부산대학교 도서관

Jeanne, M; Demory, H; Moutal, A; Vuillaume, ML; Blesson, S; Thepault, RA; Marouillat, S; Halewa, J; Maas, SM; Motazacker, MM; Mancini, GMS; Van Slegtenhorst, MA; Andreou, A; Cox, H; Vogt, J; Laufman, J; Kostandyan, N; Babikyan, D; Hancarova, M; Bendova, S; Sedlacek, Z; Aldinger, KA; Sherr, EH; Argilli, E; England, EM; Audebert-Bellanger, S; Bonneau, D; Colin, E; Denomme-Pichon, AS; Gilbert-Dussardier, B; Isidor, B; Kury, S; Odent, S; Redon, R; Khanna, R; Dobyns, WB; Bezieau, S; Honnorat, J; Lohkamp, B; Toutain, A; Laumonnier, F

American journal of human genetics. 108(5):951-961

Garshasbi, M; Motazacker, MM; Kahrizi, K; Behjati, F; Abedini, SS; Nieh, SE; Firouzabadi, SG; Becker, C; Ruschendorf, F; Nurnberg, P; Tzschach, A; Vazifehmand, R; Erdogan, F; Ullmann, R; Lenzner, S; Kuss, AW; Ropers, HH; Najmabadi, H

HUMAN GENETICS; FEB 2006, 118 6, p708-p715, 8p.

Vergeer M; Korporaal SJ; Franssen R; Meurs I; Out R; Hovingh GK; Hoekstra M; Sierts JA; Dallinga-Thie GM; Motazacker MM; Holleboom AG; Van Berkel TJ; Kastelein JJ; Van Eck M; Kuivenhoven JA

New England Journal of Medicine (N ENGL J MED), 1/13/2011; 364(2): 136-145. (10p)

Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Rastin C; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; 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.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Demain L; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Dominguez-Garrido E; Rioja Health Foundation, La Rioja, Spain.; Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Houge SD; Haukeland University Hospital, Centre for Medical Genetics and Molecular Medicine, Bergen, Norway.; DuPont BR; Greenwood Genetic Center, Greenwood, SC.; Fee T; Greenwood Genetic Center, Greenwood, SC.; Fletcher RS; Greenwood Genetic Center, Greenwood, SC.; Gokhale D; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Haukanes BI; Haukeland University Hospital, Centre for Medical Genetics and Molecular Medicine, Bergen, Norway.; Henneman P; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Hilton BA; Greenwood Genetic Center, Greenwood, SC.; Jenkinson S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Lee JA; Greenwood Genetic Center, Greenwood, SC.; Louie RJ; Greenwood Genetic Center, Greenwood, SC.; Motazacker MM; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC.; Plomp A; Department of Clinical Genetics, AMC, Amsterdam, The Netherlands.; van der Laan L; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; van der Smagt J; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Walden KK; Greenwood Genetic Center, Greenwood, SC.; Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.; Mannens M; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Skinner SA; Greenwood Genetic Center, Greenwood, SC.; Friez MJ; Greenwood Genetic Center, Greenwood, SC.; Campbell C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Tedder ML; Greenwood Genetic Center, Greenwood, SC.; Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; 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: 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

Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark.; Liu Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Sonnenberg L; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.; Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Eltokhi A; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Rannap M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Koch NA; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.; Lauxmann S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.; Krüger J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Canafoglia L; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy.; Franceschetti S; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy.; Mayer T; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany.; Rebstock J; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany.; Zacher P; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany.; Ruf S; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany.; Alber M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany.; Sterbova K; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic.; Lassuthová P; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic.; Vlckova M; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic.; Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Heine C; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Wieczorek D; Institute of Human Genetics, University Clinic, Heinrich-Heine-University, 40210 Düsseldorf, Germany.; Kroell-Seger J; Children's Department, Swiss Epilepsy Centre, Clinic Lengg, 8001 Zurich, Switzerland.; Lund C; National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital, 0001 Oslo, Norway.; Klein KM; Departments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada.; Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, AB T6G 2T4, Canada.; Rho JM; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada.; Ho AW; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada.; Masnada S; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; Veggiotti P; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; 'L. Sacco' Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy.; Giordano L; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy.; Accorsi P; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy.; Hoei-Hansen CE; Department of Pediatrics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16121 Genova, Italy.; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy.; Zara F; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy.; Verhelst H; Department of Pediatrics, Division of Pediatric Neurology, Gent University Hospital, 9042 Gent, Belgium.; Verhoeven JS; Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, 5591 Heeze, The Netherlands.; Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, 6525 Nijmegen, The Netherlands.; van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands.; Harder AVE; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands.; Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands.; Pendziwiat M; Department of Neuropediatrics, Universitätsklinikum Schleswig Holstein Campus Kiel, 24106 Kiel, Germany.; Lebon S; Pediatric Neurology and Neurorehabilitation Unit, Woman Mother Child Department, Lausanne University Hospital (CHUV), 1000 Lausanne, Switzerland.; University of Lausanne, 1000 Lausanne, Switzerland.; Vaccarezza M; Department of Pediatric Neurology, Hospital Italiano de Buenos Aires, C1428 Buenos Aires, Argentina.; Le NM; Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH 44102, USA.; Christensen J; Department of Neurology, Aarhus University Hospital, 8000 Aarhus, Denmark.; Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark.; Scherer SW; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON 66777, Canada.; The Centre for Applied Genomics and Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON 66777, Canada.; Howe J; Department of Neuropediatrics, University Hospital Bonn, 53229 Bonn, Germany.; Fazeli W; Institute for Molecular and Behavioral Neuroscience, University of Cologne, 50667 Cologne, Germany.; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Howell KB; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia.; Leventer R; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia.; Stutterd C; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia.; Walsh S; Department of Neuropediatrics, Children's Hospital, University Hospital Carl Gustav Carus, Technical University, 1099 Dresden, Germany.; Gerard M; Genetics Department, CHU Côte de Nacre, 14118 Caen, France.; Gerard B; Genetics Department, CHRU Strasbourg, 67000 Strasbourg, France.; Matricardi S; Child Neurology and Psychiatry Unit, Children's Hospital G. Salesi, 60121 Ancona, Italy.; Bonardi CM; Department of Woman's and Child's Health, Padova University Hospital, 35100 Padova, Italy.; Sartori S; Child Neurology and Clinical Neurophysiology Unit, Padova University Hospital, 35100 Padova, Italy.; Berger A; Department of Neuropediatrics, Klinikum Weiden, Kliniken Nordoberpfalz AG, 92637 Weiden, Germany.; Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, 00-034 Warsaw, Poland.; Mastrangelo M; Pediatric Neurology Unit, Vittore Buzzi Hospital, ASST Fatebenefratelli Sacco, 20100 Milan, Italy.; Darra F; Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, 37121 Verona, Italy.; Vøllo A; Department of Pediatrics, Oestfold Hospital, 1712 Graalum, Norway.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands.; Lakeman P; Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands.; Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Betzler C; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, 83569 Vogtareuth, Germany.; Research Institute 'Rehabilitation, Transition, Palliation', PMU Salzburg, 5020 Salzburg, Austria.; Altuzarra C; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France.; Caume R; Clinique de Génétique Guy Fontaine, CHU Lille, 59000, Lille, France.; Roubertie A; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France.; Gélisse P; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France.; Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50131 Florence, Italy.; Guerrini R; IRCCS Stella Maris, 56121 Pisa, Italy.; Bilan F; Service de Génétique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France.; Tibussek D; Child Neurology, Center for Pediatric and Teenage Health Care, 53757 Sankt Augustin, Germany.; Koch-Hogrebe M; Vestische Kinder- und Jugendklinik, 45711 Datteln, Germany.; Perry MS; Justin Neurosciences Center, Cook Children's Medical Center, Fort Worth, TX 76101, USA.; Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA 92637, USA.; Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Sharkov A; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Genomed Ltd., 100000 Moscow, Russia.; Mishina I; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Abramov M; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Kanivets I; Svt. Luka's Institute of Child Neurology & Epilepsy, 100000 Moscow, Russia.; Russian Medical Academy of Continuous Professional Education, 100000 Moscow, Russia.; Korostelev S; Svt. Luka's Institute of Child Neurology & Epilepsy, 100000 Moscow, Russia.; I.M. Sechenov First Moscow State Medical University, 100000 Moscow, Russia.; Kutsev S; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Wain KE; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA.; Eisenhauer N; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA.; Wagner M; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA.; Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA.; Müller-Schlüter K; Epilepsy Center for Children, University Hospital Neuruppin, Brandenburg Medical School, 16816 Neuruppin, Germany.; Bassan H; Pediatric Neurology & Development Center, Shamir Medical Center (Assaf Harofe), Be'er Ya'akov, Israel.; Sackler Faculty of Medicine, Tel Aviv University, 5296001 Tel Aviv, Israel.; Borovikov A; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1000 Brussels, Belgium.; Destrée A; Institute for Pathology and Genetics, 6040 Gosselies, Belgium.; Schoonjans AS; Department of Pediatrics and Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium.; Meuwissen M; Pediatric Neurology, Marie Curie Hospital-CHU Charleroi, 6032 Charleroi, Belgium.; Buzatu M; Pediatric Neurology, Marie Curie Hospital-CHU Charleroi, 6032 Charleroi, Belgium.; Jansen A; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, 1050 Brussels, Belgium.; Scalais E; Pediatric Neurology Unit, Department of Pediatrics, Centre Hospitalier de Luxembourg, 1313 Luxembourg, Luxembourg.; Srivastava S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Tan WH; Department of Genetics, Boston Children's Hospital, Boston, MA 02108, USA.; Olson HE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02108, USA.; Loddenkemper T; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Poduri A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02108, USA.; Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104USA.; Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany.; Department of Neuropediatrics, Kiel University, 24105 Kiel, Germany.; Fitzgerald MP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104USA.; Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany.; Goldberg EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Roser T; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian-University of Munich, 80331 Munich, Germany.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian-University of Munich, 80331 Munich, Germany.; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, 80331 Munich, Germany.; Brünger T; Luxembourg Centre for Systems Biomedicine (LCSB), University Luxembourg, L-4243 Esch-sur-Alzette, Luxembourg.; May P; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44102, USA.; Lal D; Luxembourg Centre for Systems Biomedicine (LCSB), University Luxembourg, L-4243 Esch-sur-Alzette, Luxembourg.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44102, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T ., Cambridge, MA 02138, USA.; Cologne Center for Genomics (CCG), University of Cologne, 50667 Cologne, Germany.; Lederer D; Institute for Pathology and Genetics, 6040 Gosselies, Belgium.; Rubboli G; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; University of Copenhagen, 2200 Copenhagen, Denmark.; Heyne HO; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, 320 Helsinki, Finland.; Program for Medical and Population Genetics/Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02108, USA.; Lesca G; Department of Medical Genetics, Groupement Hospitalier Est and ERN EpiCARE, University Hospitals of Lyon (HCL), 69001 Lyon, France.; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, 69001 Lyon, France.; Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Benda J; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany.; Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark.; Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark.

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

Hengeveld PJ; Department of Immunology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Department of Internal Medicine, Albert Schweitzer Hospital, Dordrecht, the Netherlands.; Ertem YE; Department of Immunology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Dubois JMN; Department of Hematology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Mellink CHM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; van der Kevie-Kersemaekers AM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Evers LM; Department of Hematology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Heezen K; Department of Immunology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Kolijn PM; Department of Immunology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Mook ORF; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Motazacker MM; Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Nasserinejad K; HOVON Data Center, Dept. of Hematology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.; Kersting S; Department of Hematology, Haga Hospital, The Hague, The Netherlands.; Westerweel PE; Department of Internal Medicine, Albert Schweitzer Hospital, Dordrecht, the Netherlands.; Niemann CU; Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.; Kater AP; Department of Hematology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Langerak AW; Department of Immunology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands.; Levin MD; Department of Internal Medicine, Albert Schweitzer Hospital, Dordrecht, the Netherlands. m-d.levin@asz.nl.

Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5551 (Electronic) Linking ISSN: 08876924 NLM ISO Abbreviation: Leukemia Subsets: MEDLINE

Wyrwoll MJ; Institute of Reproductive Genetics, University of Münster, Münster, Germany.; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany.; van Walree ES; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, The Netherlands.; Hamer G; Reproductive Biology Laboratory, Center for Reproductive Medicine, Research Institute Amsterdam Reproduction and Development, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Rotte N; Institute of Reproductive Genetics, University of Münster, Münster, Germany.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Meijers-Heijboer H; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Alders M; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Meißner A; Department of Obstetrics and Gynecology, Center for Reproductive Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Kaminsky E; Praxis für Humangenetik, Hamburg, Germany.; Wöste M; Institute of Medical Informatics, University of Münster, Münster, Germany.; Krallmann C; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany.; Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany.; Hunt TJ; Department of Molecular, Cell and Developmental Biology, Los Angeles, CA, USA.; Clark AT; Department of Molecular, Cell and Developmental Biology, Los Angeles, CA, USA.; Silber S; Infertility Center of St Louis, St Luke's Hospital, St Louis, MO, USA.; Stallmeyer B; Institute of Reproductive Genetics, University of Münster, Münster, Germany.; Friedrich C; Institute of Reproductive Genetics, University of Münster, Münster, Germany.; van Pelt AMM; Reproductive Biology Laboratory, Center for Reproductive Medicine, Research Institute Amsterdam Reproduction and Development, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Mathijssen IB; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany.

Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.; Beck DB; National Human Genome Research Institute, Bethesda, MD, 20892, USA.; Metcalfe K; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Sithambaram S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Cottrell T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan.; Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.; Mignot C; Assistance Publique-Hopitaux de Paris, Sorbonne Université, Departement de Génétique, Groupe Hospitalier Pitie-Salpetriere et Hopital Trousseau, Paris, 75651, France.; Nougues MC; Department of Neuropediatrics, Armand Trousseau Hospital, Assistance Publique-Hopitaux de Paris, Paris, 75012, France.; Keren B; Laboratoire de génétique, Hôpital Pïtié-Salpêtrière, Assistance Publique-Hopitaux de Paris, Paris, 75013, France.; Moore HW; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Giltay JC; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Bos J; Section Clinical Genetics, Department Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; van Haelst M; Section Clinical Genetics, Department Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Motazacker MM; Department of Human Genetics, Laboratory of Genome Diagnostics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, Netherlands.; Boon EMJ; Department of Human Genetics, VU University Medical Center Amsterdam, Amsterdam UMC, van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Luperchio TR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Boukas L; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Department of Biostatistics, Johns Hopkins University, Baltimore, MD, 21205, USA.; Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.; Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.; Schaefer GB; University of Arkansas for Medical Sciences, Springdale, AR, 72762, USA.; Bonasio R; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; Doheny KF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada. Bekim.Sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A5W9, Canada. Bekim.Sadikovic@lhsc.on.ca.; Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. jfahrne1@jhmi.edu.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. jfahrne1@jhmi.edu.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.; Beck DB; National Human Genome Research Institute, Bethesda, MD, 20892, USA.; Metcalfe K; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Sithambaram S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Cottrell T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan.; Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada.; Mignot C; Assistance Publique-Hopitaux de Paris, Sorbonne Université, Departement de Génétique, Groupe Hospitalier Pitie-Salpetriere et Hopital Trousseau, Paris, 75651, France.; Nougues MC; Department of Neuropediatrics, Armand Trousseau Hospital, Assistance Publique-Hopitaux de Paris, Paris, 75012, France.; Keren B; Laboratoire de génétique, Hôpital Pïtié-Salpêtrière, Assistance Publique-Hopitaux de Paris, Paris, 75013, France.; Moore HW; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Giltay JC; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Bos J; Section Clinical Genetics, Department Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; van Haelst M; Section Clinical Genetics, Department Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Motazacker MM; Department of Human Genetics, Laboratory of Genome Diagnostics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, Netherlands.; Boon EMJ; Department of Human Genetics, VU University Medical Center Amsterdam, Amsterdam UMC, van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Luperchio TR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Boukas L; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Department of Biostatistics, Johns Hopkins University, Baltimore, MD, 21205, USA.; Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.; Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.; Schaefer GB; University of Arkansas for Medical Sciences, Springdale, AR, 72762, USA.; Bonasio R; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; Doheny KF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada. Bekim.Sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A5W9, Canada. Bekim.Sadikovic@lhsc.on.ca.; Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. jfahrne1@jhmi.edu.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. jfahrne1@jhmi.edu.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE