부산대학교 도서관

Depienne, Christel ; Bugiani, Marianna ; Dupuits, Céline ; Galanaud, Damien ; Touitou, Valérie ; Postma, Nienke ; van Berkel, Carola ; Polder, Emiel ; Tollard, Eleonore ; Darios, Frédéric ; Brice, Alexis ; de Die-Smulders, Christine E ; Vles, Johannes S ; Vanderver, Adeline ; Uziel, Graziella ; Yalcinkaya, Cengiz ; Frints, Suzanna G ; Kalscheuer, Vera M ; Klooster, Jan ; Kamermans, Maarten ; Abbink, Truus EM ; Wolf, Nicole I ; Sedel, Frédéric ; van der Knaap, Marjo S

In Lancet Neurology July 2013 12(7):659-668

Musante, Luciana ; Bartsch, Oliver ; Ropers, Hans-Hilger ; Kalscheuer, Vera M

In Gene 2004 332:119-127

Groeneweg S; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; van Geest FS; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; van der Most F; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Abela L; Department of Paediatric Neurology, Universitäts-Kinderspital Zürich, 8008 Zurich, Switzerland.; Alfieri P; Unit of Child Neuropsychiatry, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Bauer AJ; The Thyroid Center, Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Paediatrics, The University of Pennsylvania, Philadelphia, PA 19104, USA.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Cappa M; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Çelik N; Division of Paediatric Endocrinology, Department of Child Health and Diseases, Sivas Cumhuriyet University Faculty of Medicine, 58140 Sivas, Turkey.; de Coo IFM; Department of Paediatric Neurology, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Mental Health and Neuroscience Research Institute, Department Translational Genomics, Maastricht University Medical Centre, 6229 ET Maastricht, the Netherlands.; Dolcetta-Capuzzo A; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Department of Endocrinology and Internal Medicine, San Raffaele Scientific Institute, 20132 Milan, Italy.; Dubinski I; Centre for Paediatric Endocrinology Zurich (PEZZ), 8006 Zurich, Switzerland.; Division of Paediatric Endocrinology and Diabetology, Dr. von Hauner Children's Hospital, University Hospital (LMU), 80337 Munich, Germany.; Granadillo JL; Department of Paediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St Louis, MO 63110, USA.; Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.; van der Knoop MM; Department of Paediatric Neurology, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Krude H; Institut für Experimentelle Pädiatrische Endokrinologie, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; McNerney KP; Department of Paediatrics, Division of Endocrinology, Diabetes, and Metabolism, Washington University School of Medicine, St Louis, MO 63110, USA.; Paone L; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; Peeters RP; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Peters C; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.; Schuelke M; Department or Neuropediatrics, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Schweizer U; Institut für Biochemie und Molekularbiologie, Rheinische Friedrich-Wilhelms-Universität Bonn, D-53115 Bonn, Germany.; Sprague JE; Department of Paediatrics, Division of Endocrinology, Diabetes, and Metabolism, Washington University School of Medicine, St Louis, MO 63110, USA.; van Trotsenburg ASP; Department of Paediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.; Amsterdam Reproduction and Development Research Institute, 1105 AZ Amsterdam, the Netherlands.; Wilpert NM; Department or Neuropediatrics, Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.; van Zutven LJCM; Department of Clinical Genetics, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.; Visser WE; Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Garrett A; Speech & Language, Murdoch Children's Institute, Melbourne, Australia.; Kalscheuer VM; Max Planck Institute for Molecular Genetics, Group Development and Disease, Berlin, Germany.; Figueroa RR; Cure CLCN4, London, UK.; Palmer EE; Centre for Clinical Genetics, Sydney Children's Hospital Network, Randwick, Australia.; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, Australia.; Morgan AT; Speech & Language, Murdoch Children's Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Royal Children's Hospital, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Department of Audiology, and Speech Pathology, University of Melbourne, Parkville, Australia.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

de Brouwer, Arjan PM; Nabuurs, Sander B; Verhaart, Ingrid EC; Oudakker, Astrid R; Hordijk, Roel; Yntema, Helger G; Hordijk-Hos, Jannet M; Voesenek, Krysta; de Vries, Bert BA; van Essen, Ton; Chen, Wei; Hu, Hao; Chelly, Jamel; den Dunnen, Johan T; Kalscheuer, Vera M; Aartsma-Rus, Annemieke M; Hamel, Ben CJ; van Bokhoven, Hans; Kleefstra, Tjitske

European Journal of Human Genetics. Apr2014, Vol. 22 Issue 4, p480-485. 6p.

