학술논문
'학술논문'
에서 검색결과 40건 | 목록
1~10
Electronic Resource
Kelly, M; Park, M; Mihalek, I; Rochtus, A; Gramm, M; Perez-Palma, E; Axeen, ET; Hung, CY; Olson, H; Swanson, L; Anselm, I; Briere, LC; High, FA; Sweetser, DA; Kayani, S; Snyder, M; Calvert, S; Scheffer, IE; Yang, E; Waugh, JL; Lal, D; Bodamer, O; Poduri, A; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Baker, E; Balasubramanyam, A; Barseghyan, H; Batzli, GF; Beggs, AH; Behnam, B; Bellen, HJ; Bernstein, JA; Bican, A; Bick, DP; Birch, CL; Bonner, D; Boone, BE; Bostwick, BL; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Chen, S; Clark, GD; Coakley, TR; Cogan, JD; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P; Davids, M; Davidson, JM; Dayal, JG; Dell'Angelica, EC; Dhar, SU; Dipple, KM; Donnell-Fink, LA; Dorrani, N; Dorset, DC; Douine, ED; Draper, DD; Dries, AM; Eckstein, DJ; Emrick, LT; Eng, CM; Enns, G-GM; Eskin, A; Esteves, C; Estwick, T; Fairbrother, L; Fernandez, L; Ferreira, C; Fieg, EL; Fisher, PG; Fogel, BL; Friedman, ND; Gahl, WA; Glanton, E; Godfrey, RA; Goldman, AM; Goldstein, DB; Gould, SE; Gourdine, J-PF; Groden, CA; Gropman, AL; Haendel, M; Hamid, R; Hanchard, NA; High, F; Holm, IA; Horn, J; Howerton, EM; Huang, Y; Jamal, F; Jiang, Y-H; Johnston, JM; Jones, AL; Karaviti, L; Koeller, DM; Kohane, IS; Kohler, JN; Konick, S; Koziura, M; Krasnewich, DM; Krier, JB; Kyle, JE; Lalani, SR; Lau, CC; Lazar, J; LeBlanc, K; Lee, BH; Lee, H; Levy, SE; Lewis, RA; Lincoln, SA; Loo, SK; Loscalzo, J; Maas, RL; Macnamara, EF; MacRae, CA; Maduro, VV; Majch-erska, MM; Malicdan, MC; Mamounas, LA; Manolio, TA; Markello, TC; Marom, R; Martin, MG; Martinez-Agosto, JA; Mar-waha, S; May, T; McConkie-Rosell, A; McCormack, CE; McCray, AF; Merker, JD; Metz, TO; Might, M; Moretti, PM; Morimoto, M; Mulvihill, JJ; Murdock, DR; Murphy, JL; Muzny, DM; Nehrebecky, ME; Nelson, SF; Newberry, JS; Newman, JH; Nicholas, SK; Novacic, D; Orange, JS; Orengo, JP; Pallais, JC; Palmer, CGS; Papp, JC; Parker, NH; Pena, LDM; Phillips, JA; Posey, JE; Postlethwait, JH; Potocki, L; Pusey, BN; Reuter, CM; Rives, L; Robertson, AK; Rodan, LH; Rosenfeld, JA; Sampson, JB; Samson, SL; Schoch, K; Scott, DA; Shakachite, L; Sharma, P; Shashi, V; Signer, R; Silverman, EK; Sinsheimer, JS; Smith, KS; Spillmann, RC; Stoler, JM; Stong, N; Sullivan, JA; Tan, QK-G; Tifft, CJ; Toro, C; Tran, AA; Urv, TK; Vilain, E; Vogel, TP; Waggott, DM; Wahl, CE; Walker, M; Walley, NM; Walsh, CA; Wan, J; Wangler, MF; Ward, PA; Waters, KM; Webb-Robertson, B-JM; Westerfield, M; Wheeler, MT; Wise, AL; Wolfe, LA; Worthey, EA; Yamamoto, S; Yang, Y; Yoon, AJ; Yu, G; Zastrow, DB; Zhao, C; Zheng, A
Electronic Resource
Conference
Kruszka, P; Hu, T; Martinez-Agosto, JA; Signer, R; Jurgens, J; Engle, EC; Hartley, T; Boycott, KM; Fannemel, M; Beck, N; Ghali, N; Anderlid, BM; Lundin, J; Ghedia, S; Bartley, CM; Spillmann, RC; Wigby, K; Giltay, JC; van Gassen, KLI; Brigatti, KW; Mazzola, S; Zackai, EH; Hong, SK; Hamosh, A; Jones, MC; Weiss, K; Muenke, M
AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 179(4):706-707
Academic Journal
Jones RC; Donaldson GC; Chavannes NH; Kida K; Dickson-Spillmann M; Harding S; Wedzicha JA; Price D; Hyland ME; Jones, Rupert C; Donaldson, Gavin C; Chavannes, Niels H; Kida, Kozui; Dickson-Spillmann, Maria; Harding, Samantha; Wedzicha, Jadwiga A; Price, David; Hyland, Michael E
American Journal of Respiratory & Critical Care Medicine; Dec2009, Vol. 180 Issue 12, p1189-1195, 7p
Academic Journal
Jones RC; Dickson-Spillmann M; Mather MJ; Marks D; Shackell BS; Jones, Rupert C M; Dickson-Spillmann, Maria; Mather, Martin J C; Marks, Dawn; Shackell, Bryanie S
Academic Journal
Banks E; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Francis V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Kharfallah F; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Fonov V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Lévesque M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Han C; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Kulasekaran G; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Tuznik M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Bayati A; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Al-Khater R; Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Argyriou L; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Bahlo M; Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, Australia.; Bakhshoodeh B; Mashhad University of Medical Sciences, Mashhad, Iran.; Barr E; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Bartik L; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA.; Bassiony M; Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Budetta M; Paediatric and Child Neurology Unit, Cava de' Tirreni AOU S. Giovanni di Dio e Ruggiero d'Aragona Hospital, Salerno, Italy.; Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Calame DG; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Cushing D; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada.; Efthymiou S; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK.; Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt.; El Said HG; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt.; Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.; Gill HK; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada.; Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Gogoll L; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Goh ES; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hauser S; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany.; Hoffman TL; Department of Regional Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.; Hogue JS; Madigan Army Medical Center, Tacoma, WA, USA.; Hosokawa A; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Houlden H; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Huynh S; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Kaulfuß S; Institute of Human Genetics, University Medical Center, Göttingen, Germany.; Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.; Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Lee H; 3billion Inc, Seoul, South Korea.; Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Marco EJ; Cortica Healthcare, San Rafael, CA, USA.; McWalter K; GeneDx, Gaithersburg, MD, USA.; Minassian A; Centre for Applied Genomics, Genetics, and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada.; Minassian BA; Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, TX, USA.; Murphy D; Department of Clinical and Movement Neurosciences, University College London (UCL) Queen Square Institute of Neurology, London, UK.; Neira-Fresneda J; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA.; Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Oehl-Jaschkowitz B; BIOSCIENTIA-MVZ-Labor-Saar-Practice of Human Genetics, Homburg (Saar), Germany.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Person R; GeneDx, Gaithersburg, MD, USA.; Pehlivan D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.; Saunders C; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Center for Pediatric Genomic Medicine Children's Mercy, Kansas City, MO, USA.; Schoels L; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Tos T; Department of Medical Genetics, University of Health Sciences, Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Ankara, Turkey.; Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo, Egypt.; Zhou D; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA.; Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Trempe JF; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montréal, QC, Canada.; Durcan TM; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Gan-Or Z; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada.; Avoli M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Alves C; Division of Neuroradiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Maroofian R; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK.; Rudko DA; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; McConnell Brain Imaging Centre, the Neuro, Montréal, QC, Canada.; Department of Biomedical Engineering, McGill University, Montréal, QC, Canada.; McPherson PS; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada. peter.mcpherson@mcgill.ca.
Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Academic Journal
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
Academic Journal
Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.; Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.; Schoch K; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.; Walley N; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.; Alkelai A; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York, USA.; Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Predictive Sciences, Bristol Myers Squibb, Summit, New Jersey, USA.; Shea PR; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Genomics and Bioinformatics Analysis Resource, Columbia University, New York, New York, USA.; Petrovski S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, USA.; Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.; Jobanputra V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.; McConkie-Rosell A; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, North Carolina, USA.
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
Academic Journal
McConkie-Rosell A; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA.; Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA.; Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA.; Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA.; Walley N; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA.; McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA.; Hooper SR; Department of Allied Health Sciences, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine and Duke Health System, Durham, North Carolina, USA.
Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE
Academic Journal
Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guo T; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Wang C; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Garrett L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Kurolap A; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Henig NZ; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Boys Town National Research Hospital, Boys Town, NE, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Becker L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Rathkolb B; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians University Munich, Munich, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany.; Gerlini R; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Seisenberger C; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Marschall S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX, USA.; Gerard A; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Heidlebaugh A; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Challman T; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.; Spillmann RC; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.; Lalani S; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Liu L; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.; Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Guzman E; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Baugh E; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Boddaert N; Paediatric Radiology Department, AP-HP, Hôpital Necker Enfants Malades, Université Paris Cité, Institut Imagine INSERM U1163, 75015 Paris, France.; Rondeau S; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Ormieres C; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Barcia G; Service de Médecine Génomique des Maladies Rares - APHP, Hôpital Necker Enfants Malades, Université de Paris, Paris, France.; Tan QKG; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, USA; University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.; Sheikh K; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA.; Biliciler S; Department of Neurology, UT Health Science Center at Houston, McGovern Medical School, Houston, TX, USA.; Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Melani F; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Shashi V; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Yaron Y; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Steele M; Lifetime Neurodevelopmental Care, San Francisco, CA, USA.; Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Østergaard E; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Nazaryan-Petersen L; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Millan F; GeneDx, Gaithersburg, MD, USA.; Santiago-Sim T; GeneDx, Gaithersburg, MD, USA.; Thevenon J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement, Centre Hospitalier Universitaire Dijon, Equipe Genetics of Developmental Anomalies-INSERM UMR 1231, Dijon, France.; Bruel AL; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon, France; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France.; Thauvin-Robinet C; INSERM UMR1231 GAD 'Génétique des Anomalies du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Popp D; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gawlinski P; Institute of Mother and Child, Kasprzaka 17a, 02-211 Warsaw, Poland.; Wiszniewski W; Oregon Health & Sciences University, 3181 SW Sam Jackson Park Road L103, Portland, OR, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence, Florence, Italy.; Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Hrabě de Angelis M; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Alte Akademie 8, 85354 Freising, Germany.; Hölter SM; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Technische Universität München, Freising-Weihenstephan, Germany.; Cheung HH; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China.; Gu S; School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Key Laboratory for Regenerative Medicine, Ministry of Education, School of Biomedical Sciences, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong SAR, China; Kunming Institute of Zoology Chinese Academy of Sciences, the Chinese University of Hong Kong Joint Laboratory of Bioresources and Molecular Research of Common Diseases, Hong Kong SAR, China. Electronic address: shengu@cuhk.edu.hk.; Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu.
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
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