부산대학교 도서관

Kempers, Marlies JE ; Kuiper, Roland P ; Ockeloen, Charlotte W ; Chappuis, Pierre O ; Hutter, Pierre ; Rahner, Nils ; Schackert, Hans K ; Steinke, Verena ; Holinski-Feder, Elke ; Morak, Monika ; Kloor, Matthias ; Büttner, Reinhard ; Verwiel, Eugene TP ; van Krieken, J Han ; Nagtegaal, Iris D ; Goossens, Monique ; van der Post, Rachel S ; Niessen, Renée C ; Sijmons, Rolf H ; Kluijt, Irma ; Hogervorst, Frans BL ; Leter, Edward M ; Gille, Johan JP ; Aalfs, Cora M ; Redeker, Egbert JW ; Hes, Frederik J ; Tops, Carli MJ ; van Nesselrooij, Bernadette PM ; van Gijn, Marielle E ; García, Encarna B Gómez ; Eccles, Diana M ; Bunyan, David J ; Syngal, Sapna ; Stoffel, Elena M ; Culver, Julie O ; Palomares, Melanie R ; Graham, Tracy ; Velsher, Lea ; Papp, Janos ; Oláh, Edith ; Chan, Tsun L ; Leung, Suet Y ; van Kessel, Ad Geurts ; Kiemeney, Lambertus ALM ; Hoogerbrugge, Nicoline ; Ligtenberg, Marjolijn JL

In Lancet Oncology 2011 12(1):49-55

Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske

Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Smith, A, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, O'Connor, M, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K B, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Muir, A M, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American journal of human genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008
American Journal of Human Genetics, 111, 8, pp. 1605-1625
The American journal of human genetics
Rots, D, Bouman, A, Yamada, A, Levy, M, Dingemans, A J M, de Vries, B B A, Ruiterkamp-Versteeg, M, de Leeuw, N, Ockeloen, C W, Pfundt, R, de Boer, E, Kummeling, J, van Bon, B, van Bokhoven, H, Kasri, N N, Venselaar, H, Alders, M, Kerkhof, J, McConkey, H, Kuechler, A, Elffers, B, van Beeck Calkoen, R, Hofman, S, Valenzuela, M I, Srivastava, S, Frazier, Z, Maystadt, I, Piscopo, C, Merla, G, Balasubramanian, M, Santen, G W E, Metcalfe, K, Park, S-M, Pasquier, L, Banka, S, Donnai, D, Weisberg, D, Strobl-Wildemann, G, Wagemans, A, Vreeburg, M, Baralle, D, Foulds, N, Scurr, I, Brunetti-Pierri, N, van Hagen, J M, Bijlsma, E K, Hakonen, A H, Courage, C, Genevieve, D, Pinson, L, Forzano, F, Deshpande, C, Kluskens, M L, Welling, L, Plomp, A S, Vanhoutte, E K, Kalsner, L, Hol, J A, Putoux, A, Lazier, J, Vasudevan, P, Ames, E, O'Shea, J, Lederer, D, Fleischer, J, Pauly, M, Vasileiou, G, Reis, A, Kiraly-Borri, C, Bouman, A, Barnett, C, Nezarati, M, Borch, L, Beunders, G, Özcan, K, Miot, S, Volker-Touw, C M L, van Gassen, K L I, Cappuccio, G, Janssens, K, Mor, N, Shomer, I, Dominissini, D, Tedder, M L, Sadikovic, B, Brunner, H G, Vissers, L E L M, Shinkai, Y & Kleefstra, T 2024, 'Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome', American Journal of Human Genetics, vol. 111, no. 8, pp. 1605-1625. https://doi.org/10.1016/j.ajhg.2024.06.008

Andriessen E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; de Boer E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Lyon GJ; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; The Graduate Center, The City University of New York, New York, New York, USA.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

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

Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK. Karen.low@bristol.ac.uk.; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK. Karen.low@bristol.ac.uk.; Foreman J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Hobson RJ; DDD team, Wellcome Sanger Institute, Hinxton, Cambridge, UK.; Kwuo H; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.; Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Marin-Reina P; Dysmorphology and Neonatology Unit. Hospital Universitari i Politècnic La Fe, Valencia, Spain.; Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Woods E; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.; Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.; Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Wright CM; Department of Human Nutrition, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK.; Firth HV; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge, UK.; Cole TJ; UCL Great Ormond Street Institute of Child Health, London, UK.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

van der Leij M; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; de Groot E; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, the Netherlands.; Orlandini E; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Klein WM; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, the Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Geelen JM; Department of Pediatrics, Developmental and Genetic Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.

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

Low KJ; Centre for Academic Child Health, University of Bristol, Bristol, UK.; Department of Clinical Genetics, UHBW NHS Trust, Bristol, UK.; Martinez-Cayuelas E; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain.; Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Marin-Reina P; Dysmorphology and Neonatology Unit, Hospital Universitari i Politècnic La Fe, Valencia, Spain.; Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Cole TJ; UCL Great Ormond Street Institute of Child Health, London, UK.

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

Teunissen, Maria W A; Lewerissa, Elly; Hugte, Eline J H van; Wang, Shan; Ockeloen, Charlotte W; Koolen, David A; Pfundt, Rolph; Marcelis, Carlo L M; Brilstra, Eva; Howe, Jennifer L; Scherer, Stephen W; Guillou, Xavier Le; Bilan, Frédéric; Primiano, Michelle; Roohi, Jasmin; Piton, Amelie; Martin, Anne de Saint; Baer, Sarah; Seiffert, Simone; Platzer, Konrad

Human Molecular Genetics; 7/15/2023, Vol. 32 Issue 14, p2373-2385, 13p

Aukema SM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Medical Genetics, University Medicine Oldenburg, Oldenburg, Germany.; Vandenput K; Radboud University Medical Center, Nijmegen, the Netherlands.; Scarano E; Pediatrics Unit, IRCCS Azienda Ospedaliero, Universitaria di Bologna, Bologna, Italy.; Goel H; Hunter Genetics, Waratah, Australia.; University of Newcastle, Callaghan, Australia.; Guo L; Chicago Medical School, North Chicago, Illinois, USA.; Vanneste M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Zwaveling-Soonawala N; Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Kiewert C; Division of Paediatric Endocrinology and Diabetes, Member of ENDO-ERN, University Hospital Essen, University of Duisburg, Essen, Germany.; Kuechler A; 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.; Orlandini E; Specialty School of Pediatrics, Alma Mater University of Bologna, Bologna, Italy.; de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Health Innovation Manchester, Manchester, UK.; Wall E; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Health Innovation Manchester, Manchester, UK.; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.; Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.; Biology PhD Program, The Graduate Center, The City University of New York, New York, New York, USA.; Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, UK.; Bristol Medical School, University of Bristol, Bristol, UK.; Geelen JM; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Zwan YG; Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Paediatrics, Isala, Zwolle, the Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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

Ockeloen, Charlotte W; Raaijmakers, Aron; Hijmans-van der Vegt, Manon; Bierau, Jörgen; de Vos-Geelen, Judith; Willemsen, Annelieke ECAB; van den Bosch, Bianca JC; Coenen, Marieke JH

Journal of Oncology Pharmacy Practice. Jan2023, Vol. 29 Issue 1, p5-13. 9p.

Ockeloen, Charlotte W; Willemsen, Marjolein H; de Munnik, Sonja; van Bon, Bregje WM; de Leeuw, Nicole; Verrips, Aad; Kant, Sarina G; Jones, Elizabeth A; Brunner, Han G; van Loon, Rosa LE; Smeets, Eric EJ; van Haelst, Mieke M; van Haaften, Gijs; Nordgren, Ann; Malmgren, Helena; Grigelioniene, Giedre; Vermeer, Sascha; Louro, Pedro; Ramos, Lina; Maal, Thomas JJ

European Journal of Human Genetics. Sep2015, Vol. 23 Issue 9, p1176-1185. 10p.

Kennis MGP; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. milou.kennis@radboudumc.nl.; Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Children's Clinical University Hospital, Riga, Latvia.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Ockeloen CW; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Boelen C; Department of Pediatrics, Admiraal De Ruyter Ziekenhuis, Goes, Zeeland, The Netherlands.; Marcelis CLM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; de Vries BBA; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Elting MW; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Waisfisz Q; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Suri M; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Font-Montgomery E; Department of Pediatrics/Genetics/Metabolism Disorders, Children's Hospital of Michigan, Detroit, MI, USA.; Peck DS; Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, USA.; Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast, Northern Ireland.; Rogers RC; Greenwood Genetic Center, Greenwood, SC, USA.; Richardson R; Northern Genetics Service, Newcastle upon Tyne hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.; Caumes R; CHU Lille, Clinique de génétique Guy Fontaine, F-, 59000, Lille, France.; Chaumette B; Université Paris Cité, Institute of Psychiatry and Neurosciences of Paris (INSERM U1266), GHU Paris Psychiatrie et Neurosciences, Paris, France.; Louveau C; Université Paris Cité, Institute of Psychiatry and Neurosciences of Paris (INSERM U1266), GHU Paris Psychiatrie et Neurosciences, Paris, France.; Sallevelt SCEH; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Maas SM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Smits JJ; Department of Human Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Haelst MM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Levy RJ; Neurology and Neurological Sciences, Division of Child Neurology, Stanford University and Lucile Packard Children's Hospital, Palo Alto, California, USA.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Loeys BL; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.; Snijders Blok L; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. lot.snijdersblok@radboudumc.nl.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Vink, Christian P; Ockeloen, Charlotte W; ten Kate, Sietske; Koolen, David A; Ploos van Amstel, Johannes Kristian; Kuijpers-Jagtman, Anne-Marie; van Heumen, Celeste C; Kleefstra, Tjitske; Carels, Carine E L

European Journal of Human Genetics. Sep2014, Vol. 22 Issue 9, p1063-1070. 8p.

Schmid CM; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.; Gregor A; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland.; Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Manso Bazús C; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.; Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Neurosciences, Boystown National Research Hospital, Boystown, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Ammouri F; The University of Kansas Health System, Westwood, KS, USA.; Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; McNiven V; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Begemann A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Suter AA; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Isidor B; Department of Medical Genetics, CHU Nantes, Nantes, France.; Mercier S; Department of Medical Genetics, CHU Nantes, Nantes, France.; Nizon M; Department of Medical Genetics, CHU Nantes, Nantes, France.; Cogné B; Department of Medical Genetics, CHU Nantes, Nantes, France.; Deb W; Department of Medical Genetics, CHU Nantes, Nantes, France.; Besnard T; Department of Medical Genetics, CHU Nantes, Nantes, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Linden T; University Children's Hospital, Klinikum Oldenburg, Department of Neuropediatrics, Oldenburg, Germany.; Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC, USA.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Ibrahim N; Lahore College for Women University, Lahore, Pakistan.; Naz S; Lahore College for Women University, Lahore, Pakistan.; Lacaze E; Department of Medical Genetics, Le Havre Hospital, Le Havre, France.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany.; Elloumi HZ; GeneDx, Gaithersburg, MD, USA.; Person R; GeneDx, Gaithersburg, MD, USA.; Zou F; GeneDx, Gaithersburg, MD, USA.; Kahle JJ; GeneDx, Gaithersburg, MD, USA.; Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Schmidt A; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.; Delrue MA; Department of Genetics, Université de Montréal, Sainte-Justine University Hospital, Montreal, Canada.; Almeida PM; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Ramos F; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Centro de Diagnóstico Pré-natal, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.; Srivastava S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Quinlan A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Robertson S; Department of Pediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.; Manka E; Center for Rare Disease Essen (Essener Zentrum für Seltene Erkrankungen-EZSE), Universitätsmedizin Essen, Essen, Germany.; Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Spranger S; Praxis für Humangenetik, Klinikum Bremen-Mitte, Bremen, Germany.; Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.; Elshafie RM; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Alsharhan H; Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.; Department of Pediatrics, Health science center, College of Medicine, Kuwait University, P.O. Box 24923, Safat, Kuwait.; Hillman PR; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; McKee S; Belfast HSC Trust, Northern Ireland Regional Genetics Service, Belfast, Northern, Ireland.; Moresco A; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada.; Ignat AD; Division of Clinical Genetics, Pediatric Department, Children's Hospital, London Health Sciences Centre, Western University, London, ON, Canada.; Newbury-Ecob R; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.; Banneau G; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Patat O; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Kuerbitz J; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Rzucidlo S; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.; Sell SS; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.; Gordon P; Penn State Health Children's Hospital, Department of Pediatrics, Division of Human Genetics, Hershey, PA, USA.; Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Halleb Y; Le Mans Hospital, Department of Medical Genetics, Le Mans, France.; Stoeva R; Le Mans Hospital, Department of Medical Genetics, Le Mans, France.; Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France.; Al Masseri Z; Department of Pediatrics, Medical Genetics Unit, Qatif Central Hospital, Eastern Health Cluster, Dammam, Saudi Arabia.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Hammer-Hansen S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Krüger Sølyst S; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Steigerwald CG; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.; Abreu NJ; Division of Neurogenetics, Department of Neurology, NYU Grossman School of Medicine, New York, NY, USA.; Faust H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Müller-Nedebock A; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Génétique des Anomalies Du Développement, INSERM 123, Université de Bourgogne, Dijon, France.; Sticht H; Institut für Biochemie, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.; Department for Biomedical Research (DBMR), University of Bern, Bern, Switzerland. christiane.zweier@insel.ch.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Low KJ; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.; Walker M; Avon and Wiltshire Mental Health Partnership NHS Trust, Adult ADHD Service, Petherton Resource Centre, Bristol, UK.; Treneman-Evans G; Centre for Academic Child Health, Bristol Medical School, University of Bristol, Bristol, UK.; Bramswig NC; Centre of Medical Genetics, Department of Medical Genetics, University and University Hospital Münster, Münster, Germany.; Herlin MK; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Lesca G; Department of Medical Genetics, Lyon University Hospitals, Claude Bernard Lyon 1 University, Lyon, France.; Scarano E; Pediatric Unit, IRCCS Azienda Ospedaliero-Universiitaria di Bologna, Bologna, Italy.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Bayat A; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101570837 Publication Model: Print Cited Medium: Internet ISSN: 2162-3279 (Electronic) NLM ISO Abbreviation: Brain Behav Subsets: MEDLINE

Buijsse N; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Jansen FE; Department of Pediatric Neurology, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Kempen MJA; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Scarano E; Department of Pediatrics, St. Orsola-Malpighi Hospital, Bologna, Italy.; Monticone S; Department of Pediatrics, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy.; Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Low KJ; Department of Clinical Genetics, University Hospitals Bristol and Weston NHS trust, University of Bristol, Bristol, UK.; Bayat A; Department for Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology and Chalfont Centre for Epilepsy, Chalfont St Peter, UK.; Samanta D; Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Lesca G; Department of Genetics, University Hospitals of Lyon, Lyon, France.; de Jong D; Department of Neurology, Academic Center for Epileptology Kempenhaeghe/MUMC+, Heeze, The Netherlands.; Giltay JC; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Verbeek NE; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Brilstra EH; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Vlaskamp DRM; Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.

Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

Schirwani S; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Woods E; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; Kavanagh K; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Cedars-Sinai Center for the Undiagnosed Patient, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Chung JM; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Balasubramanian M; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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

Amor, David J; Stephenson, Sarah E M; Mustapha, Mirna; Mensah, Martin A; Ockeloen, Charlotte W; Lee, Wei Shern; Tankard, Rick M; Phelan, Dean G; Shinawi, Marwan; de Brouwer, Arjan P M; Pfundt, Rolph; Dowling, Cari; Toler, Tomi L; Sutton, V Reid; Agolini, Emanuele; Rinelli, Martina; Capolino, Rossella; Martinelli, Diego; Zampino, Giuseppe; Dumić, Miroslav; Reardon, William; Shaw-Smith, Charles; Leventer, Richard J; Delatycki, Martin B; Kleefstra, Tjitske; Mundlos, Stefan; Mortier, Geert; Bahlo, Melanie; Allen, Nicola J; Lockhart, Paul J

American Journal of Human Genetics, 104, 5, pp. 914-924
The American journal of human genetics

Wortmann SB; Radboud Center for Mitochondrial and Metabolic Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Oud MM; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Coene KLM; United for Metabolic Diseases, Amsterdam, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; van der Crabben SN; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Feichtinger RG; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Garanto A; Radboud Center for Mitochondrial and Metabolic Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud Institute for Molecular Lifesciences, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud Institute for Molecular Lifesciences, Nijmegen, The Netherlands.; Hoischen A; Department of Human Genetics, Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud Institute of Medical Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; Langeveld M; Department of Endocrinology and Metabolism, Amsterdam University Medical Centers, location AMC, University of Amsterdam, Amsterdam, The Netherlands.; Lefeber D; United for Metabolic Diseases, Amsterdam, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Mayr JA; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Ockeloen CW; Department of Human Genetics, Radboud Institute for Molecular Lifesciences, Nijmegen, The Netherlands.; Prokisch H; School of Medicine, Institute of Human Genetics, Technical University Munich and Institute of Neurogenomics, Neuherberg, Germany.; Rodenburg R; Radboud Center for Mitochondrial and Metabolic Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.; Waterham HR; United for Metabolic Diseases, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam University Medical Centers, location AMC, University of Amsterdam, Amsterdam, The Netherlands.; Wevers RA; United for Metabolic Diseases, Amsterdam, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Willemsen MAAP; Departments of Pediatric Neurology and Pediatrics, Amalia Children's Hospital, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; van Karnebeek CDM; Radboud Center for Mitochondrial and Metabolic Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Department of Pediatrics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, Amsterdam Genetics Endocrinology Metabolism Research Institute, University of Amsterdam, Amsterdam, The Netherlands.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia.; Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de Los Alimentos (INTA), Universidad de Chile, Santiago, Chile; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.; Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK.; Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Stewart S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK.; Dabir T; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK.; Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Brown N; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Melbourne, VIC, Australia.; Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Jacquemont S; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.; Jizi K; Service de Génétique Médicale, CHU Ste-Justine, Montréal, QC, Canada.; Ravenswaaij-Arts CMAV; University of Groningen, University Medical Centre Groningen, Department Genetics, Groningen, the Netherlands.; Kroes HY; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.; Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Kambouris M; Division of Genetics, Department of Pathology and Laboratory Medicine Department, Sidra Medicine, Doha, Qatar.; Anderson E; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; McDougall C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; O'Donnell-Luria A; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Valivullah Z; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Leary M; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.; Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Byers H; Department of Pediatrics, Stanford University, Stanford, CA, USA.; Leslie N; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Mazzola S; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA.; Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.; Vera M; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.; Shen JJ; Division of Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, USA; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, CA, USA.; Boles R; NeuraBilities Healthcare, Philadelphia, PA, USA.; Jain V; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, Cardiff CF14 7YU, UK.; Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France.; Kinning E; Clinical Genetics, Birmingham Women's and Children's, Birmingham, UK.; Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA.; Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Harris J; Kennedy Krieger Institute, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Keren B; Department of Genetics, APHP Sorbonne University, Paris, France.; Guimier A; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies Du Développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Marijon P; Laboratoire de Biologie Médicale Multisites Seqoia FMG2025, 75014 Paris, France.; Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Motter CS; Genetic Center, Akron Children's Hospital, Akron, OH, USA.; Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente, Oakland, CA, USA.; Coffino S; Department of Pediatric Neurology, Kaiser Permanente, Oakland, CA, USA.; Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Afenjar A; APHP Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales Du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Paris, France.; Visconti P; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy.; Bacchelli E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy.; Maestrini E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy.; Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France.; Gooch C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA.; Hendriks Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Adams H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.; Bertoli M; Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, UK.; Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.; Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, Canada.; Vernon HJ; Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Kaziyev J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Zhu J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Kremen J; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Osika H; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Breault D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Nair S; Department of Fetal Medicine, Lifeline Super Specialty Hospital, Kerala, India.; Lewis SME; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.; Ceroni F; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Viggiano M; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy.; Posar A; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Brittain H; Department of Clinical Genetics, Birmingham Women's & Children's NHS Trust, Birmingham, UK.; Giovanna T; Medical Genetics Unit, Meyer Children's Hospital IRCCS Florence, Florence, Italy.; Giulia G; Medical Genetics Unit,Meyer Children's Hospital IRCCS, Florence, Italy.; Quteineh L; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland.; Ha-Vinh Leuchter R; Division of Development and Growth, Department of Pediatrics, University of Geneva, Geneva, Switzerland.; Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Mellado C; Sección de Genética y Errores Congénitos Del Metabolismo, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile.; Marey I; CHU Grenoble Alpes, Grenoble, France.; Coudert A; CHU Grenoble Alpes, Grenoble, France.; Aracena Alvarez MI; Unit of Genetics and Metabolic Diseases, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.; Kennis MGP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Canada.; Amorós Rodríguez MI; Deparment of Pediatrics, Hospital Punta Europa Algeciras, Cadiz, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl.; Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; van Reeuwijk J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; de Leeuw N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Schuurs-Hoeijmakers J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; van Bon BW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Willemsen M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Vulto-van Silfhout AT; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Bert.deVries@radboudumc.nl.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE