부산대학교 도서관

van Slegtenhorst, Marjon; de Hoogt, Ronald; Hermans, Caroline; Nellist, Mark; Janssen, Bart; Verhoef, Senno; Lindhout, Dick; Van den Ouweland, Ans; Halley, Dicky; Young, Janet; Burley, Mariwyn; Jeremiah, Steve; Woodward, Karen; Nahmias, Joseph; Fox, Margaret; Ekong, Rosemary; Osborne, John; Wolfe, Jonathan; Povey, Sue; Snell, Russell G.; Cheadle, Jeremy P.; Jones, Alistair C.; Tachataki, Maria; Ravine, Dave; Sampson, Julian R.; Reeve, Mary Pat; Richardson, Paul; Wilmer, Frierderike; Munro, Cheryl; Hawkins, Trevor L.; Sepp, Tiina; Ward, Susannah; Green, Andrew J.; Kwiatkowska, Jolanta; Short, M. Priscilla; Haines, Jonathan H.; Jozwiak, Sergiusz; Kwiatkowski, David J.

Science, 1997 Aug 01. 277(5327), 805-808.

Hayesmoore JB; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Bhuiyan ZA; Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.; Coviello DA; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; du Sart D; Biological Sciences and Genomics, Monash University, Melbourne, VIC, Australia.; Edwards M; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.; Morris-Rosendahl DJ; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Sheils K; EMQN, Manchester, UK.; van Slegtenhorst M; Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Thomson KL; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. kate.thomson@ouh.nhs.uk.

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

Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy.; Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark.; Willems M; Département Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France.; Aledo-Serrano A; Epilepsy and Neurogenetics Program-Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain.; Linnankivi T; Department of Pediatric Neurology, New Children's Hospital and Pediatric Research Center, Epilepsia Helsinki, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Jepsen BS; Pediatric Department, Danish Epilepsy Center, Dianalund, Denmark.; Bayat M; Department of Neurology and Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Kattentidt-Mouravieva AA; Stichting Zuidwester, Middelharnis, Netherlands.; Vidal AA; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Valero-Lopez G; Neurology Department, Virgen de la Arrixaca University Hospital, Murcia, Spain.; Alarcon-Martinez H; Department of Pediatric Neurology, Virgen de la Arrixaca University Hospital, Murcia, Spain.; Goodspeed K; Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Johannesen KM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.; Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE

Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy.; Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark.; Willems M; Département Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France.; Aledo-Serrano A; Epilepsy and Neurogenetics Program-Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain.; Linnankivi T; Department of Pediatric Neurology, New Children's Hospital and Pediatric Research Center, Epilepsia Helsinki, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Jepsen BS; Pediatric Department, Danish Epilepsy Center, Dianalund, Denmark.; Bayat M; Department of Neurology and Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Kattentidt A; Genetic Department, Stichting Zuidwester, Middelharnis, Netherlands.; Vidal AA; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Valero-Lopez G; Neurology Department, Virgen de la Arrixaca University Hospital, Murcia, Spain.; Alarcon-Martinez H; Department of Pediatric Neurology, Virgen de la Arrixaca University Hospital, Murcia, Spain.; Goodspeed K; Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Johannesen KM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.; Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE

Renske Oegema; David Baillat; Rachel Schot; Leontine M van Unen; Alice Brooks; Sima Kheradmand Kia; A Jeannette M Hoogeboom; Zheng Xia; Wei Li; Matteo Cesaroni; Maarten H Lequin; Marjon van Slegtenhorst; William B Dobyns; Irenaeus F M de Coo; Debbie van den Berg; Frans W Verheijen; Andreas Kremer; Peter J van der Spek; Daphne Heijsman; Eric J Wagner; Maarten Fornerod; Grazia M S Mancini

PLoS Genetics, Vol 13, Iss 8, p e1006923 (2017)

O'Neill MJ; Vanderbilt University School of Medicine, Medical Scientist Training Program, Vanderbilt University, Nashville, Tennessee.; Chen SN; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; Rumping L; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Johnson R; Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Glazer AM; Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee.; Yang T; Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee.; Solus JF; Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee.; Laudeman J; Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee.; Mitchell DW; Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee.; Vanags LR; Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee.; Kroncke BM; Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee.; Anderson K; Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.; Gao S; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; Verdonschot JAJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Brunner H; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Hellebrekers D; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Taylor MRG; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Roden DM; Departments of Medicine, Pharmacology, and Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee.; Wessels MW; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Lekanne Dit Deprez RH; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Fatkin D; Molecular Cardiology Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, NSW, Australia; Cardiology Department, St. Vincent's Hospital, Sydney, NSW, Australia.; Mestroni L; Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; Shoemaker MB; Division of Cardiovascular Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee. Electronic address: moore.b.shoemaker@vumc.org.

Publisher: Elsevier Country of Publication: United States NLM ID: 101200317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-3871 (Electronic) Linking ISSN: 15475271 NLM ISO Abbreviation: Heart Rhythm Subsets: MEDLINE

Renske Oegema; David Baillat; Rachel Schot; Leontine M van Unen; Alice Brooks; Sima Kheradmand Kia; A Jeannette M Hoogeboom; Zheng Xia; Wei Li; Matteo Cesaroni; Maarten H Lequin; Marjon van Slegtenhorst; William B Dobyns; Irenaeus F M de Coo; Frans W Verheijen; Andreas Kremer; Peter J van der Spek; Daphne Heijsman; Eric J Wagner; Maarten Fornerod; Grazia M S Mancini

PLoS Genetics, Vol 13, Iss 5, p e1006809 (2017)

Julia Ware, MD; Charlotte K Boughton, PhD; Janet M Allen, RN; Malgorzata E Wilinska, PhD; Martin Tauschmann, PhD; Louise Denvir, MD; Ajay Thankamony, MPhil; Fiona M Campbell, MD; R Paul Wadwa, ProfMD; Bruce A Buckingham, ProfMD; Nikki Davis, MD; Linda A DiMeglio, ProfMD; Nelly Mauras, MD; Rachel E J Besser, PhD; Atrayee Ghatak, MD; Stuart A Weinzimer, ProfMD; Korey K Hood, ProfPhD; D Steven Fox, MD; Lauren Kanapka, MSc; Craig Kollman, PhD; Judy Sibayan, MPH; Roy W Beck, PhD; Roman Hovorka, ProfPhD; R Hovorka; C L Acerini; A Thankamony; J M Allen; C K Boughton; K Dovc; D B Dunger; J Ware; G Musolino; M Tauschmann; M E Wilinska; J F Hayes; S Hartnell; S Slegtenhorst; Y Ruan; M Haydock; J Mangat; L Denvir; SK Kanthagnany; J Law; T Randell; P Sachdev; M Saxton; A Coupe; S Stafford; A Ball; R Keeton; R Cresswell; L Crate; H Cripps; H Fazackerley; L Looby; H Navarra; C Saddington; V Smith; V Verhoeven; S Bratt; N Khan; L Moyes; K Sandhu; C West; R P Wadwa; G Alonso; G Forlenza; R Slover; L Towers; C Berget; A Coakley; E Escobar; E Jost; S Lange; L Messer; K Thivener; F M Campbell; J Yong; E Metcalfe; M Allen; S Ambler; S Waheed; J Exall; J Tulip; B A Buckingham; L Ekhlaspour; D Maahs; L Norlander; T Jacobson; M Twon; C Weir; B Leverenz; J Keller; N Davis; A Kumaran; N Trevelyan; H Dewar; G Price; G Crouch; R Ensom; L Haskell; LM Lueddeke; N Mauras; M Benson; K Bird; K Englert; J Permuy; K Ponthieux; J Marrero-Hernandez; L A DiMeglio; H Ismail; H Jolivette; J Sanchez; S Woerner; M Kirchner; M Mullen; M Tebbe; R EJ Besser; S Basu; R London; T Makaya; F Ryan; C Megson; J Bowen-Morris; J Haest; R Law; I Stamford; A Ghatak; M Deakin; K Phelan; K Thornborough; J Shakeshaft; S A Weinzimer; E Cengiz; J L Sherr; M Van Name; K Weyman; L Carria; A Steffen; M Zgorski; J Sibayan; R W Beck; S Borgman; J Davis; J Rusnak; A Hellman; P Cheng; L Kanapka; C Kollman; C McCarthy; S Chalasani; K K Hood; S Hanes; J Viana; M Lanning; D S Fox; G Arreaza-Rubin; T Eggerman; N Green; R Janicek; D Gabrielson; S H Belle; J Castle; J Green; L Legault; S M Willi; C Wysham

The Lancet: Digital Health, Vol 4, Iss 4, Pp e245-e255 (2022)

Sheppard SE; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.; Bryant L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wickramasekara RN; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Molecular Diagnostic Laboratory, Boys Town National Research Hospital, Omaha, NE, USA.; Vaccaro C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Robertson B; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Hallgren J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Hulen J; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Watson CJ; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.; Faundes V; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.; Duffourd Y; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Lee P; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Simon MC; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; de la Cruz X; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca I Estudis Avançats (ICREA), Barcelona, Spain.; Padilla N; Vall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.; Flores-Mendez M; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smiler J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; 10x Genomics, Pleasanton, CA, USA.; Pellegrino Da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; March M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Diaz-Rosado A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Peixoto de Barcelos I; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Choa ZX; Epithelial Epigenetics and Development Laboratory, ASTAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Lim CY; Epithelial Epigenetics and Development Laboratory, ASTAR Skin Research Labs, Singapore, Singapore.; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.; Demurger F; Department of Clinical Genetics, Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Mulhern M; Department of Pathology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Akman C; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Andrews M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Baldridge D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Constantino J; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.; Snoeck-Streef I; Department of Child Neurology, University Medical Center Utrecht, Utrecht, Netherlands.; Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Hing A; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA, USA.; Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.; Au M; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.; Faivre L; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon, Bourgogne, France.; Shen W; University of Utah, Salt Lake City, UT, USA.; Mayo Clinic, Rochester, MN, USA.; Mao R; University of Utah, Salt Lake City, UT, USA.; Palumbos J; University of Utah, Salt Lake City, UT, USA.; Viskochil D; University of Utah, Salt Lake City, UT, USA.; Gahl W; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Tifft C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Macnamara E; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Hauser N; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.; Miller R; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.; Maffeo J; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA, USA.; Afenjar A; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France.; Doummar D; AP-HP, Sorbonne Université, Département de neuropediatrie, Hospital Armand Trousseau, Paris, France.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France.; Arn P; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL, USA.; Macklin-Mantia S; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA.; Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.; Brewer C; Clinical Genetics Department, Royal Devon and Exeter Hospital (Heavitree), Exeter EX1 2ED, UK.; Saggar A; Clinical Genetics Department, St George's Hospital, St George's Healthcare NHS Trust, London SW17 0QT, UK.; Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.; Department of Pediatric Rehabilitation, University Hospital of North Norway, Norway.; Kumar A; Northeast Thames Regional Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK.; Elmslie F; South West Thames Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK.; Deshpande C; Department of Medical Genetics, Guy's Hospital, London SE1 9RT, UK.; Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Cogne B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France.; Nantes Université, CNRS, INSERM, L'institut du thorax, F-44000 Nantes, France.; van Ierland Y; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; Wilke M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; Koudijs S; Department of Neurology, Erasmus University Medical Center-Sophia Children's Hospital, P.O. Box 2040, 3000 CA Rotterdam, Netherlands.; Chen JY; Neurology Department, Massachusetts General Hospital, Boston, MA, USA.; Dredge D; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Pier D; Neurology Department, Massachusetts General Hospital, Boston, MA, USA.; Wortmann S; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Amalia Children's Hospital, RadboudUMC Nijmegen, Nijmegen, Netherlands.; Kamsteeg EJ; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Koch J; University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria.; Haynes D; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Pollack L; Division of Genetics, Arnold Palmer Hospital for Children-Orlando Health, Orlando, FL, USA.; Titheradge H; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.; Ranguin K; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France.; Denommé-Pichon AS; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Weber S; Department of Genetics, Reference Centre for Rare Diseases and Developmental Anomalies, Caen Hospital, Caen, France.; Pérez de la Fuente R; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.; Sánchez Del Pozo J; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.; Lezana Rosales JM; UDISGEN (Unidad de Dismorfología y Genética) 12 de Octubre University Hospital, Madrid, Spain.; Joset P; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; Steindl K; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; Rauch A; University of Zurich, Institute of Medical Genetics, 8952 Schlieren-Zurich, Switzerland.; University of Zurich, University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich, URPP Adaptive Brain Circuits in Development and Learning (AdaBD), Zurich, Switzerland.; University of Zurich Research Priority Program (URPP) AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich 8006, Switzerland.; University of Zurich Research Priority Program (URPP) ITINERARE: Innovative Therapies in Rare Diseases, Zurich 8006, Switzerland.; Mei D; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Mari F; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Guerrini R; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Lespinasse J; UF de Génétique Chromosomique, Centre Hospitalier de Chambéry, Hôtel-dieu, France.; Tran Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Philippe C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Dauriat B; Service de cytogénétique et génétique médicale, Centre Hospitalier Universitaire de Limoges, France.; Raymond L; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France.; Moutton S; Service de génétique, Laboratoire Eurofins Biomnis, Lyon, France.; Cueto-González AM; Hospital Vall d'Hebron, Barcelona, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Mignot C; AP-HP, Sorbonne Université, Département de Génétique, Paris, France.; Grotto S; AP-HP, Sorbonne Université, Département de Génétique, Paris, France.; Renaldo F; AP-HP, Sorbonne Université, Département de neuropediatrie, Centre de référence neurogénétique, Hôpital Armand Trousseau, Paris, France.; Drivas TG; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Hennessy L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Raper A; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Essener Zentrum für Seltene Erkrankungen (EZSE), Universitätsklinikum Essen, Essen, Germany.; Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Islam L; West Midlands Regional Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Trust, Birmingham B15 2TG, UK.; Siedlik JA; Department of Exercise Science and Pre-Health Professions, Creighton University, Omaha, NE, USA.; Henderson LB; GeneDx, Gaithersburg, MD, USA.; Juusola J; GeneDx, Gaithersburg, MD, USA.; Person R; GeneDx, Gaithersburg, MD, USA.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Department of Pediatrics, Division of Genetics Cooper Medical School of Rowan University Cooper University Health Care 3, Cooper Plaza, Camden, NJ, USA.; Vitobello A; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, Dijon, France.; Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Bhoj EJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Stessman HAF; Stessman Laboratory, Department of Pharmacology and Neuroscience, Creighton University Medical School, Omaha, NE, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.; Zhang J; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; State Key Laboratory of Bio-Organic and Natural Products Chemistry, Research Center of Chemical Kinomics, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Zeng X; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT.; Robert SM; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT.; Josiah SS; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom.; Kiziltug E; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT.; Denommé-Pichon AS; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France.; Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Kundishora AJ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT.; Hao LT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT.; Li H; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC.; Louie RJ; Greenwood Genetic Center, Greenwood, SC.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Torti E; GeneDx, Gaithersburg, MD.; Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; McWalter K; GeneDx, Gaithersburg, MD.; Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom.; Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom; Centre for Trials Research, Cardiff University, Cardiff, United Kingdom.; Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.; Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.; Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Reinson K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Ilves P; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Radiology, Tartu University Hospital, Tartu, Estonia.; Wentzensen IM; GeneDx, Gaithersburg, MD.; Barr EE; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA.; Guihard SH; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Groupe de Recherche Clinique, Déficience Intellectuelle et Autisme, Sorbonne University, Paris, France.; Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Genomic Informatics Group, University of Southampton, Southampton, United Kingdom.; Monaghan KG; GeneDx, Gaithersburg, MD.; Rio M; Developmental Brain Disorders laboratory, INSERM UMR 1163, Imagine Institute, University of Paris, Paris, France; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Necker Enfants Malades Hospital, APHP, Paris, France.; van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, Columbia University New York, NY.; Wilson A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY.; Quinquis D; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Bréhéret F; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Retterer K; GeneDx, Gaithersburg, MD.; Lindenbaum P; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Scalais E; Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.; Rhodes L; GeneDx, Gaithersburg, MD.; Stouffs K; Neurogenetics Research Group, Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan, Brussels, Belgium.; Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY.; Berger SM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY.; Milla SS; Department of Radiology and Imaging Sciences, School of Medicine, Emory University, Atlanta, GA.; Jaykumar AB; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX.; Cobb MH; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX.; Panchagnula S; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Duy PQ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT.; Vincent M; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Gilbert-Dussardier B; Service de Génétique, CHU Poitiers, Poitiers, France.; Le Guillou X; Service de Génétique, CHU Poitiers, Poitiers, France.; Audebert-Bellanger S; Génétique Médicale, CHRU Brest, Brest, France.; Odent S; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France.; Schmitt S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Boisseau P; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Bonneau D; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France.; Toutain A; Unité de Génétique Médicale, Centre Hospitalier Régional Universitaire de Tours, France; Unité Mixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France.; Colin E; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France.; Pasquier L; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France.; Redon R; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Friez MJ; Greenwood Genetic Center, Greenwood, SC.; Pérez-Peña H; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom.; Akhtar Rizvi SR; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom.; Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom; Centre for Advanced Research Computing, University College London, London, United Kingdom.; Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland.; Schwartz CE; Greenwood Genetic Center, Greenwood, SC.; Martínez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Kahle KT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; Department of Cellular and Molecular Physiology, Yale School of Medicine, Yale University, New Haven, CT; NIH-Yale Centers for Mendelian Genomics, Yale School of Medicine, Yale University, New Haven, CT; Yale Stem Cell Center, Yale School of Medicine, Yale University, New Haven, CT. Electronic address: kahle.kristopher@mgh.harvard.edu.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.

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