부산대학교 도서관

Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Jay KL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Rodan LH; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; High FA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Jangam S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Jay K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA.; Genetics and Genomics program, Baylor College of Medicine, Houston, Texas, 77030 USA.; Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA.; Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Rodan LH; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; High FA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA.; Genetics and Genomics program, Baylor College of Medicine, Houston, Texas, 77030 USA.; Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Wangler M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA.; Genetics and Genomics program, Baylor College of Medicine, Houston, Texas, 77030 USA.

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

Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: shiatt@hudsonalpha.org.; Trajkova S; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.; Sebastiano MR; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy.; Partridge EC; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Abidi FE; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Anderson A; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan.; Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.; Azadi A; Obestetrics and Gynecology Department, Golestan University of Medical Sciences, Gorgan, Iran.; Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland.; Bartuli A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Benech C; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France.; Berkowitz JL; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Betti MJ; Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Brusco A; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.; Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Caron G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy.; Chen Y; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Coleman TF; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Crenshaw MM; Pediatrics and Medical Genetics, University of Colorado, Aurora CO, USA.; Cuisset L; Service de Médecine Génomique des Maladies de Système et d'Organe, Département Médico-Universitaire BioPhyGen, Hôpital Cochin, APHP, Université Paris Cité, Paris, France.; Curry CJ; Genetic Medicine, UCSF/Fresno, Fresno, CA 93701, USA.; Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran; Nikagene Genetic Diagnostic Laboratory, Gorgan, Golestan, Iran.; Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Douglas J; Boston Children's Hospital, Boston, MA, USA.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Elloumi HZ; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Ermondi G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy.; Faoucher M; Service de Génétique Moléculaire et Génomique, CHU, Rennes 35033, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes 35000, France.; Farrow EG; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA.; Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Fisher H; Children's Medical Center, Dallas, TX, USA.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL 35806, USA.; Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Leadem BR; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Macchiaiolo M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Magner M; Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First faculty of Medicine, Charles University, Prague, Czech Republic.; Mandrile G; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, University of Torino, Orbassano, Italy.; Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; McEown M; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Meadows SK; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Medne L; Childrens Hospital of Philadelphia, Philadelphia, PA, USA.; Meeks NJL; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; Montgomery S; Division of Genetics and Metabolism, Children's Health, Dallas, TX, USA.; Napier MP; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Natowicz M; Pathology & Laboratory Medicine, Genomic Medicine, Neurological and Pediatrics Institutes, Cleveland Clinic, Cleveland, OH, USA.; Newberry KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Noskova L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.; Nowak CB; Boston Children's Hospital, Boston, MA, USA.; Noyes AG; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Pugh J; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Pullano V; Department of Medical Sciences, University of Torino, 10126 Torino, Italy.; Quélin C; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.; Rahimi-Aliabadi S; Department of Pharmacology and Toxicology, College of Pharmacy, University of Utah, Salt Lake City, UT 84112, USA.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich 8032, Switzerland.; Redon S; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France.; Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Schwager CR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; Sellars EA; Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.; Scheuerle AE; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Shukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia.; Skraban C; Childrens Hospital of Philadelphia, Philadelphia, PA, USA.; Stolerman E; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Sullivan BR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Thiffault I; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA.; Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France.; Umaña LA; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA.; van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; van der Crabben SN; Amsterdam University Medical Centers, Department of Clinical Genetics, Amsterdam, the Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, VU University Amsterdam, Amsterdam, The Netherlands; Amsterdam Neuroscience, Amsterdam, The Netherlands.; Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Rodan LH; Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA 02115, USA.; Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.

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

Huang Y; Lemire G; Briere LC; Liu F; Wessels MW; Wang X; Osmond M; Kanca O; Lu S; High FA; Walker MA; Rodan LH; Wangler MF; Yamamoto S; Kernohan KD; Sweetser DA; Boycott KM; Bellen HJ

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

Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.; Soucy A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.; El Achkar CM; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA.; Barkovich AJ; Department of Radiology, University of California, San Francisco, CA.; Cao Y; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO.; DiStefano M; Broad Institute of MIT and Harvard, Cambridge, MA; Precision Health Program, Geisinger, Danville, PA.; Evenson M; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO.; Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, Meyer Children's University Hospital, University of Florence, Florence, Italy.; Knight D; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA.; Lee YS; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Hospital, Memphis, TN.; Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.; Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Department of Pediatrics, University of Washington, Seattle, WA.; Mochida G; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA.; Patel M; Broad Institute of MIT and Harvard, Cambridge, MA.; Smith L; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA.; Spencer S; Division of Reproductive Genetics, Northwestern Medicine, Chicago, IL.; Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA.; Yang E; Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Yuskaitis CJ; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA.; Yu T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: timothy.yu@childrens.harvard.edu.; Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: annapurna.poduri@childrens.harvard.edu.

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

Thomas Q; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France. Electronic address: quentin.thomas@chu-dijon.fr.; Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Gautier T; University Grenoble Alpes, Inserm, CNRS, Institute for Advanced Biosciences, 38000 Grenoble, France.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Armed Forces College of Medicine, Cairo, Egypt.; Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Paccaud J; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Girodon F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Biology Division, Department of Biological Hematology, Dijon Hospital, 21000 Dijon, France.; Boespflug-Tanguy O; Université Paris Cité, UMR 1141 NeuroDiderot, Inserm, 75019 Paris, France; Service de Neuropédiatrie, reference center for leukodystrophies, APHP, Hopital Robert Debré, 75019 Paris, France.; Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Masson A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Denommé-Pichon AS; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France.; Trochu E; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Vignard V; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France.; El It F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Alkhateeb MA; Women Wellness and Research Center Hamad Medical Corporation, Doha, Qatar.; Jamra RA; Institute of Human Genetics, University Medical Center, Leipzig, Germany.; Duplomb L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Tisserant E; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Duffourd Y; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Bruel AL; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK.; Saggar A; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK; The Portland Hospital, 205-209 Great Portland St, London W1W 5AH, UK.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA 92093, USA.; Sievert D; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Bae H; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.; Kwon K; 3billion, Inc, Seoul, South Korea.; Seo GH; 3billion, Inc, Seoul, South Korea.; Lee H; 3billion, Inc, Seoul, South Korea.; Saeed A; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan.; Anjum N; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan.; Cheema H; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan.; Alawbathani S; CENTOGENE GmbH, 18055 Rostock, Germany.; Khan I; CENTOGENE GmbH, 18055 Rostock, Germany.; Pinto-Basto J; CENTOGENE GmbH, 18055 Rostock, Germany.; Teoh J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore.; Wong J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore.; Sahari UBM; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore.; Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Pannetier M; Service d'Hématologie cellulaire et hémostase bioclinique, CHU Rennes, Rennes, France.; Awad MA; Clinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute National Research Centre, Cairo, Egypt.; Lesieur-Sebellin M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France.; Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France.; Amiel J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France.; Delanne J; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Philippe C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Faivre L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Odent S; Service de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Univ Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, CNRS Inserm UMR 6290, ERL 1305, Univ Rennes, Rennes, France.; Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany.; Thauvin C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Centre de référence maladies rares « déficiences intellectuelles de causes rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.; Reversade B; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore; Medical Genetics Department, School of Medicine, Koç University, Istanbul, Turkey; Smart-Health Initiative, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.; Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Govin J; University Grenoble Alpes, Inserm, CNRS, Institute for Advanced Biosciences, 38000 Grenoble, France.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Vitobello A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. Electronic address: antonio.vitobello@u-bourgogne.fr.

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

Andzelm MM; Department of Neurology Children's Hospital Boston Boston Massachusetts USA.; Balasubramaniam S; Western Sydney Genetics Program The Children's Hospital at Westmead Sydney New South Wales Australia.; Department of Metabolic Medicine and Rheumatology Perth Children's Hospital Perth Western Australia Australia.; Yang E; Department of Radiology Children's Hospital Boston Boston Massachusetts USA.; Compton AG; Murdoch Children's Research Institute Melbourne Victoria Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.; Millington K; Division of Endocrinology, Department of Pediatrics Children's Hospital Boston Boston Massachusetts USA.; Zhu J; Division of Endocrinology, Department of Pediatrics Children's Hospital Boston Boston Massachusetts USA.; Anselm I; Department of Neurology Children's Hospital Boston Boston Massachusetts USA.; Rodan LH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics Children's Hospital Boston Boston Massachusetts USA.; Thorburn DR; Murdoch Children's Research Institute Melbourne Victoria Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.; Victorian Clinical Genetic Services Melbourne Victoria Australia.; Christodoulou J; Murdoch Children's Research Institute Melbourne Victoria Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.; Victorian Clinical Genetic Services Melbourne Victoria Australia.; Srivastava S; Department of Neurology Children's Hospital Boston Boston Massachusetts USA.

Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Velmans C; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany.; O'Donnell-Luria AH; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.; Argilli E; Brain Development Research Program, Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.; Tran Mau-Them F; UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Vitobello A; UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Chan MC; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong.; Fung JL; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong.; Rech M; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Abicht A; Medical Genetics Center (MGZ), Munich, Germany.; Aubert Mucca M; Department of Medical Genetics, University Hospital Centre Toulouse, Toulouse, Midi-Pyrénées, France.; Carmichael J; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA.; Chassaing N; Department of Medical Genetics, University Hospital Centre Toulouse, Toulouse, Midi-Pyrénées, France.; Clark R; Pediatrics Specialty Clinics, Loma Linda University Medical Center, Loma Linda, California, USA.; Coubes C; Department of Medical Genetics, University Hospital Center Montpellier, Montpellier, Languedoc-Roussillon, France.; Denommé-Pichon AS; UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; de Dios JK; Department of Medical Genetics, Dayton Children's Hospital, Dayton, Ohio, USA.; England E; Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute, Cambridge, Massachusetts, USA.; Funalot B; Department of Clinical Genetics, Hopital Henri Mondor, Creteil, Île-de-France, France.; Gerard M; Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, Basse-Normandie, France.; Joseph M; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA.; Kennedy C; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA.; Kumps C; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, VD, Switzerland.; Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Aarts-Tesselaar C; Department of Pediatrics, Amphia Hospital, Breda, North Brabant, Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.; Lehalle D; Department of Clinical Genetics, Hopital Henri Mondor, Creteil, Île-de-France, France.; Leppig K; Genetic Services, Kaiser Permanente Washington, Seattle, Washington, USA.; Lessmeier L; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany.; Pais LS; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA.; Paterson H; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Ramanathan S; Pediatrics Specialty Clinics, Loma Linda University Medical Center, Loma Linda, California, USA.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, VD, Switzerland.; Chung BHY; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong.; Sherr E; Brain Development Research Program, Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA.; Netzer C; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany.; Schaaf CP; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.; Erger F; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany florian.erger@uk-koeln.de.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Stephenson SEM; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.; Blok LER; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands.; Silk MA; Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, VIC 3052, Australia; Australia Cancer Research Funding Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC 3052, Australia; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia.; Nguyen TB; Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, VIC 3052, Australia; Australia Cancer Research Funding Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC 3052, Australia; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia.; Dong X; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Alhuzaimi DE; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Dowling JJ; Division of Neurology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Walker S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Amburgey K; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Neurology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Hayeems RZ; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.; Schwartz MA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, United States; Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, MA 02115, United States; Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA 02115, United States; Broad Institute of MIT and Harvard, Cambridge, MA 02115, United States.; Picker J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States; Department of Child and Adolescent Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Temple Street, Rotunda, Dublin D01 XD99, Ireland.; Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, United States.; Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States.; Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States; Otolaryngology-Head and Neck Surgery (Ear, Nose, and Throat), Mayo Clinic, Rochester, MN 55905, United States; Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, United States.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, United States; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States.; Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, United States; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States.; Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, United States.; Chilton I; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, United States.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, United States; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, United States.; Revah-Politi A; Institute for Genomic Medicine and Precision Genomics Laboratory, Columbia University Irving Medical Center, New York, NYk, 10032, United States.; Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Griffith C; Division of Pediatrics, University of South Florida, Tampa, FL 33620, United States.; Racobaldo M; Division of Pediatrics, University of South Florida, Tampa, FL 33620, United States.; Raas-Rothschild A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel; Institute of Rare Diseases, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.; Ben Zeev B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.; Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.; Moutton S; Centre Pluridisciplinaire de Diagnostic PréNatal, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, Nouvelle-Aquitaine 33401, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, Bourgogne-Franche-Comté 21000, France; INSERM U1231, Laboratoire de Neurosciences Cognitives, UMR 1231, Genetic of Development Anomalies, University of Burgundy, Dijon, Bourgogne-Franche-Comté 21078 France.; Morice-Picard F; Reference Center for Genetic, Complex, and Rare Skin Disorders, Department of Pediatric Dermatology, Bordeaux University Hospital, Bordeaux, Nouvelle-Aquitaine 33000, France.; Carmignac V; INSERM U1231, Laboratoire de Neurosciences Cognitives, UMR 1231, Genetic of Development Anomalies, University of Burgundy, Dijon, Bourgogne-Franche-Comté 21078 France.; Cornaton J; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, Bourgogne-Franche-Comté 21000, France.; Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, Bourgogne-Franche-Comté 21000 France.; Devinsky O; Neurology Department, New York University Langone Medical Center, New York, NY 10016, United States.; Stimach C; Department of Human Genetics, Emory Healthcare, Atlanta, GA 30322, United States.; Wechsler SB; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, 30322, United States; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, 30322, United States.; Hainline BE; Indiana University School of Medicine, Indianapolis, Indiana 46202, United States; Indiana University Health Physicians, Indiana University, Indianapolis, Indiana 46202, United States.; Sapp K; Indiana University School of Medicine, Indianapolis, Indiana 46202, United States; Indiana University Health Physicians, Indiana University, Indianapolis, Indiana 46202, United States.; Willems M; Reference Center for Developmental Disorders, Department of Medical Genetics, Arnaud de Villeneuve Hospital, Montpellier University Hospital, Montpellier, Occitanie 34295, France.; Bruel AL; Inserm UMR 1231, Genetics of Developmental Anomalies, University of Bourgogne, University Hospital Federation, Translational Medicine in Development Disorders, Dijon, Bourgogne-Franche-Comté 21078, France.; Dias KR; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia.; Evans CA; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia.; Roscioli T; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia; Centre for Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales 2031, Australia.; Sachdev R; Centre for Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales 2031, Australia; School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales, Sydney, New South Wales 2052, Australia.; Temple SEL; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Sydney, New South Wales 2031, Australia; Centre for Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales 2031, Australia.; Zhu Y; New South Wales Health Pathology East Laboratory, Prince of Wales Private Hospital, Sydney, NSW 2031, Australia; Newcastle Genetics of Learning Disability Service, Hunter Genetics, Newcastle, New South Wales 2298, Australia.; Baker JJ; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.; Scheffer IE; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC 3084, Australia.; Gardiner FJ; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC 3084, Australia.; Schneider AL; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC 3084, Australia.; Muir AM; Department of Pediatrics, University of Washington, Seattle, WA 98195, United States.; Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA 98195, United States.; Crunk A; GeneDx, Gaithersburg, MD 20877, United States.; Heise EM; GeneDx, Gaithersburg, MD 20877, United States.; Millan F; GeneDx, Gaithersburg, MD 20877, United States.; Monaghan KG; GeneDx, Gaithersburg, MD 20877, United States.; Person R; GeneDx, Gaithersburg, MD 20877, United States.; Rhodes L; GeneDx, Gaithersburg, MD 20877, United States.; Richards S; GeneDx, Gaithersburg, MD 20877, United States.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, United States.; Cogné B; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Isidor B; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Nizon M; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Vincent M; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Besnard T; Medical Genetic Services, The Thorax Institute, INSERM, Centre National de la Recherche Scientifique, University Hospital of Nantes, Nantes, Pays de la Loire 44007, France.; Piton A; Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, Illkirch-Graffenstaden 67000, France; Institute of Genetics and Molecular and Cellular Biology, INSERM U964, Centre National de la Recherche Scientifique, UMR 7104, University of Strasbourg, Illkirch-Graffenstaden, Grand Est 67400, France.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands.; Kato K; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Chubu 467-8601, Japan; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Chubu 464-860, Japan.; Koyama N; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Chubu 441-8570, Japan.; Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Chubu 464-860, Japan; Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Chubu 467-8601, Japan.; Goh ES; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON L5B 1B8, Canada.; Richmond C; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Amor DJ; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Boyce JO; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Morgan AT; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Hildebrand MS; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, VIC 3084, Australia.; Kaspi A; Population Health and Immunity Division, The Walter and Eliza Hall Institute for Medical Research, Melbourne, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.; Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute for Medical Research, Melbourne, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.; Friðriksdóttir R; deCODE Genetics, Amgen, Reykjavik 101, Iceland.; Katrínardóttir H; deCODE Genetics, Amgen, Reykjavik 101, Iceland.; Sulem P; deCODE Genetics, Amgen, Reykjavik 101, Iceland.; Stefánsson K; deCODE Genetics, Amgen, Reykjavik 101, Iceland; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.; Björnsson HT; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik 101, Iceland; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21218, United States.; Mandelstam S; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Department of Medical Imaging, The Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Morleo M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples 80138, Italy.; Mariani M; Department of Pediatrics, Azienda Socio Sanitaria Territoriale, Lariana Sant'Anna Hospital, San Fermo Della Battaglia, Como 22042, Italy.; Scala M; Department of Neurosciences, Rehabilitation, Opthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Liguria 16126, Italy; Istituto di Ricovero e Cura a Carattere Scientifico Giannina Gaslini Institute, Genoa, Liguria 16147, Italy.; Accogli A; Department of Neurosciences, Rehabilitation, Opthalmology, Genetics, and Maternal and Child Health, University of Genoa, Genoa, Liguria 16126, Italy; Istituto di Ricovero e Cura a Carattere Scientifico Giannina Gaslini Institute, Genoa, Liguria 16147, Italy.; Torella A; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.; Capra V; Istituto di Ricovero e Cura a Carattere Scientifico Giannina Gaslini Institute, Genoa, Liguria 16147, Italy.; Wallis M; Tasmanian Clinical Genetics Services, Royal Hobart Hospital, Hobart, Tasmania 7000, Australia.; Jansen S; Department of Human Genetics, Amsterdam University Medical Centers, Vrije Universiteit Medical Center Amsterdam, Amsterdam, the Netherlands.; Weisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, Vrije Universiteit Medical Center Amsterdam, Amsterdam, the Netherlands.; de Haan H; Department of Human Genetics, Amsterdam University Medical Centers, Vrije Universiteit Medical Center Amsterdam, Amsterdam, the Netherlands.; Sadedin S; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Lim SC; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; White SM; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Ascher DB; Structural Biology and Bioinformatics, Department of Biochemistry and Molecular Biology, University of Melbourne, Melbourne, VIC 3052, Australia; Australia Cancer Research Funding Facility for Innovative Cancer Drug Discovery, Bio21 Institute, University of Melbourne, Melbourne, VIC 3052, Australia; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, VIC 3004, Australia; Department of Biochemistry, University of Cambridge, Cambridge, England CB2 1GA, United Kingdom.; Schenck A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 6525, the Netherlands.; Lockhart PJ; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Christodoulou J; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia.; Tan TY; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia. Electronic address: tiong.tan@vcgs.org.au.

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: MEDLINE

Alecu JE; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Saffari A; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Jumo H; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Ziegler M; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Strelko O; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Gonzalez-Heydrich J; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Rodan LH; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Gorman MP; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Sahin M; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Ebrahimi-Fakhari D; Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE