thomas; Wisser, Josef; Meisner, Lorraine; Fauth, Christine; Baldinger, Rosa; Johnson, Julie; Erdel, Martin; Taralczak, Malgorzata; Pauli, Richard M; Baumer Wolz, Alessandra; Schinzel, Albert; Kotzot, Dieter (2006). Pre- and postnatal findings in trisomy 17 mosaicism. American Journal of Medical Genetics. Part A, 140(15):1628-1636.

Niedrist, Dunja; Riegel, M; Achermann, J; Schinzel, Albert (2006). Survival with trisomy 18--data from Switzerland. American Journal of Medical Genetics. Part A, 140(9):952-959.

Gaspar, Harald; Michel-Calemard, Laurence; Morel, Yves; Wisser, Josef; Stallmach, Thomas; Schinzel, Albert (2006). Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) without DNA from an index patient in a current pregnancy. Prenatal Diagnosis, 26(4):392-393.

Williams, Charles A; Beaudet, Arthur L; Clayton-Smith, Jill; Knoll, Joan H; Kyllerman, Martin; Laan, Laura A; Magenis, R Ellen; Moncla, Ann; Schinzel, Albert; Summers, Jane A; Wagstaff, Joseph (2006). Angelman syndrome 2005: updated consensus for diagnostic criteria. American Journal of Medical Genetics. Part A, 140(5):413-418.

Riegel, Mariluce; Wisser, Josef; Baumer Wolz, Alessandra; Schinzel, Albert (2006). Postzygotic isochromosome formation as a cause for false-negative results from chorionic villus chromosome examinations. Prenatal Diagnosis, 26(3):221-225.

Lecce, Rosetta; Murdolo, Marina; Gelli, Gianfranco; Steindl, Katharina; Coppola, Livia; Romano, Anna; Cupelli, Elisa; Neri, Giovanni; Zollino, Marcella (2006). The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12. Human Genetics, 118(6):760-766.

Baumgartner, C; Mátyás, G; Steinmann, B; Eberle, M; Stein, J I; Baumgartner, D (2006). A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. Journal of Biomedical Informatics, 39(2):171-183.

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Santos, Regie Lyn P; Häfner, Franziska M; Huygen, Patrick L M; Linder, Thomas E; Schinzel, Albert; Spillmann, Thomas; Leal, Suzanne M (2006). Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiology and Neurotology, 11(5):269-275.

Niedrist, D; Riegel, M; Achermann, J; Rousson, V; Schinzel, A (2006). Trisomy 18: changes in sex ratio during intrauterine life. American Journal of Medical Genetics. Part A, 140(21):2365-2367.

2005

Vermeesch, Joris Robert; Melotte, Cindy; Salden, Ivo; Riegel, Mariluce; Trifnov, Vladimir; Polityko, Anna; Rumyantseva, Natalia; Naumchik, Irina; Starke, Heike; Matthijs, Gert; Schinzel, Albert; Fryns, Jean-Pierre; Liehr, Thomas (2005). Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. European Journal of Medical Genetics, 48(3):319-327.

Riegel, Mariluce; Baumer Wolz, Alessandra; Süss, Jochen; Schinzel, Albert (2005). An unusual reciprocal translocation detected by subtelomeric FISH: interstitial and not terminal. American Journal of Medical Genetics. Part A, 135(1):86-90.

Descipio, Cheryl; Schneider, Lori; Young, Terri L; et al; Schinzel, Albert A G L (2005). Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. American Journal of Medical Genetics. Part A, 134A(1):3-11.

Roelfsema, Jeroen H; White, Stefan J; Ariyürek, Yavuz; Bartholdi, Deborah; Niedrist, Dunja; Papadia, Francesco; Bacino, Carlos A; den Dunnen, Johan T; van Ommen, Gert-Jan B; Breuning, Martijn H; Hennekam, Raoul C; Peters, Dorien J M (2005). Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. American Journal of Human Genetics, 76(4):572-80.

So, Joyce; Suckow, Vanessa; Kijas, Zofia; et al; Schinzel, Albert (2005). Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics. Part A, 132A(1):1-7.

2004

Wey, Eva; Bartholdi, Deborah; Riegel, Mariluce; Nazlican, Hülya; Horsthemke, Bernhard; Schinzel, Albert; Baumer Wolz, Alessandra (2004). Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. European Journal of Human Genetics, 13(3):273-277.

Hernandez, Rafael E; Rikhof, Holly A; Bachmann-Gagescu, Ruxandra; Moens, Cecilia B (2004). vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish. Development, 131(18):4511-4520.

Hennies, Hans Christian; Rauch, Anita; Seifert, Wenke; Schumi, Christian; Moser, Elisabeth; Al-Taji, Eva; Tariverdian, Gholamali; Chrzanowska, Krystyna h; Krajewska-Walasek, Malgorzata; Rajab, Anna; Giugliani, Roberto; Neumann, Thomas e; Eckl, Katja m; Karbasiyan, Mohsen; Reis, André; Horn, Denise (2004). Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. American Journal of Human Genetics, 75(1):138-145.

Zankl, Andreas; Brooks, Daniela; Boltshauser, Eugen; Largo, Remo; Schinzel, Albert (2004). Natural history of twin disruption sequence. American Journal of Medical Genetics. Part A, 127A(2):133-138.

Zankl, Andreas; Scheffer, H; Schinzel, Albert (2004). Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity? American Journal of Medical Genetics. Part A, 127A(1):74-80.

Hübner, Christian A; Utermann, Barbara; Tinschert, Sigrid; Krüger, Gabriele; Ressler, Bernadette; Steglich, Cordula; Schinzel, Albert; Galli, Andreas (2004). Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. Human Mutation, 23(5):526.

Zenker, Martin; Rauch, Anita; Winterpacht, Andreas; Tagariello, Andreas; Kraus, Cornelia; Rupprecht, Thomas; Sticht, Heinrich; Reis, André (2004). A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. American Journal of Human Genetics, 74(4):731-737.

Nazarenko, Sergey; Sazhenova, Elena; Baumer Wolz, Alessandra; Schinzel, Albert (2004). Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome. European Journal of Human Genetics, 12(5):411-414.

Zenker, Martin; Buheitel, Gernot; Rauch, Ralf; Koenig, Rainer; Bosse, Kirstin; Kress, Wolfram; Tietze, Hans-Ulrich; Doerr, Helmuth-Guenther; Hofbeck, Michael; Singer, Helmut; Reis, André; Rauch, Anita (2004). Genotype-phenotype correlations in Noonan syndrome. Journal of Pediatrics, 144(3):368-74.

Bähring, Sylvia; Rauch, Anita; Toka, Okan; Schroeder, Christoph; Hesse, Christiane; Siedler, Heike; Fesüs, Gabor; Haefeli, Walter e; Busjahn, Andreas; Aydin, Atakan; Neuenfeld, Yvette; Mühl, Astrid; Toka, Hakan R; Gollasch, Maik; Jordan, Jens; Luft, Friedrich C (2004). Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. Hypertension, 43(2):471-476.

Rauch, Anita; Hofbeck, Michael; Cesnjevar, Robert; Koch, Andreas; Rauch, Ralf; Buheitel, Gernot; Singer, Helmut; Weyand, Michael (2004). Search for somatic 22q11.2 deletions in patients with conotruncal heart defects. American Journal of Medical Genetics. Part A, 124A(2):165-169.

Horn, Denise; Weschke, Bernhard; Zweier, Christiane; Rauch, Anita (2004). Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. American Journal of Medical Genetics. Part A, 124A(1):102-104.

Khan, Nadia; Schinzel, Albert; Shuknecht, Bernhard; Baumann, Fabian; Østergaard, John R; Yonekawa, Yasuhiro (2004). Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? European Neurology, 51(2):72-77.

2003

Horsthemke, Bernhard; Lich, Christina; Buiting, Karin; Achmann, Roland; Aulehla-Scholz, Christa; Baumer Wolz, Alessandra; Bürger, Joachim; Dworniczak, Bernd; Gläser, Dieter; Holinski-Feder, Elke; Janssen, Bart; Kleinle, Stephanie; Kochhan, Lothar; Krasemann, Ernst; Kraus, Cornelia; Kroisel, Peter; Plendl, Hansjörg; Purmann, Sabine; Sander, Gabriele; Skladny, Heyko; Spitzer, Eva; Thamm-Mücke, Barbara; Varon-Mateeva, Raymonda; Weinhäusel, Andreas; Weirich, Helga (2003). Problems in detecting mosaic DNA methylation in Angelman syndrome. European Journal of Human Genetics, 11(12):913-915.

Rauch, Anita; Beese, Maike; Mayatepek, Ertan; Dörr, Helmut-Günther; Wenzel, Dieter; Reis, André; Trautmann, Udo (2003). A novel 5q35.3 subtelomeric deletion syndrome. American Journal of Medical Genetics. Part A, 121A(1):1-8.

Piram, Adriana; Ortolan, Daniela; Peres, Luis Cesar; Pina-Neto, João Monteiro; Riegel, Mariluce; Schinzel, Albert (2003). Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocation. American Journal of Medical Genetics. Part A, 120A(2):247-252.

Zankl, Andreas; Rampa, Antonio; Schinzel, Albert (2003). Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation? American Journal of Medical Genetics. Part A, 118A(4):358-361.

Gimelli, Giorgio; Pujana, Miguel Angel; Patricelli, Maria Grazia; Russo, Silvia; Giardino, Daniela; Larizza, Lidia; Cheung, Joseph; Armengol, Lluís; Schinzel, Albert; Estivill, Xavier; Zuffardi, Orsetta (2003). Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Human Molecular Genetics, 12(8):849-858.

2002

Koch, Andreas; Buheitel, Gernot; Hofbeck, Michael; Rauch, Anita; Kraus, Cornelia; Tassabehji, Mayada; Singer, Helmut (2002). Spectrum of arterial obstructions caused by one elastin gene point mutation. European Journal of Pediatrics, 162(1):53-54.

Thiel, Christian T; Kraus, Cornelia; Rauch, Anita; Ekici, Arif B; Rautenstrauss, Bernd; Reis, André (2002). A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. European Journal of Human Genetics, 11(2):170-178.

Matin, Maryam M; Baumer Wolz, Alessandra; Hornby, David P (2002). An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC. Human Mutation, 20(4):305-311.

Zankl, Andreas; Eberle, Lukas; Molinari, Luciano; Schinzel, Albert (2002). Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years. American Journal of Medical Genetics, 111(4):388-391.

Mutter, Michael; Binkert, Franz; Schinzel, Albert (2002). Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases. Prenatal Diagnosis, 22(9):835-836.

Binkert, Franz; Mutter, Michael; Schinzel, Albert (2002). Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996. Swiss Medical Weekly, 132(33-34):478-484.

Riegel, Mariluce; Schinzel, Albert (2002). Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q? American Journal of Medical Genetics, 111(1):76-80.

Baumer Wolz, Alessandra (2002). Analysis of the methylation status of imprinted genes based on methylation-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography. Methods, 27(2):139-43.

Schlegel, Monika; Baumer Wolz, Alessandra; Riegel, Mariluce; Wiedemann, Ute; Schinzel, Albert (2002). Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Prenatal Diagnosis, 22(5):418-21.

Zweier, Christiane; Albrecht, Beate; Mitulla, Beate; Behrens, Rolf; Beese, Maike; Gillessen-Kaesbach, Gabriele; Rott, Hans-Dieter; Rauch, Anita (2002). "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. American Journal of Medical Genetics, 108(3):177-181.

Czakó, Márta; Riegel, Mariluce; Morava, Eva; Schinzel, Albert; Kosztolányi, György (2002). Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). American Journal of Medical Genetics, 108(3):226-228.

Koch, Andreas; Hofbeck, Michael; Buheitel, Gernot; Dörr, Helmuth-Günther; Rauch, Anita; Rauch, Ralf; Singer, Helmut (2002). Hypoparathyroidism in conotruncal heart defects. European Journal of Pediatrics, 161(4):208-211.

Rauch, Ralf; Rauch, Anita; Koch, Andreas; Kumpf, Matthias; Dufke, Andreas; Singer, Helmut; Hofbeck, Michael (2002). Cervical origin of the subclavian artery as a specific marker for monosomy 22q11. American Journal of Cardiology, 89(4):481-484.

2001

Gurrieri, F; Steindl, K; Giglio, S; Neri, G (2001). New syndrome of mental retardation, Robin sequence, and brachydactyly. American Journal of Medical Genetics. Part A, 100(1):49-51.

Schinzel, Albert; Niedrist, Dunja (2001). Chromosome imbalances associated with epilepsy. American Journal of Medical Genetics, 106(2):119-124.

2000

Schwartz, C E; Gillessen-Kaesbach, G; May, M; Cappa, M; Gorski, J; Steindl, Katharina; Neri, G (2000). Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. European Journal of Human Genetics, 8(11):869-874.

1998

Neri, G; Steindl, Katharina; Mazzei, A; Battaglia, A; Cappa, M (1998). Nonsyndromal overgrowth in males with mild psychomotor delay. American Journal of Medical Genetics. Part A, 79(4):291-293.

1995

Iannaccone, A; Rispoli, E; Vingolo, E M; Onori, P; Steindl, Katharina; Rispoli, D; Pannarale, M R (1995). Correlation between Goldmann perimetry and maximal electroretinogram response in retinitis pigmentosa. Documenta ophthalmologica. Advances in ophthalmology, 90(2):129-142.

1994

Del Porto, G; Vingolo, E M; Steindl, Katharina; Forte, R; Iannaccone, A; Rispoli, E; Pannarale, M R (1994). Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie, 232(12):717-727.

Vingolo, E M; Steindl, Katharina; Forte, R; Zompatori, L; Iannaccone, A; Sciarra, A; Del Porto, G; Pannarale, M R (1994). Autosomal dominant simple microphthalmos. Journal of Medical Genetics, 31(9):721-725.

1993

Grammatico, P; Scarpa, S; Picardo, M; Steindl, Katharina; Nazzaro-Porro, M; Del Porto, G (1993). Karyotype modifications in human malignant melanoma cell cultures after treatment with azelaic acid. Mutation research, 300(2):119-123.

1992

Grammatico, P; Modesti, A; Steindl, Katharina; Scarpa, S; Heouaine, A; Picardo, M; Del Porto, G (1992). Lentigo maligna. Cytogenetic, ultrastructural, and phenotypic characterization of a primary cell culture. Cancer Genetics and Cytogenetics, 60(2):141-146.

This list was generated on Fri Dec 3 23:42:13 2021 CET.