부산대학교 도서관

Gillesse, Emma H; Wan, Miranda; Ashtiani, Setareh; Suchowersky, Oksana; Parboosingh, Jillian S; Bernier, Francois P; Lamont, Ryan E; Innes, A Micheil; Au, PY Billie

Neurogenetics; 2/9/2026, Vol. 27 Issue 1, p1-7, 7p

Quinodoz, Mathieu; Rutz, Sonja; Peter, Virginie; Garavelli, Livia; Innes, A Micheil; Lehmann, Elena F; Kellenberger, Stephan; Peng, Zhong; Barone, Angelica; Campos-Xavier, Belinda; Unger, Sheila; Rivolta, Carlo; Dutzler, Raimund; Superti-Furga, Andrea

EMBO Journal. Jan2025, Vol. 44 Issue 2, p413-436. 24p.

Mirzaa GM; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA. Ghayda.Mirzaa@seattlechildrens.org.; Yan K; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Levesque M; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada.; Jayasinghe P; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada.; Timpano S; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.; Yalcin B; INSERM UMR1231, University of Bourgogne, Dijon, France.; Collins S; INSERM UMR1231, University of Bourgogne, Dijon, France.; Ziegler A; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.; Pao E; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Oyama N; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brischoux-Boucher E; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; Piard J; Centre Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.; Monaghan KG; GeneDx, Gaithersburg, MD, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA.; Dobyns WB; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.; Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora CO, USA.; Fernández-Mayoralas DM; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain.; Fernández-Jaén A; Neuropediatric Department, Hospital Universitario Quirónsalud, Madrid, Spain.; Universidad Europea de Madrid, Madrid, Spain.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.; Palomares-Bralo M; INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.; Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Molecular Biotechnology Center 'Guido Tarrone', University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.; Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro, ' University of Palermo, Palermo, Italy.; Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Conrad S; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Deb W; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Stuurman KE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Štěrbová K; Department of Paediatric Neurology, Second Faculty of Medicine, Charles University and Motol Epilepsy Center, University Hospital Motol, Prague, Czech Republic.; Smal N; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Weckhuysen S; Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Innes AM; Departments of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Koboldt DC; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Ben-Omran T; Genetic and Genomic Medicine, Sidra, and Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar.; Yeh RC; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Papavasiliou A; IASO Children's Hospital, Athens, Greece.; Moutton S; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France.; Nambot S; Centre de Génétique Clinique, Centre de Référence Maladies Raes Anomalies du développement et Syndromes malformatifs, FHU TRANSLAD, INSERM UMR1231, CHU François Mitterrand, Dijon, France.; Chanprasert S; Division of Medical Genetics, University of Washington, Seattle, WA, USA.; Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Miller K; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Burton B; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Kim K; Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.; O'Heir E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT, Cambridge, MA, USA.; Bruwer Z; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Center for excellence in neuropsychiatry, Vincent van Gogh, Venray, Netherlands.; Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Angle B; Department of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA.; Bontempo K; Department of Genetics, Advocate Children's Hospital, Park Ridge, IL, USA.; Miny P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Demurger F; Service de Génétique, CHBA, Vannes, France.; Hobson E; Leeds Clinical Genomics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Pang L; Genomics Laboratory, Royal Devon and Exeter, Exeter, UK.; Carpenter L; Saint Francis Health System, Inc, Tulsa, OK, USA.; Li D; The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Bonneau D; Service de Génétique Médicale, CHU de Toulouse, Toulouse, France.; MitoVasc, UMR CNRS 6015-INSERM 1083, University of Angers, Angers, France.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Picketts DJ; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.; Department of Medicine, University of Ottawa, Ottawa, ON, Canada. dpicketts@ohri.ca.

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

Ng AC; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Division of Neurology, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta and Stollery Children's Hospital, Edmonton, Alberta, Canada.; D'Alfonso S; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Innes AM; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Scantlebury MH; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Harel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M; Innes, A Micheil; Keren, Boris; Macken, William L; Marcelis, Carlo; Otten, Catherine E; Paolucci, Sarah A; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D S; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani

Brain: A Journal of Neurology. Aug2024, Vol. 147 Issue 8, p2732-2744. 13p.

Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Barton M; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Cohen A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago 7830490, Chile.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes 7610671, Chile.; McKenna C; Northern Ireland Regional Genetics Service, Belfast BT9 7AB, Northern Ireland.; Shillington AL; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Phornphutkul C; Division of Human Genetics, Rhode Island Hospital, Providence, RI 0290, USA.; Hove HB; Member of ERNBond, Rare Diseases Unit, Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Richmond CM; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Herston, Queensland 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland 4215, Australia.; Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary AB T2N 1N4, Canada.; Ibrahim AIE; Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA.; Nava C; Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, Inserm, CNRS, Hôpital Pitié Salpêtrière, 75013 Paris, France.; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; Héron D; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University Sofia, Sofia 1431, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, Barcelona 08950, Spain.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Cassinari K; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Innes AM; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Yang XR; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich 80539, Germany.; Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ 85287, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ 85721, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Mester JL; GeneDx, Gaithersburg, MD 20877, USA.; Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Shepherdson, James L; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A; Amor, David J; Banka, Siddharth; Basel, Donald G; Buch, Laura D; Carere, Deanna Alexis; Carroll, Renée; Clayton-Smith, Jill; Crawford, Ali; Dunø, Morten; Faivre, Laurence; Gilfillan, Christopher P; Gold, Nina B; Gripp, Karen W; Hobson, Emma; Holtz, Alexander M; Innes, A Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Amel Riazat Kesh, Leila; Genomics England Research Consortium; Küry, Sébastien; Lecoquierre, François; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Németh, Andrea H; Østergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E; Schnur, Rhonda E; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P; Wadman, Erin; Wakeling, Emma; White, Susan M; Wong, Lawrence C; Lupski, James R; Lichtarge, Olivier; Corbett, Mark A; Gecz, Jozef; Nicolet, Charles M; Farnham, Peggy J; Kim, Cheol-Hee; Shinawi, Marwan

Genomics England Research Consortium 2024, 'Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt', American Journal of Human Genetics, vol. 111, no. 3, pp. 487-508. https://doi.org/10.1016/j.ajhg.2024.01.007

Elliott AM; Department of Medical Genetics, University of British Columbia, BC Children's Hospital Research Institute, Women's Health Research Institute, Vancouver, British Columbia, Canada.; Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

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

Margot H; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Pizano A; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France.; Amestoy A; Aquitaine Autism Resources Centre, Centre Hospitalier Charles-Perrens, University Pole of Child and Adolescent Psychiatry, Bordeaux, France.; Lacombe D; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Berges C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Beneteau C; Univ. Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Canada.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Wang Y; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Sams EI; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Slaugh R; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Crocker S; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Hurtado EC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Tracy S; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Hou YC; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Markovic C; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Valle K; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Tate V; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Belhassan K; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Appelbaum E; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Akinwe T; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Department of Anesthesiology, Washington University Pain Center, Washington University in St. Louis, St. Louis, MO, 63110, USA.; Starosta RT; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Cao Y; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Neilson A; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Liu Y; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Jensen N; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Ghasemi R; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Lindsay T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Manuel J; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Couteranis S; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Kremitzki M; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Ustanik J; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Antonacci T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Ng JK; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Emory A; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Metz L; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; DeLuca T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Lyons KN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Sinnwell T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Thomeczek B; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Wang K; Illumina, San Diego, CA, 92122, USA.; Sisneros N; Medgenome Laboratory, Foster City, CA, 94404, USA.; Muraleedharan M; Medgenome Laboratory, Foster City, CA, 94404, USA.; Kethireddy A; Medgenome Laboratory, Foster City, CA, 94404, USA.; Corbo M; Medgenome Laboratory, Foster City, CA, 94404, USA.; Gowda H; Medgenome Laboratory, Foster City, CA, 94404, USA.; King KA; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Gurnett CA; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Dutcher SK; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Gooch C; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Li YE; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Department of Neurosurgery, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Mitchell MW; Coriell Institute for Medical Research, Camden, NJ, 08103, USA.; Peterson KA; The Jackson Laboratory, Bar Harbor, ME, 04609, USA.; Horani A; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, 77021, USA.; Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Division of Pediatric Neurology and Developmental Neuroscience, Departments of Neuroscience and Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, 77024, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Puffenberger EG; Clinic for Special Children, Gordonville, PA, 17529, USA.; Pearson CE; The Hospital for Sick Children, Genetics & Genome Biology, Toronto, Ontario, Canada.; Kooy F; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Annear D; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Innes AM; Departments of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Heinz M; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Head R; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Fulton R; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Toutain S; Chromosome 9P Minus Network, Baton Rouge, LA, 70895, USA.; Antonacci-Fulton L; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Cui X; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Mitra RD; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Cole FS; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Neidich J; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Dickson PI; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Milbrandt J; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Needleman Center for Neurometabolism and Axonal Therapeutics, St. Louis, MO, USA.; Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA. tychele@wustl.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; McKenna C; Northern Ireland Regional Genetics Service, Belfast Health and Social Care Trust, Belfast, Ireland.; Stals K; Exeter Genomics Laboratory, Exeter, UK.; Vitobello A; CHU Dijon Bourgogne, Service de Génomique médicale-Centre NEOMICS, FHU Translad, Dijon, France, Dijon, France.; Université Bourgogne Europe-Inserm UMR1231 équipe GAD, Dijon, France.; Renaud M; Service de Génétique Clinique-Hôpital d'enfants-CHRU de Nancy, Nancy, France.; Service de Neurologie-Hôpital Central-CHRU de Nancy, Nancy, France.; INSERM U1256 NGERE-Nutrition-Génétique et Exposition aux Risques Environnementaux-Faculté de Médecine, Université de Lorraine, Nancy, France.; Rieubland C; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Guipponi M; Genetic Medicine, Diagnostic Department, Geneva University Hospitals, Geneva, Switzerland.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Philippe C; CHR Metz Thionville, Laboratoire de Génétique Médicale, Hôpital Mercy, Metz, France.; Vrana P; Department of Pathology and Laboratory Medicine, Precision Diagnostics Laboratory, Children's Hospital of Colorado, Aurora, Colorado, USA.; Gaskell A; Department of Pathology and Laboratory Medicine, Precision Diagnostics Laboratory, Children's Hospital of Colorado, Aurora, Colorado, USA.; Precision Medicine Institute, Children's Hospital Colorado, Aurora, Colorado, USA.; Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Ahrens-Nicklas R; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Bhoj E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Keller K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Chaudhari BP; Divisions of Neonatology, Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Stone BS; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Divisions of Genetics and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.

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

Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Rodriguez-Aliaga P; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Yuan W; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Franken L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Zajt K; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Hasan D; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Lee TT; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.; Hentschel A; Leibniz- Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund 44139, Germany.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary T2N 1N4, Canada.; Zheng B; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.; Julia Suh DS; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Krause J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Zhang X; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Trapane P; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.; Carroll R; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine-Jacksonville, Jacksonville, FL 32209, USA.; McClatchey M; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; Fry AE; Division of Cancer and Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.; All Wales Medical Genomics Service, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.; Wang L; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Giesselmann S; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Hoang H; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Baldridge D; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Silverman GA; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Bertini E; Neuromuscular Disorders, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Blood KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 2A1, Canada.; de Sainte Agathe JM; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Laboratoire de Médecine Génomique Sorbonne Université, LBM SeqOIA, Paris 75014, France.; Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne University, Paris 75005, France.; Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.; Čuturilo G; Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia, and University Children's Hospital, 11000 Belgrade, Serbia.; Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana 1000, Slovenia.; Diderich K; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, Netherlands.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.; van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht 3584 CX, Netherlands.; Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, MO 64108, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO 64108, USA.; Maier A; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Wolking S; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Weber Y; Department of Epileptology and Neurology, Medical Faculty, RWTH Aachen University, Aachen 52074, Germany.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Meyer S; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Aleman A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bangalore 560030, India.; Nicolas G; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Goldenberg A; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Guyant L; Univ Rouen Normandie, Normandie univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Neurogenetics Diorders, F-76000 Rouen, France.; Pope K; University of South Florida, College of Public Health, Tampa, FL 33612, USA.; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.; Hehmeyer KN; Nemours Children's Health, Department of Pediatrics, Division of Genetics, Orlando, FL 32827, USA.; Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.; Quade A; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.; Caumes R; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille 59000, France.; Duerinckx S; Department of Pediatric Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.; Depondt C; Department of Neurology, Hôpital Universitaire de Bruxelles, Hôpital Erasme, Université Libre de Bruxelles, Brussels 1070, Belgium.; Van Paesschen W; Laboratory for Epilepsy Research, KU Leuven, Leuven 3000, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven 3000, Belgium.; Rieubland C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Poloni C; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Guipponi M; Department of Genetic Medicine, University Hospitals of Geneva and University of Geneva Medical Faculty, Geneva 1205, Switzerland.; Arcioni S; Department of Medical Genetics, Central Institute of the Hospitals, Hospital of the Valais, Sion 1951, Switzerland.; Division of Medical Genetics, Central Institute of Hospitals, Valais Hospital, Sion 1951, Switzerland.; Meuwissen M; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.; Jansen AC; Department of Pediatrics, Division of Child Neurology, Antwerp University Hospital, University of Antwerp, Edegem 2650, Belgium.; Rosenblum J; Center of Medical Genetics, Antwerp University Hospital/ University of Antwerp, Edegem 2650, Belgium.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Gerstner L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Magg J; Department of Neuropediatrics, Developmental Neurology, Social Pediatrics, University Children's Hospital, University of Tübingen, Tübingen 72076, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany.; Schulz JB; Department of Neurology, University Hospital, RWTH Aachen University, Aachen 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Wagner N; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Wiesmann M; Department for Diagnostic and Interventional Neuroradiology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Roos A; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Department for Pediatric Neurology, University Medicine Essen, Duisburg-Essen University, 45147 Essen, Germany.; Institute of Neurology, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.; Häusler M; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Division of Pediatric Neurology and Social Pediatrics, Department of Pediatrics, University Hospital RWTH Aachen, Aachen 52074, Germany.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù IRCCS, Rome 00146, Italy.; Bremer J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Pak SC; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO 63110, USA.; Frydman J; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, 52074, Germany.; Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University Hospital, Aachen 52074, Germany.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Choufani S; McNiven V; Cytrynbaum C; Jangjoo M; Adam MP; Bjornsson HT; Harris J; Dyment DA; Graham GE; Nezarati MM; Aul RB; Castiglioni C; Breckpot J; Devriendt K; Stewart H; Banos-Pinero B; Mehta S; Sandford R; Dunn C; Mathevet R; van Maldergem L; Piard J; Brischoux-Boucher E; Vitobello A; Faivre L; Bournez M; Tran-Mau F; Maystadt I; Fernández-Jaén A; Alvarez S; García-Prieto ID; Alkuraya FS; Alsaif HS; Rahbeeni Z; El-Akouri K; Al-Mureikhi M; Spillmann RC; Shashi V; Sanchez-Lara PA; Graham JM Jr; Roberts A; Chorin O; Evrony GD; Kraatari-Tiri M; Dudding-Byth T; Richardson A; Hunt D; Hamilton L; Dyack S; Mendelsohn BA; Rodríguez N; Sánchez-Martínez R; Tenorio-Castaño J; Nevado J; Lapunzina P; Tirado P; Carminho Amaro Rodrigues MT; Quteineh L; Innes AM; Kline AD; Au PYB; Weksberg R

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

Mackley MP; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: michael.mackley@sickkids.ca.; Richer J; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.; Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON, Canada.; Caluseriu O; Department of Medical Genetics, Medical Genetics Clinic, University of Alberta, Edmonton, AB, Canada.; Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, BC, Canada.; Blood KA; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Bernier F; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Boswell-Patterson C; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.; Chard M; Discipline of Pediatrics, Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Costain G; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Dyment D; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.; Eaton A; Department of Medical Genetics, Medical Genetics Clinic, University of Alberta, Edmonton, AB, Canada.; Faghfoury H; Department of Medicine, Fred A Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and Toronto General Hospital, Toronto, ON, Canada.; Frosk P; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.; Gillespie MK; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.; Goh ES; Clinical Genetics, Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Hayeems RZ; Program in Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Hashemi B; Division of Medical Genetics, Department of Paediatrics, Royal University Hospital, Saskatoon, SK, Canada.; Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Jackson M; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Laberge AM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada; Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC Canada.; Limoges J; Faculty of Health Disciplines, Athabasca University, Athabasca, AB, Canada; Ontario Cancer Research Ethics Board, Ontario Institute for Cancer Research, Toronto, ON, Canada.; Marshall C; Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.; McMillan H; Division of Neurology, Department of Pediatrics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.; Nelson TN; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and BC Women's Hospitals, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.; Osmond M; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.; Parboosingh J; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Penney L; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS, Canada.; Prince B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Sawyer SL; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.; Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Thomas MA; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Turner L; Discipline of Pediatrics, Faculty of Medicine, Memorial University, St. John's, NL, Canada.; Villeneuve-Cloutier N; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.; Hartley T; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.; Boycott KM; Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Nava C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France. caroline.nava@aphp.fr.; Laboratoire SeqOIA, Paris, France. caroline.nava@aphp.fr.; Cogne B; Laboratoire SeqOIA, Paris, France.; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Santini A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245, Rouen, France.; Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Lecoquierre F; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Besnard T; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Heide S; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Baer S; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; Jakhar A; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104-UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Keren B; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.; Faudet A; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Forlani S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Faoucher M; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; GCS AURAGEN, Lyon, France.; Uguen K; Laboratoire SeqOIA, Paris, France.; Univ. Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Afenjar A; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, UF de Génétique Clinique, Hôpital Trousseau, Paris, France.; Alessandri JL; Service de Génétique, CHU de La Réunion, Saint-Pierre, France.; Andres S; Medicover München Ost MVZ Humangenetik, Munich, Germany.; Angelini C; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Aral B; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle Biologie, CHU de Dijon, Dijon, France.; Arveiler B; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Attie-Bitach T; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Aubert Mucca M; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Banneau G; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Barcia G; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Beneteau C; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Benkerdou F; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Bernard V; GCS AURAGEN, Lyon, France.; Bézieau S; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bonneau D; Department of Genetics, Angers University Hospital, Angers, France.; UMR CNRS 6214-INSERM 1083, Angers, France.; Bonnet-Dupeyron MN; Consultations de Génétique, Centre Hospitalier de Valence, Valence, France.; Boussion S; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Boute O; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Brischoux-Boucher E; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.; Bryen SJ; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Buratti J; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Busa T; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Caliebe A; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Capri Y; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Cassinari K; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Caumes R; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Cenni C; Service de Génétique Moléculaire, Chromosomique et Clinique, CHU de Nîmes, Nîmes, France.; Chambon P; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Charles P; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Christodoulou J; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Conrad S; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Cospain A; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; Coursimault J; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Courtin T; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Coutton C; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Creveaux I; GCS AURAGEN, Lyon, France.; CHU Clermont-Ferrand Department of Medical Biochemistry and Molecular Biology, Clermont-Ferrand, France.; D'Gama AM; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Dauriat B; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France.; de Sainte Agathe JM; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Laboratoire SeqOIA, Paris, France.; Del Gobbo G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Delahaye-Duriez A; Laboratoire SeqOIA, Paris, France.; Hôpitaux Universitaires de Paris Seine-Saint-Denis-APHP, UF de médecine génomique et génétique Clinique, Hôpital Jean Verdier, Bondy, France.; UFR Santé Médecine et Biologie Humaine, Université Sorbonne Paris Nord, Bobigny, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Delanne J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Denommé-Pichon AS; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Dieux-Coeslier A; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Do Souto Ferreira L; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Doco-Fenzy M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; GCS AURAGEN, Lyon, France.; Service de Génétique, CHU de Reims, Reims, France.; Drukewitz S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Duboc V; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.; Dubourg C; Laboratoire SeqOIA, Paris, France.; Laboratoire de Génétique Moléculaire et Génomique, FHU GenOMedS, CHU Rennes, Rennes, France.; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Duffourd Y; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; Elmaleh M; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU DREAM, Hôpital Robert Debré, Service de Radiologie Pédiatrique, Paris, France.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Fennelly S; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Fischer H; Sozialpädiatrisches Zentrum Konstanz, Konstanz, Germany.; Fradin M; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Galludec Vaillant C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Ganne B; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Chromosomique, CHU de Montpellier, Montpellier, France.; Ghoumid J; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia.; Gokce-Samar Z; Department of Epilepsy, Sleep and Pediatric Neurophysiology, Hospices Civils de Lyon, Lyon, France.; University of Lyon, Lyon, France.; Goldenberg A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Gonfreville Robert R; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Gorokhova S; GCS AURAGEN, Lyon, France.; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Aix Marseille University, INSERM, Marseille Medical Genetics, U1251, Marseille, France.; Goujon L; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Granier V; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Gras M; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Greally JM; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.; Greiten B; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Gueguen P; Laboratoire SeqOIA, Paris, France.; Service de Génétique, CHU de Tours, Tours, France.; Université de Tours, INSERM, Imaging Brain and Neuropsychiatry iBraiN U1253, Tours, France.; Guerrot AM; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Guha S; Molecular Diagnostics, New York Genome Center, New York City, NY, USA.; Guimier A; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hadj Abdallah H; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Halleb Y; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France.; Harbuz R; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Harris M; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Hentschel J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Héron B; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Hitz MP; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Department of Medical Genetics, Carl von Ossietzky University, Oldenburg, Germany.; Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Jadas V; Service de Pédiatrie, CHMS Chambéry, CAMSP Chambéry, Chambéry, France.; Januel L; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Jean-Marçais N; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Jobanputra V; Molecular Diagnostics, New York Genome Center, New York City, NY, USA.; Department of Pathology, Columbia University Irving Medical Center, New York City, NY, USA.; Jobic F; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France.; Jornea L; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Jost C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Julia S; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Essen Center for Rare Diseases (EZSE), Essen, Germany.; Kaschta D; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Ketteler P; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Department of Pediatrics III, University Hospital Essen, Essen, Germany.; Khadija B; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Higher Institute of Biotechnology of Monastir, University of Monastir, Monastir, Tunisia.; Cytogenetics, Molecular Genetics and Human Reproductive Biology Laboratory, Service of Genetics CHU Farhat Hached Sousse, Sousse, Tunisia.; Kilpert F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lackmy M; Unité de Génétique Clinique, Centre de Compétences Maladies Rares Anomalies du Développement, CHRU de Pointe à Pitre, Guadeloupe, France.; Laffargue F; Service de Génétique Médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.; Lambert L; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France.; Lamont R; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Laugel V; Service de Neuropédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Laurie S; Centro Nacional de Análisis Genómico (CNAG), Universitat de Barcelona (UB), Barcelona, Spain.; Lauzon JL; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Lebreton L; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Lebrun M; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.; Legendre M; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Leguern E; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Lehalle D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Lejeune E; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Lesca G; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM), UCBL, CNRS UMR5261-INSERM, U1315, Lyon, France.; Lesieur-Sebellin M; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Levy J; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Linglart A; Department of Endocrinology and Diabetology for Children, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France.; Department of Adolescent Medicine, Bicetre Paris-Saclay University Hospital, Le Kremlin Bicetre, France.; Paris Saclay University, Paris, France.; Lyonnet S; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Lüthy K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.; Mach C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Mandel JL; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; Mansour-Hendili L; Laboratoire SeqOIA, Paris, France.; Marcadier J; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Marin V; GCS AURAGEN, Lyon, France.; Service de Biochimie, Hôpital Pellegrin, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Margot H; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Marquet V; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Cytogénétique et Biologie de la Reproduction, CHU de Limoges, Limoges, France.; May A; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Mayr JA; University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria.; Meridda C; Service de Génétique, CHU Caen, Caen, France.; Michaud V; GCS AURAGEN, Lyon, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Michot C; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Nadeau G; Laboratoire de Cytogénétique, CH de Chambéry, Chambéry, France.; Naudion S; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Nguyen L; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Nizon M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Nowak F; Health Technologies Institute, Inserm, Paris, France.; Odent S; University of Rennes, CNRS, INSERM, IGDR (Institut de Génétique et Développement de Rennes)-UMR 6290, ERL U1305, Rennes, France.; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Olin V; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Osei-Owusu IA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Õunap K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Pasquier L; Service de Génétique Clinique, Centre de Référence 'Anomalies du Développement et Syndromes Malformatifs' de l'Inter-région Ouest, FHU GenOMedS, CHU Rennes Hôpital Sud, Rennes, France.; Passemard S; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Assistance Publique-Hôpitaux de Paris (AP-HP), DMU INOV-RDB, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris, France.; Pauly M; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Patat O; Service de Génétique Médicale, CHU Purpan, Toulouse, France.; Pensec M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Perrin-Sabourin L; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Petit F; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Philippe C; GCS AURAGEN, Lyon, France.; Laboratoire de Génétique Médicale, CHR Metz-Thionville, Hôpital Mercy, Metz, France.; Planes M; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Poirsier C; UF de Génétique clinique, CHU de Reims, Reims, France.; Pouzet A; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Prince B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Prouteau C; Department of Genetics, Angers University Hospital, Angers, France.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Racine C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Rama M; GCS AURAGEN, Lyon, France.; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Ramond F; GCS AURAGEN, Lyon, France.; Département de Génétique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France.; Ranguin K; Unité de Génétique-Centre Hospitalier Universitaire de Guadeloupe, Guadeloupe, France.; Raway M; Centre de Génétique Humaine-CHU Besançon, Université de Bourgogne-Franche-Comté, Besançon, France.; Reis A; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany.; Renaud M; Service de Génétique Clinique, CHRU Nancy, Vandoeuvre les Nancy, France.; INSERM U1256-NGERE, Faculté de Médecine, Université de Lorraine, Vandoeuvre les Nancy, France.; Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.; Richard AC; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Riera-Navarro L; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.; Rius R; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Rodriguez D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Neurologie Pédiatrique, Hôpital Armand Trousseau-La Roche Guyon, Fédération Hospitalo-Universitaire I2-D2, Paris, France.; Reference Center for Rare Diseases and Intellectual Deficiencies of Rare Causes, Paris, France.; Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Rondeau S; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Roser-Unruh A; LMU Klinikum-München, Munich, Germany.; Rougeot Jung C; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Lyon, France.; Safraou H; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Satre V; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Saugier-Veber P; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Sauvestre C; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Schaefer E; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA.; Schanze I; Institute of Human Genetics, Magdeburg, Germany.; Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany.; Department of Pediatrics, AMEOS Klinikum St. Clemens Oberhausen, Oberhausen, Germany.; Schlüter Martin A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Schluth-Bolard C; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France.; Schuhmann S; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Schröder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Sebastin M; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA.; Sigaudy S; Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France.; Spielmann M; Institute of Human Genetics, University Hospitals Schleswig-Holstein, University of Lübeck and Kiel University, Lübeck, Kiel, Germany.; Spodenkiewicz M; Department of Genetics, La Réunion University Hospital, Saint-Pierre, France.; St Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, New South Wales, Australia.; Steffann J; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Stoeva R; Service de Génétique Médicale, Centre Hospitalier du Mans, Le Mans, France.; Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Tarnopolsky MA; Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.; Todosi C; Centre de Référence des Epilepsies Rares (CRéER), CHRU Nancy, Vandoeuvre les Nancy, France.; Service de Médecine Infantile, CHRU, Vandoeuvre les Nancy, France.; Toutain A; Génétique Médicale, Centre Hospitalier Universitaire; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Tran Mau-Them F; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; INSERM UMR 1231, Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, Dijon, France.; Unterlauft A; Department of Neurology, University of Leipzig Medical Center, Leipzig, Germany.; Van-Gils J; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; INSERM U1211, University of Bordeaux, Bordeaux, France.; Vanlerberghe C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Vasileiou G; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen, University Hospital Erlangen, Erlangen, Germany.; Vera G; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Verdel A; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Verloes A; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Vial Y; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Vignal C; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; Vincent M; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Vincent-Delorme C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Vincent-Devulder A; Service de Génétique, CHU Caen, Caen, France.; Vitobello A; GCS AURAGEN, Lyon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Weber S; Service de Génétique, CHU Caen, Caen, France.; Willems M; Service de Génétique Médicale, CHU de Montpellier, Institute for Neurosciences of Montpellier, University of Montpellier, INSERM, Montpellier, France.; Zaafrane-Khachnaoui K; Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Inserm U1081, CNRS UMR7284, IRCAN, Nice, France.; Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany.; Zeltner L; Department of Neurology, University Hospital Tübingen, Tübingen, Germany.; Ziegler A; GCS AURAGEN, Lyon, France.; Service de Génétique, CRMR AnDDI-Rares, CHU Reims, Reims, France.; Galej WP; European Molecular Biology Laboratory, EMBL Grenoble, Grenoble, France.; Dollfus H; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), CHU Strasbourg, Strasbourg, France.; UMRS 1112, INSERM, Université de Strasbourg, Strasbourg, France.; Thauvin C; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Institut GIMI, Dijon, France.; Inserm UMR1231 GAD, Université Bourgogne, Dijon, France.; Laboratoire de Génomique Médicale-Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Marijon P; Laboratoire SeqOIA, Paris, France.; Lermine A; Laboratoire SeqOIA, Paris, France.; Malan V; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Rio M; Assistance Publique-Hôpitaux de Paris (APHP), Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants malades, Paris, France.; Université Paris Cité, INSERM, IHU Imagine-Institut des maladies génétiques, Paris, France.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Isidor B; Nantes Université, CHU de Nantes Service de Génétique Médicale, Nantes, France.; Drunat S; Laboratoire SeqOIA, Paris, France.; Assistance Publique-Hôpitaux de Paris (APHP), Département de Génétique, Hôpital Robert-Debré, Paris, France.; NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Smol T; Laboratoire SeqOIA, Paris, France.; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Chatron N; GCS AURAGEN, Lyon, France.; Genetics Department, Hospices Civils de Lyon, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PGNM), UCBL, CNRS UMR5261-INSERM, U1315, Lyon, France.; Piton A; Institute of Genetics and Cellular and Molecular Biology (IGBMC), INSERM-U964, CNRS-UMR7104, University of Strasbourg, Illkirch, France.; GCS AURAGEN, Lyon, France.; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Nicolas G; Laboratoire SeqOIA, Paris, France.; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Abnormalities, Rouen, France.; Wagner M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Munich University Hospital, Munich, Germany.; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Héron D; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Mignot C; Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique Médicale, Hôpital Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Blanc P; Laboratoire SeqOIA, Paris, France.; O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Charbonnier C; Univ. Rouen Normandie, Normandie Univ., Inserm U1245 and CHU Rouen, Department of Biostatistics and Reference Center for Developmental Abnormalities, Rouen, France.; Charenton C; CNRS, Inserm, Université de Strasbourg, IGBMC UMR 7104-UMR-S 1258, Illkirch, France.; Department of Integrated Structural Biology, IGBMC, Illkirch, France.; Thevenon J; GCS AURAGEN, Lyon, France.; Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, Grenoble, France.; Université Grenoble Alpes, INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; Depienne C; Laboratoire SeqOIA, Paris, France. christel.depienne@uk-essen.de.; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany. christel.depienne@uk-essen.de.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

de Kock L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Cuillerier A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Gillespie M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Couse M; The Centre for Computational Medicine, the Hospital for Sick Children (SickKids) Research Institute, Toronto, Ontario, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Mears W; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Bernier FP; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.; Chudley AE; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Frosk P; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Nikkel SM; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, British Columbia, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Innes AM; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.; Lauzon J; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.; Thomas M; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.; Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.; Armour CM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Weksberg R; Division of Clinical and Metabolic Genetics, Department of Paediatrics and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Scott JN; Departments of Diagnostic Imaging and Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.; Watkins D; Northeastern Ontario Medical Genetics Program, Health Sciences North, Greater Sudbury, Ontario, Canada.; Harvey S; Program of Genetics and Metabolism, Health Sciences Centre, Winnipeg, Manitoba, Canada.; Cytrynbaum C; Division of Clinical and Metabolic Genetics, Department of Genetic Counselling and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Ottawa, Ontario, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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

Aubry RL; Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Innes AM; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada.; Haber RM; Richmond Road Diagnostic and Treatment Centre (RRDTC), Calgary, AB, Canada.

Publisher: SAGE Publications Country of Publication: England NLM ID: 101638686 Publication Model: eCollection Cited Medium: Print ISSN: 2050-313X (Print) Linking ISSN: 2050313X NLM ISO Abbreviation: SAGE Open Med Case Rep Subsets: PubMed not MEDLINE

Almousa H; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Lewis SA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bakhtiari S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Nordlie SH; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Pagnozzi A; CSIRO Health and Biosecurity, The Australian e-Health Research Centre, Brisbane 4029, Australia.; Magee H; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Heim JA; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Cornejo P; Pediatric Neuroradiology Division, Pediatric Radiology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.; Department of Radiology, Mayo Clinic, Scottsdale, AZ 85259, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12622, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo 4460015, Egypt.; Anwar N; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Maqbool S; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Rahman F; Department of Developmental-Behavioural Paediatrics, The Children's Hospital and Institute of Child Health, Lahore 54000, Pakistan.; Neilson DE; Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Vemuri A; Department of Pathology, University of Chicago, Chicago, IL 60637, USA.; Jin SC; Department of Genetics, Washington University, St.Louis, MO 63110, USA.; Yang XR; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada.; Heidari A; Reference Laboratory, Qazvin Medical University, Qazvin 34148-33245, Iran.; van Gassen K; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Trimouille A; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, CHU Bordeaux-Hôpital Pellegrin, Place Amélie Raba Léon, 33000 Bordeaux, France.; Thauvin-Robinet C; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.; Liu J; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; GAD 'Génétique des Anomalies du Développement', INSERM-Université de Bourgogne UMR1231, 21078 Dijon, France.; Tomoum H; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.; Shata MO; Department of Pediatrics, Ain Shams University, Cairo 11516, Egypt.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Neuroscience Research Center, Mashhad University of Medical Science, Mashhad 13944-91388, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St.George's, University of London, London SW17 0RE, UK.; Yeşil G; Istanbul Medical Faculty Department of Medical Genetics, Istanbul University, Istanbul 34452, Turkey.; Lingappa L; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.; Baruah D; Pediatric Neurology, Rainbow Children Hospital, Hyderabad 500034, India.; Ebrahimzadeh F; Department of Internal Medicine, Mashhad University of Medical Sciences, Mashhad 13944-91388, Iran.; Van-Gils J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Faivre L; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz 6155889467, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135733118, Iran.; Mohammad R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; van der Smagt J; Division of Laboratories, Pharmacy and Biomedical Genetics, Section of Clinical Genetics, University Medical Center Utrecht (UMCU), 3584 CX Utrecht, Netherlands.; Qari A; Medical Genomics Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.; Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON M6J 1H4, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, S.W. Calgary, AB T2N 4N1, Canada.; Dursun A; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Özgül RK; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Akar HT; Department of Pediatric Metabolism, Hacettepe University, Faculty of Medicine & Institute of Child Health, Ankara 06800, Turkey.; Bilguvar K; Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Department of Neurosurgery and Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.; Mignot C; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75012 Paris, France.; Keren B; Département de Génétique, APHP Sorbonne Université, Hôpital Trousseau & Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France.; Raveli C; APHP Sorbonne Université, Service de Neuropédiatrie, Hôpital Trousseau, 75012 Paris, France.; Burglen L; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France.; Afenjar A; Département de Génétique, Centre de référence des malformations et maladies congénitales du cervelet, APHP. Sorbonne Université, Hôpital Trousseau, 75012 Paris, France.; Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, 3000 Rotterdam, The Netherlands.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Padilla-Lopez S; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Sacher M; Department of Biology, Concordia University, Montreal, Quebec H4B1R6, Canada.; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A0C7, Canada.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Barton M; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada.; Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Cohen A; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile 7830490.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes, Chile 7610671.; McKenna C; Northern Ireland Regional Genetics Service, Belfast, Belfast BT9 7AB, Northern Ireland.; Shillington AL; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Phornphutkul C; Rhode Island Hospital, Providence, RI 0290, USA.; Hove HB; Rare Diseases Unit, Dept. of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. Member of ERNBond.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Richmond CM; Royal Brisbane & Women's Hospital, Herston, Queensland, 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland, 4215, Australia.; Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.; Ibrahim AIE; Brody school of medicine, Greenville, NC 27834, USA.; Nava C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Hôpital Pitié Salpêtrière, Paris, France.; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Héron D; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.; Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University-Sofia, Sofia, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.; Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, 08950, Barcelona, Spain.; Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Cassinari K; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Guerrot AM; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Innes AM; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Yang XR; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, M13 9WL Manchester, UK.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80539, Munich, Germany.; Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 81675, Munich, Germany.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ, 85287, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ, 85721, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Mester JL; GeneDx, Gaithersburg, MD, 20877, USA.; Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada.; Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Stolz, Jacob; Foote, Kendall; Veenstra-Knol, Hermine; Pfundt, Rolph; ten Broeke, Sanne; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin; Lawson, John; Lunke, Sebastian; Christodoulou, John; Louie, Raymond; Rogers, R Curtis; Davis, Jessica; Innes, a Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela; Peeters-Scholte, Cacha; Ruivenkamp, Claudia; van Bon, Bregje; Kennedy, Joanna; Low, Karen; Ellard, Sian; Pang, Lewis; Junewick, Joseph; Mark, Paul; Carvill, Gemma; Swanson, Geoffrey

American Journal of Human Genetics, 108, 9, pp. 1692-1709
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D, Ruivenkamp, C A L, van Bon, B W, Kennedy, J, Low, K J, Ellard, S, Pang, L, Junewick, J J, Mark, P R, Carvill, G L & Swanson, G T 2021, 'Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders', American Journal of Human Genetics, vol. 108, no. 9, pp. 1692-1709. https://doi.org/10.1016/j.ajhg.2021.07.007