Wei Chen; Ullmann, Reinhard; Langnick, Claudia; Menzel, Corinna; Wotschofsky, Zofia; Hu, Hao; Döring, Andreas; Yuhui Hu; Hui Kang; Tzschach, Andreas; Hoeltzenbein, Maria; Neitzel, Heidemarie; Markus, Susanne; Wiedersberg, Eberhard; Kistner, Gerd; van Ravenswaaij-Arts, Conny M. A.; Kleefstra, Tjitske; Kalscheuer, Vera M; Ropers, Hans-Hilger

European Journal of Human Genetics. May2010, Vol. 18 Issue 5, p539-543. 5p. 3 Diagrams.

Musante, Luciana; Kehl, Hans G; Majewski, Frank; Meinecke, Peter; Schweiger, Susann; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Hinkel, Georg K; Tinschert, Sigrid; Hoeltzenbein, Maria; Ropers, Hans-Hilger; Kalscheuer, Vera M

European Journal of Human Genetics. Feb2003, Vol. 11 Issue 2, p201. 6p.

Damiani F; Laboratory of Biology BIO@SNS, Scuola Normale Superiore, Piazza dei Cavalieri 7, 56126 Pisa, Italy.; Giuliano MG; Laboratory of Biology BIO@SNS, Scuola Normale Superiore, Piazza dei Cavalieri 7, 56126 Pisa, Italy; Health Science Interdisciplinary Center, Sant'Anna School of Advanced Studies, Piazza Martiri della Libertà 33, 56127 Pisa, Italy.; Cornuti S; Laboratory of Biology BIO@SNS, Scuola Normale Superiore, Piazza dei Cavalieri 7, 56126 Pisa, Italy.; Putignano E; Institute of Neuroscience, National Research Council, Via G. Moruzzi 1, 56124 Pisa, Italy.; Tognozzi A; Laboratory of Biology BIO@SNS, Scuola Normale Superiore, Piazza dei Cavalieri 7, 56126 Pisa, Italy; PhD Program in Clinical and Translational Science, University of Pisa, Via Savi 10, 56126 Pisa, Italy.; Suckow V; Max Planck Institute for Molecular Genetics, Ihnestraße 63, 14195 Berlin, Germany.; Kalscheuer VM; Max Planck Institute for Molecular Genetics, Ihnestraße 63, 14195 Berlin, Germany.; Pizzorusso T; Laboratory of Biology BIO@SNS, Scuola Normale Superiore, Piazza dei Cavalieri 7, 56126 Pisa, Italy; Institute of Neuroscience, National Research Council, Via G. Moruzzi 1, 56124 Pisa, Italy.; Tognini P; Health Science Interdisciplinary Center, Sant'Anna School of Advanced Studies, Piazza Martiri della Libertà 33, 56127 Pisa, Italy. Electronic address: paola.tognini@santannapisa.it.

Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

Grozdanov, Petar N; Masoumzadeh, Elahe; Kalscheuer, Vera M; Bienvenu, Thierry; Billuart, Pierre; Delrue, Marie-Ange; Latham, Michael P; MacDonald, Clinton C

Nucleic Acids Research; 9/25/2020, Vol. 48 Issue 17, p9804-9821, 18p

Riesewijk, Anne M; Blagitko, Nadya; Schinzel, Albert A; Hu, Landian; Schulz, Ute; Hamel, Ben CJ; Ropers, Hans-Hilger; Kalscheuer, Vera M

European Journal of Human Genetics. Mar1998, Vol. 6 Issue 2, p114. 7p.

Khayat, Wujood; Hackett, Anna; Shaw, Marie; Ilie, Alina; Dudding-Byth, Tracy; Kalscheuer, Vera M; Christie, Louise; Corbett, Mark A; Juusola, Jane; Friend, Kathryn L; Kirmse, Brian M; Gecz, Jozef; Field, Michael; Orlowski, John

Human Molecular Genetics; 2/15/2019, Vol. 28 Issue 4, p598-614, 17p

Meziane H; Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris (ICS), PHENOMIN, CELPHEDIA, 1 rue Laurent Fries, 67404 Illkirch, France.; Birling MC; Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris (ICS), PHENOMIN, CELPHEDIA, 1 rue Laurent Fries, 67404 Illkirch, France.; Wendling O; Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris (ICS), PHENOMIN, CELPHEDIA, 1 rue Laurent Fries, 67404 Illkirch, France.; Leblanc S; Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris (ICS), PHENOMIN, CELPHEDIA, 1 rue Laurent Fries, 67404 Illkirch, France.; Dubos A; Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris (ICS), PHENOMIN, CELPHEDIA, 1 rue Laurent Fries, 67404 Illkirch, France.; Université de Strasbourg, CNRS, INSERM, Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1 rue Laurent Fries, 67404 Illkirch, France.; Selloum M; Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris (ICS), PHENOMIN, CELPHEDIA, 1 rue Laurent Fries, 67404 Illkirch, France.; Pavlovic G; Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris (ICS), PHENOMIN, CELPHEDIA, 1 rue Laurent Fries, 67404 Illkirch, France.; Sorg T; Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris (ICS), PHENOMIN, CELPHEDIA, 1 rue Laurent Fries, 67404 Illkirch, France.; Kalscheuer VM; Max Planck Institute for Molecular Genetics, Research Group Development and Disease, Ihnestr. 63-73, 14195 Berlin, Germany.; Billuart P; Institute of Psychiatry and Neuroscience of Paris (IPNP), Université de Paris, INSERM U1266, 'Genetic and Development of Cerebral Cortex', 75014 Paris, France.; GHU Paris Psychiatrie et Neurosciences, Hôpital Sainte Anne, 75014 Paris, France.; Laumonnier F; UMR1253, iBrain, University of Tours, Inserm, 37032 Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, 37044 Tours, France.; Chelly J; Université de Strasbourg, CNRS, INSERM, Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1 rue Laurent Fries, 67404 Illkirch, France.; van Bokhoven H; Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, The Netherlands.; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, 6525 AJ Nijmegen, The Netherlands.; Herault Y; Université de Strasbourg, CNRS, INSERM, Institut Clinique de la Souris (ICS), PHENOMIN, CELPHEDIA, 1 rue Laurent Fries, 67404 Illkirch, France.; Université de Strasbourg, CNRS, INSERM, Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1 rue Laurent Fries, 67404 Illkirch, France.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE

Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Schröder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Parenti I; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Dalle C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.; Rastetter A; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.; Kühnel T; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Gérard B; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Schaefer E; Service de Génétique Médicale, IGMA, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Nava C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.; Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France.; Engel C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France.; Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.; Duban-Bedu B; Centre de génétique chromosomique, Hôpital Saint-Vincent de Paul, Lille, France.; Villard L; Aix-Marseille University, INSERM, MMG, UMR-S 1251, Faculté de médecine, Marseille, France.; Département de Génétique Médicale, APHM, Hôpital d'Enfants de La Timone, Marseille, France.; Stegmann APA; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Verdonschot JAJ; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Cardiovascular Research Institute (CARIM), Departments of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Tran Mau-Them F; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Frints SGM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.; Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Elder F; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France.; Buratti J; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France.; Keren B; UF de Génomique du Développement, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France.; Mignot C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.; APHP, Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, Paris, France.; Héron D; APHP, Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, Paris, France.; Mandel JL; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France.; Gecz J; School of Medicine, The University of Adelaide, Adelaide, 5005, SA, Australia.; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5006, Australia.; South Australian Health and Medical Research Institute, The University of Adelaide, Adelaide, 5005, SA, Australia.; Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Horsthemke B; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Piton A; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.; Université de Strasbourg, Illkirch, 67400, France.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. christel.depienne@uni-due.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Schöpflin R; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Melo US; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Moeinzadeh H; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Heller D; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Laupert V; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Hertzberg J; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Holtgrewe M; CUBI-Core Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.; Charité-University Medicine Berlin, Berlin, Germany.; Alavi N; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Klever MK; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Jungnitsch J; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Comak E; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany.; Türkmen S; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Laboratoire national de santé, Dudelange, Luxembourg.; Horn D; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.; Duffourd Y; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Department of Genetics and Centres of Reference for rare disorders, developmental abnormalities and intellectual disabilities, FHU TRANSLAD and GIMI Institute, University Hospital Dijon, Dijon, France.; Callier P; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Sanlaville D; Department of Medical Genetics, University Hospital of Lyon, 69007, Lyon, France.; Zuffardi O; Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Tenconi R; Genetica Clinica, Dipartimento di Pediatria, Università di Padova, Padova, Italy.; Kurtas NE; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy.; Giglio S; Medical Genetics Unit, University of Cagliari, Cagliari, Italy.; Prager B; Praxis für Humangenetik, Kinderzentrum Dresden-Friedrichstadt, Dresden, Germany.; Latos-Bielenska A; Department of Medical Genetics, University of Medical Sciences in Poznan, Poznan, Poland.; Vogel I; Department for Clinical Medicine, Aarhus University, Aarhus, Denmark.; Bugge M; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Tommerup N; Wilhelm Johannsen Center for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Spielmann M; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, 23562 Lübeck, 24105, Kiel, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, 23562, Lübeck, Germany.; Vitobello A; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD « Génétique des Anomalies du Développement », FHU-TRANSLAD, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Kalscheuer VM; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany.; Vingron M; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, Berlin, Germany. vingron@molgen.mpg.de.; Mundlos S; Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany. stefan.mundlos@charite.de.; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany. stefan.mundlos@charite.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzońca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; Hu, Hao; Thiele, Holger; Altmüller, Janine; Krause, Roland; May, Patrick; Becker, Felicitas; Balling, Rudi; Biskup, Saskia; Haas, Stefan A; Nürnberg, Peter; van Gassen, Koen L I; Lerche, Holger; Zara, Federico; Maljevic, Snezana; Leshinsky-Silver, Esther

Brain. Nov 01, 2017 140(11):2879-2894

Courraud J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, 67 400, Illkirch, France.; Engel C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, 67 400, Illkirch, France.; Quartier A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, 67 400, Illkirch, France.; Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, 67 400, Illkirch, France.; Houessou U; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, 67 400, Illkirch, France.; Plassard D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, 67 400, Illkirch, France.; Sorlin A; National Center of Genetics, Laboratoire national de santé, Dudelange, Luxembourg.; Brischoux-Boucher E; Centre de Génétique Humaine, CHU Besançon, Université de Franche-Comté, 25056, Besançon, France.; Gouy E; Genetics Department, University Hospital of Lyon, Bron, 69500, France.; Van Maldergem L; Centre de Génétique Humaine, CHU Besançon, Université de Franche-Comté, 25056, Besançon, France.; Rossi M; Genetics Department, University Hospital of Lyon, Bron, 69500, France.; Equipe GENDEV, CRNL, Inserm U1028, CNRS UMR 5292, UCB Lyon1, Illkirch, France.; Lesca G; Genetics Department, University Hospital of Lyon, Bron, 69500, France.; Equipe GENDEV, CRNL, Inserm U1028, CNRS UMR 5292, UCB Lyon1, Illkirch, France.; Edery P; Genetics Department, University Hospital of Lyon, Bron, 69500, France.; Equipe GENDEV, CRNL, Inserm U1028, CNRS UMR 5292, UCB Lyon1, Illkirch, France.; Putoux A; Genetics Department, University Hospital of Lyon, Bron, 69500, France.; Equipe GENDEV, CRNL, Inserm U1028, CNRS UMR 5292, UCB Lyon1, Illkirch, France.; Bilan F; Service de génétique médicale, CHU de Poitiers, 86 000, Poitiers, France.; Gilbert-Dussardier B; Service de génétique médicale, CHU de Poitiers, 86 000, Poitiers, France.; Atallah I; Department of Medical Genetics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Kalscheuer VM; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Mandel JL; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, 67 400, Illkirch, France.; Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France. apiton@unistra.fr.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France. apiton@unistra.fr.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France. apiton@unistra.fr.; Université de Strasbourg, 67 400, Illkirch, France. apiton@unistra.fr.; Genetic diagnosis laboratory, Strasbourg University Hospital, 67 090, Strasbourg, France. apiton@unistra.fr.; Institut Universitaire de France, Paris, France. apiton@unistra.fr.

Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Beheshtian M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Akhtarkhavari T; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Mehvari S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Mohseni M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Fattahi Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Abedini SS; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Arzhangi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Fadaee M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Jamali P; Genetic Counseling Center, Shahroud Welfare Organization, Semnan, Iran.; Najafipour R; Cellular and Molecular Research Centre, Genetic Department, Qazvin University of Medical Sciences, Qazvin, Iran.; Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Hu H; Guangzhou Women and Children's Medical Center, Guangzhou, China.; Ropers HH; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Human Genetics, University Medicine, Mainz, Germany.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad - Najmabadi Pathology and Genetics Center, Molecular division, Tehran, Islamic Republic of Iran, Tehran, Iran.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Huang X; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Paul G. Allen School of Computer Science & Engineering, University of Washington, Seattle, WA, USA.; Henck J; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Qiu C; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Sreenivasan VKA; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.; Balachandran S; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.; Amarie OV; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.; Hrabě de Angelis M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Behncke RY; Institute of Medical Genetics and Human Genetics of the Charité, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BCRT, Berlin, Germany.; Chan WL; Institute of Medical Genetics and Human Genetics of the Charité, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BCRT, Berlin, Germany.; Despang A; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BCRT, Berlin, Germany.; Dickel DE; Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Duran M; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Feuchtinger A; Core Facility Pathology & Tissue Analytics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.; Fuchs H; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.; Gailus-Durner V; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.; Haag N; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Hägerling R; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute of Medical Genetics and Human Genetics of the Charité, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BCRT, Berlin, Germany.; Hansmeier N; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute of Medical Genetics and Human Genetics of the Charité, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BCRT, Berlin, Germany.; Hennig F; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Marshall C; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Rajderkar S; Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Ringel A; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute of Medical Genetics and Human Genetics of the Charité, Berlin, Germany.; Robson M; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Saunders LM; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; da Silva-Buttkus P; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.; Spielmann N; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.; Srivatsan SR; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Ulferts S; Institute of Medical Genetics and Human Genetics of the Charité, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BCRT, Berlin, Germany.; Wittler L; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Zhu Y; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Kalscheuer VM; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Ibrahim DM; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BCRT, Berlin, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Kornak U; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Visel A; Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Pennacchio LA; Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Beier DR; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Center for Developmental Biology & Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Trapnell C; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA.; Allen Discovery Center for Cell Lineage Tracing, Seattle, WA, USA.; Cao J; Laboratory of Single-Cell Genomics and Population Dynamics, The Rockefeller University, New York, NY, USA. jcao@rockefeller.edu.; Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA, USA. shendure@uw.edu.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA. shendure@uw.edu.; Allen Discovery Center for Cell Lineage Tracing, Seattle, WA, USA. shendure@uw.edu.; Howard Hughes Medical Institute, Seattle, WA, USA. shendure@uw.edu.; Spielmann M; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany. malte.spielmann@uksh.de.; Max Planck Institute for Molecular Genetics, Berlin, Germany. malte.spielmann@uksh.de.; DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Lübeck/Kiel, Lübeck, Germany. malte.spielmann@uksh.de.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Young-Baird SK; Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.; National Institute of General Medical Sciences, NIH, Bethesda, Maryland, USA.; Suckow V; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Thornburg AG; Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.; Wagner M; Institute of Human Genetics, Technical University München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.; Christ S; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Strom T; Institute of Human Genetics, Technical University München, Munich, Germany.; Dever TE; Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.; Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Frints SGM; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.; Hennig F; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Colombo R; Catholic University of the Sacred Heart, Rome, Italy.; Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.; Jacquemont S; Service de Génétique Médicale, CHUV, Lausanne, Switzerland.; Terhal P; Laboratories, Pharmacy and Biomedical Genetics Division, University Medical Centre Utrecht, Utrecht, The Netherlands.; Zimmerman HH; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi.; Hunt D; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Mendelsohn BA; Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.; Kordaß U; MVZ für Humangenetik und Molekularpathologie GmbH, Greifswald, Germany.; Webster R; The Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.; Abdul-Rahman O; Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.; Suckow V; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Fernández-Jaén A; Hospital Universitario Quirónsalud, Universidad Europea de Madrid, Madrid, Spain.; van Roozendaal K; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.; Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.; Macville MVE; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.; Al-Nasiry S; Department of Obstetrics and Gynecology, Prenatal Diagnostics & Therapy, Maastricht University Medical Center+, Maastricht, The Netherlands.; van Gassen K; Laboratories, Pharmacy and Biomedical Genetics Division, University Medical Centre Utrecht, Utrecht, The Netherlands.; Utzig N; Klinik für Kinder- und Jugendmedizin, Universitätsmedizin Greifswald, Greifswald, Germany.; Koudijs SM; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands.; McGregor L; SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.; Maas SM; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Baralle D; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine, University of Southampton, Southampton, UK.; Dixit A; City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Wieacker P; Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Münster, Germany.; Lee M; Department of Pediatrics, Division of Pediatric Neurology, University of Mississippi Medical Center, Jackson, Mississippi.; Lee AS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Engle EC; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Howard Hughes Medical Institute, Chevy Chase, Maryland.; Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Gradek GA; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.; Douglas AGL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, UK.; Longman C; West of Scotland Regional Genetic Centre, Queen Elizabeth University Hospital, Glasgow, Scotland, UK.; Joss S; West of Scotland Regional Genetic Centre, Queen Elizabeth University Hospital, Glasgow, Scotland, UK.; Velasco D; Department of Pediatrics, Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.; Hennekam RC; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.; Hirata H; Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara, Japan.; Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE