부산대학교 도서관

Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Karimi K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Lauzon-Young C; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON, Canada; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON, Canada.; White-Brown AM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Richer J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Armour CM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Tedder ML; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Skinner CD; Greenwood Genetic Center, Greenwood, SC 29646, USA.; van Rooij IALM; Department IQ Health, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; van de Putte R; Department IQ Health, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; de Blaauw I; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.; Koeck RM; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands.; Hoischen A; Department of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.; Brunner H; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands; Department of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands.; Esteki MZ; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands; Department of Genetics and Cell Biology, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands.; Pelet A; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France.; Lyonnet S; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institut National de La Santé et de La Recherche Médicale (INSERM) UMR 1163, Institut Imagine and Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.

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

Nabavi Nouri M; Division of Neurology, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada.; Children's Health Research Institute, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Alandijani L; Division of Neurology, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada.; van Engelen K; Division of Genetics, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada.; Tole S; Division of Hematology and Oncology, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada.; Lalonde E; Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada.; Balci TB; Children's Health Research Institute, London Health Sciences Centre, London, ON N6A 5W9, Canada.; Division of Genetics, Department of Paediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5A5, Canada.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada. Electronic address: thartley@cheo.on.ca.; Marshall D; University of Calgary, Calgary, Canada.; Acker M; Hospital for Sick Children, Toronto, Canada.; Fooks K; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Price EM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Graham ID; University of Ottawa, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada.; White-Brown A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; MacKay L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Macdonald SK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Brady L; McMaster Children's Hospital, McMaster University, Hamilton, Canada.; Hui AY; Kingston Health Sciences Center, Queen's University, Kingston, Canada.; Andrews JD; London Health Sciences Centre, Western University, London, Canada.; Chowdhury A; London Health Sciences Centre, Western University, London, Canada.; Wall E; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Soubry É; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Ediae GU; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Rojas S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Assamad D; University of Toronto, Toronto, Canada.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Tarnopolsky M; McMaster Children's Hospital, McMaster University, Hamilton, Canada.; Sawyer SL; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Chisholm C; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Lemire G; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada.; Amburgey K; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Lazier J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Mendoza-Londono R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Dowling JJ; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Balci TB; London Health Sciences Centre, Western University, London, Canada.; Armour CM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Bhola PT; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Costain G; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Dupuis L; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Carter M; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Badalato L; Kingston Health Sciences Center, Queen's University, Kingston, Canada.; Richer J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Boswell-Patterson C; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Kannu P; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada; The Ottawa Hospital, Ottawa, Canada.; Cordeiro D; University of Toronto, Toronto, Canada.; Warman-Chardon J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada; University of Alberta, Edmonton, Alberta, Canada.; Graham G; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Siu VM; London Health Sciences Centre, Western University, London, Canada.; Cytrynbaum C; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Rusnak A; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada; Kingston Health Sciences Center, Queen's University, Kingston, Canada.; Aul RB; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Yoon G; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Gonorazky H; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; McNiven V; University of Toronto, Toronto, Canada.; Mercimek-Andrews S; University of Toronto, Toronto, Canada; University of Toronto, Toronto, Canada.; Guerin A; Kingston Health Sciences Center, Queen's University, Kingston, Canada.; Deshwar AR; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Marwaha A; University of Calgary, Calgary, Canada; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada; The Ottawa Hospital, Ottawa, Canada.; Weksberg R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Karp N; London Health Sciences Centre, Western University, London, Canada.; Campbell M; Kingston Health Sciences Center, Queen's University, Kingston, Canada.; Al-Qattan S; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Shuen AY; University of Toronto, Toronto, Canada; McMaster Children's Hospital, McMaster University, Hamilton, Canada; London Health Sciences Centre, Western University, London, Canada.; Inbar-Feigenberg M; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Cohn R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Szuto A; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Inglese C; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Poirier M; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Chad L; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada.; Potter B; University of Ottawa, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Hayeems R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada. Electronic address: robin.hayeems@sickkids.ca.

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

Li D; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Battig MR; Center for Applied Genomics, and.; Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bosch DG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Granger L; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.; Petersen AK; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA.; Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain.; Aznar-Laín G; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Aneja A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Schwarz M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Kremlikova Pourova R; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Keena BA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; March ME; Center for Applied Genomics, and.; Hou C; Center for Applied Genomics, and.; O'Connor N; Center for Applied Genomics, and.; Bhoj EJ; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Harr MH; Center for Applied Genomics, and.; Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Towne M; Ambry Genetics, Aliso Viejo, California, USA.; Li M; Invitae, San Francisco, California, USA.; Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.; Brady L; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada.; Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom.; Faghfoury H; University Health Network, Toronto, Ontario, Canada.; Parsley LK; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Lai K; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and.; Iacomino M; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.; Zara F; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy.; Cooper A; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA.; Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA.; Byler M; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.; Lebel RR; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA.; Balci TB; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada.; Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Lyons M; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Nowak C; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA.; Afenjar A; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Keren B; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France.; Maas SM; Department of Human Genetics, Academic Medical Center, and.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.; Rabani AM; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA.; McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.; Falk MJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics.; Ruggiero SM; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Helbig I; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Møller RS; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Tessarollo L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Tomassoni Ardori F; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Palko ME; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Ganapathi M; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.; Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA.; Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA.; Wilson A; New York Genome Center, New York, New York, USA.; Greally J; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.; Jacquemont S; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.; Jizi K; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.; Bruel AL; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France.; Quelin C; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France.; Misra VK; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA.; Chick E; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.; Greco D; Oasi Research Institute-IRCCS, Troina, Italy.; Arena A; Oasi Research Institute-IRCCS, Troina, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.; Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Tashiro K; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan.; Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.; Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; Wagner M; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.; Kutsche B; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany.; Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Randolph L; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA.; Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.; Shashi V; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA.; Higginbotham EJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and.; Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Carnevale A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Khan T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Funalot B; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France.; Tran Mau-Them F; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; Fernandez Garcia Moya L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Chad L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Quercia N; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA.; Li C; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.; Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.; Kelley M; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA.; Nizon M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Gorokhova S; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.; Busa T; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France.; Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Hadj Habdallah H; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Amiel J; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Pingault V; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Mercier S; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Vincent M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Philippe C; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; Fatus-Fauconnier C; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France.; Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; Halligan RK; Metabolic Clinic, and.; Biswas S; Metabolic Clinic, and.; Rosser J; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Shoubridge C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Corbett M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Barnett C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.; Leppig K; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA.; Slavotinek A; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Cogne B; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Rambaud T; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France.; Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Sczakiel HL; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Max Planck Institute for Molecular Genetics, RG Development & Disease, Ihnestr. 63-73, 14195, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, Charitéplatz 1, 10117, Berlin, Germany.; Zhao M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Max Planck Institute for Molecular Genetics, RG Development & Disease, Ihnestr. 63-73, 14195, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.; Wollert-Wulf B; Biology of Malignant Lymphomas, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, 13125, Germany.; Experimental and Clinical Research Center, a cooperation between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and the Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany.; Hematology, Oncology and Cancer Immunology, Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany.; Danyel M; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Charitéplatz 1, 10117, Berlin, Germany.; Ehmke N; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.; Stoltenburg C; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Sozialpädiatrisches Zentrum Neuropädiatrie, Augustenburger Platz 1, 13353, Berlin, Germany.; Damseh N; Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine.; Al-Ashhab M; Department of Pediatrics and Genetics, Al Makassed Hospital and Al-Quds University, Jerusalem, Palestine.; Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, Western University, London, ON, Canada.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Andrade A; Division of Pediatric Neurology, London Health Sciences Centre, Western University, London, ON, Canada.; Schallner J; Department of Sozialpaediatrisches Zentrum, Klinik fuer Kinder und Jugendmedizin, Universitaetsklinikum Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.; Porrmann J; Institute for Clinical Genetics, Universitätsklinikum, Technischen Universität Dresden, Dresden, Germany.; McDonald K; Pediatric Neurology, University of Mississippi Medical Center, Jackson, MS, USA.; Liao M; GeneDx, LLC, Gaithersburg, MD, 20877, USA.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Dierksen N; Evangelisches Krankenhaus Oberhausen, Oberhausen, Germany.; Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Eslahi A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Bakaeean B; Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.; Calame DG; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Firoozfar Z; Palindrome, Isfahan, Iran.; Seyedhassani SM; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran.; Mohammadi SA; Meybod Genetics Research Center, Yazd, Iran.; Yazd Welfare Organisation, Yazd, Iran.; Anwaar N; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences and The Children's Hospital, Lahore, Pakistan.; Rahman F; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences and The Children's Hospital, Lahore, Pakistan.; Seelow D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.; Janz M; Biology of Malignant Lymphomas, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, 13125, Germany.; Experimental and Clinical Research Center, a cooperation between the Max Delbrück Center for Molecular Medicine in the Helmholtz Association and the Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany.; Hematology, Oncology and Cancer Immunology, Charité - Universitätsmedizin Berlin, Berlin, 13125, Germany.; Horn D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany.; Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London, WC1N 3BG, UK.; Boschann F; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Augustenburger Platz 1, 13353, Berlin, Germany. felix.boschann@charite.de.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany. felix.boschann@charite.de.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Clinician Scientist Program, Charitéplatz 1, 10117, Berlin, Germany. felix.boschann@charite.de.

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

Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA.; Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Callewaert B; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium.; Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Cross L; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Demetriou K; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Drazba K; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Edwards M; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia.; Genetti CA; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.; Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France.; Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Lachman HM; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA.; Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Marcelis C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Marco EJ; Cortica Healthcare, Marin Center, San Rafael, California, USA.; Martinez-Agosto JA; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Nowak C; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Planes M; Service de Génétique Clinique, University Hospital Morvan, Brest, France.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA.; Russell BE; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Schmalz B; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA.; Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Jansen S; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.

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

Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Soubry É; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Acker M; Hospital for Sick Children, Toronto, Canada.; University of Toronto, Toronto, Canada.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Couse M; Hospital for Sick Children, Toronto, Canada.; Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Ito Y; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Marshall AE; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Lemire G; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Huang L; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Chisholm C; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Eaton AJ; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; University of Alberta, Edmonton, Canada.; Price EM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Dowling JJ; Hospital for Sick Children, Toronto, Canada.; University of Toronto, Toronto, Canada.; Ramani AK; Hospital for Sick Children, Toronto, Canada.; Mendoza-Londono R; Hospital for Sick Children, Toronto, Canada.; University of Toronto, Toronto, Canada.; Costain G; Hospital for Sick Children, Toronto, Canada.; University of Toronto, Toronto, Canada.; Axford MM; Hospital for Sick Children, Toronto, Canada.; University of Toronto, Toronto, Canada.; Szuto A; Hospital for Sick Children, Toronto, Canada.; McNiven V; Hospital for Sick Children, Toronto, Canada.; University Health Network, Toronto, Canada.; Damseh N; Hospital for Sick Children, Toronto, Canada.; Jobling R; Hospital for Sick Children, Toronto, Canada.; de Kock L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Mojarad BA; Hospital for Sick Children, Toronto, Canada.; Young T; Hospital for Sick Children, Toronto, Canada.; University of Toronto, Toronto, Canada.; Shao Z; University of Toronto, Toronto, Canada.; North York General Hospital, Toronto, Canada.; Hayeems RZ; University of Toronto, Toronto, Canada.; Graham ID; University of Ottawa, Ottawa, Canada.; Ottawa Hospital Research Institute, Ottawa, Canada.; Tarnopolsky M; McMaster Children's Hospital, Hamilton, Canada.; Brady L; McMaster Children's Hospital, Hamilton, Canada.; Armour CM; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Geraghty M; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Richer J; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Sawyer S; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Lines M; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Mercimek-Andrews S; Hospital for Sick Children, Toronto, Canada.; University of Alberta, Edmonton, Canada.; Carter MT; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Graham G; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Kannu P; Hospital for Sick Children, Toronto, Canada.; University of Alberta, Edmonton, Canada.; Lazier J; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Li C; McMaster Children's Hospital, Hamilton, Canada.; Aul RB; Hospital for Sick Children, Toronto, Canada.; University of Toronto, Toronto, Canada.; Balci TB; London Health Sciences Center, Western University, London, Canada.; Dlamini N; Hospital for Sick Children, Toronto, Canada.; Badalato L; Kingston Health Sciences Center, Queen's University, Kingston, Canada.; Guerin A; Kingston Health Sciences Center, Queen's University, Kingston, Canada.; Walia J; Kingston Health Sciences Center, Queen's University, Kingston, Canada.; Chitayat D; Hospital for Sick Children, Toronto, Canada.; Mount Sinai Hospital, Toronto, Canada.; Cohn R; Hospital for Sick Children, Toronto, Canada.; Faghfoury H; University Health Network, Toronto, Canada.; Forster-Gibson C; Trillium Health Partners, Mississauga, Canada.; Gonorazky H; Hospital for Sick Children, Toronto, Canada.; Grunebaum E; Hospital for Sick Children, Toronto, Canada.; Inbar-Feigenberg M; Hospital for Sick Children, Toronto, Canada.; Karp N; London Health Sciences Center, Western University, London, Canada.; Morel C; University Health Network, Toronto, Canada.; Rusnak A; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Kingston Health Sciences Center, Queen's University, Kingston, Canada.; Sondheimer N; Hospital for Sick Children, Toronto, Canada.; Warman-Chardon J; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; The Ottawa Hospital, Ottawa, Canada.; Bhola PT; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Bourque DK; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Chacon IJ; Hospital for Sick Children, Toronto, Canada.; Chad L; Hospital for Sick Children, Toronto, Canada.; University of Toronto, Toronto, Canada.; Chakraborty P; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Chong K; Mount Sinai Hospital, Toronto, Canada.; Doja A; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Goh ES; Trillium Health Partners, Mississauga, Canada.; Saleh M; London Health Sciences Center, Western University, London, Canada.; Potter BK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Marshall CR; Hospital for Sick Children, Toronto, Canada.; University of Toronto, Toronto, Canada.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Kernohan K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; University of Ottawa, Ottawa, Canada.; Children's Hospital of Eastern Ontario, Ottawa, Canada.

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

Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Pranckeviciene E; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.; Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Biamino E; Department of Pediatrics, University of Turin, Turin, Italy.; Palomares Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Clarke A; Cardiff University School of Medicine, Cardiff, UK.; DuPont BR; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Elting MW; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Faivre L; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Fee T; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Ferilli M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Fletcher RS; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Cherick F; Genetic Medical Center, CHU Clermont Ferrand, France.; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France.; Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Hilton BA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Jenkins Z; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Kaur S; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Lewis S; BC Children's and Women's Hospital and Department of Medical Genetics, Faculty of Medicine, University of British Columbia.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy.; Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Morgan AT; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Pallares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.; Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.; Plomp AS; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Poulton C; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Robertson S; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Rousseau J; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.; Santen GWE; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Schijns J; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Squeo GM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; John MS; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Thauvin-Robinet C; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital D'Enfants, CHU Dijon Bourgogne, Dijon, France.; Traficante G; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; van der Sluijs PJ; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Vos N; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Walden KK; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Azmanov D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Australia.; Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada.; Banka S; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.; Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, Australia.; South Australian Health and Medical Research Institute, Adelaide, Australia.; Henneman P; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.; Siu V; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada.; Amor DJ; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Baynam G; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Division of Paediatrics and Telethon Kids Institute, Faculty of Health and Medical Sciences, Perth, Australia.; Bend EG; PreventionGenetics, Marshfield, Wisconsin, USA.; Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Campeau PM; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.; Campion D; INSERM U1245, Faculté de Médecine, Rouen, France.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Esber N; KAT6A Foundation, New York, New York, USA.; Fahrner JA; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.; Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.; Genevieve D; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France.; Heron D; AP-HP, Département de Génétique Médicale, Groupe Hospitalier Pitié Salpétrière, Paris, France.; Husson T; Department of Genetics and Reference Center for Developmental Disorders, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.; McNeill A; Department of Neuroscience, University of Sheffield, UK, and Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.; Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy.; Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba and Program in Genetics and Metabolism, Shared Health MB, Winnipeg, Manitoba, Canada.; Schwartz C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Vincent M; Service de génétique Médicale, CHU Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.; Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Alders M; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.

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

Alves CAPF; From the Division of Neuroradiology (C.A.P.F.A.) alvesc@chop.edu.; Sherbini O; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; D'Arco F; Departments of Radiology (F.D.).; Steel D; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.; Kurian MA; Neurology (D.S., M.A.K.), Great Ormond Street Hospital for Children, London, UK.; Molecular Neurosciences (D.S., M.A.K.), Zayed Centre for Research into Rare Diseases in Children, UCL GOS-Institute of Child Health, London, UK.; Radio FC; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Ferrero GB; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.; Carli D; Department of Public Health and Pediatrics (G.B.F., D.C.),University of Torino, Turin, Italy.; Tartaglia M; Genetics and Rare Diseases Research Division (F.C.R., M.T.), Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Balci TB; MedicalGenetics Programof Southwestern Ontario (T.B.B.), London Health Sciences Centre, London, Ontario, Canada.; Department of Paediatrics (T.B.B.),Western University, London, Ontario, Canada.; Powell-Hamilton NN; Division of Medical Genetics (N.N.P.-H.), Nemours Childrenșs Hospital, Wilmington, Delaware.; Schrier Vergano SA; Division of Medical Genetics and Metabolism (S.A.S.V.), Childrenșs Hospital of The Kingșs Daughters, Norfolk, Virginia.; Department of Pediatrics (S.A.S.V.), Eastern Virginia Medical School, Norfolk, Virginia.; Reutter H; Division of Neonatology and Pediatric Intensive Care (H.R.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University Nürnberg-Erlangen, Erlangen, Germany.; Hoefele J; Institute of Human Genetics (J.H., R.G.).; Günthner R; Institute of Human Genetics (J.H., R.G.).; Department of Nephrology (R.G.), Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.; Roeder ER; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.; Littlejohn RO; Department of Pediatrics and Molecular and Human Genetics (E.R.R., R.O.L.), Baylor College of Medicine, San Antonio, Texas.; Lessel D; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lüttgen S; Institute of Human Genetics (D.L., S.L.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kentros C; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.; Anyane-Yeboa K; Division of Clinical Genetics (C.K., K.A.-Y.), Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian, New York, New York.; Catarino CB; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; Mercimek-Andrews S; Department of Medical Genetics (S.M.-A.), Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Department of Medical Genetics (S.M.-A.), The Hospital for Sick Children, Toronto, Ontario, Canada.; Denecke J; Department of Pediatrics (J.D.), University Medical Center Eppendorf, Hamburg, Germany.; Lyons MJ; Greenwood Genetic Center (M.J.L.), Greenwood, South Carolina.; Klopstock T; Friedrich-Baur-Institute (C.B.C., T.K.), Department of Neurology, University Hospital, Ludwig-Maximilian University Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (T.K.), Munich, Germany.; Munich Cluster for Systems Neurology (T.K.), Munich, Germany.; Bhoj EJ; Department of Radiology, Division of Human Genetics (E.J.B., L.B.).; Bryant L; Department of Radiology, Division of Human Genetics (E.J.B., L.B.).; Vanderver A; Department of Pediatrics, and Division of Neurology (A.V.), Department of Pediatrics, Childrenșs Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology (O.S., A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada. Bekim.Sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Bekim.Sadikovic@lhsc.on.ca.; Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Aref-Eshghi E; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Schenkel L; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Stuart A; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Henneman P; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Venema A; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Schwartz CE; Greenwood Genetic Center, Greenwood, SC, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA.; DuPont BR; Greenwood Genetic Center, Greenwood, SC, USA.; Fletcher RS; Greenwood Genetic Center, Greenwood, SC, USA.; Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada.; Siu VM; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada.; Granadillo JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Masters J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Kadour M; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA.; van Haelst MM; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Mannens MMAM; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Lee JA; Greenwood Genetic Center, Greenwood, SC, USA.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA. mtedder@ggc.org.; Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. m.alders@amsterdamumc.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE