부산대학교 도서관

Verscaj, Courtney P; Velez-Bartolomei, Frances; Bodle, Ethan; Chan, Katie; Lyons, Michael J; Thorson, Willa; Tan, Wen-Hann; Rodig, Nancy; Graham, John M; Peron, Angela; Quintero-Rivera, Fabiola; Zackai, Elaine H; Thomas, Mary Ann; Stevens, Cathy A; Adam, Margaret P; Bird, Lynne M; Jones, Marilyn C; Matalon, Dena R

Prenatal Diagnosis. 44:237-246

Borroto MC; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.; Michaud C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.; Hudon C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.; Agrawal PB; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Applegate CD; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Bjornsson HT; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland.; Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.; Chen MJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Curry C; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA.; Devinsky O; Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA.; Dudding-Byth T; Hunter Genetics, Newcastle, NSW 2298, Australia.; Fagan K; UCSF Benioff Children's Hospital, San Francisco, CA 93940, USA.; Finnila CR; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.; Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA.; Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.; Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Wojcik MH; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.; Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Kruszka P; GeneDx LLC, Gaithersburg, MD 20877, USA.; Li H; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA.; Litwin J; Department of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA.; Marcadier J; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.; Blackburn PR; Department of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA.; Reijnders MRF; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Reutter H; Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany.; Schanze I; Institute of Human Genetics, 39120 Magdeburg, Germany.; Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA.; Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.; van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands.; Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA.; Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.

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

Ghaleb, Yousra El; Schneeberger, Pauline E; Fernández-Quintero, Monica L; Geisler, Stefanie M; Pelizzari, Simone; Polstra, Abeltje M; Hagen, Johanna M van; Denecke, Jonas; Campiglio, Marta; Liedl, Klaus R; Stevens, Cathy A; Person, Richard E; Rentas, Stefan; Marsh, Eric D; Conlin, Laura K; Tuluc, Petronel; Kutsche, Kerstin; Flucher, Bernhard E; El Ghaleb, Yousra; van Hagen, Johanna M

Brain: A Journal of Neurology. Jul2021, Vol. 144 Issue 7, p2092-2106. 15p.

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata JM; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A

American Journal of Human Genetics, vol 108, iss 1

Lacombe D; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France didier.lacombe@chu-bordeaux.fr.; Bloch-Zupan A; Faculté de Chirurgie Dentaire, Université de Strasbourg, and Centre de référence des maladies rares orales et dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, and Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, Illkirch, France.; Bredrup C; Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway.; Cooper EB; Department of Anesthesiology, Cincinnati Children's Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway and Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.; Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34010 Istanbul, Turkey.; Larizza L; Laboratorio di Ricerca in Citogenetica medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Milano, Italy.; Lopez Gonzalez V; Department of Pediatrics, Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB, CIBERER, Murcia, Spain.; Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Milani D; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Saettini F; Fondazione Matilde Tettamanti Menotti De Marchi Onlus, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.; Tooke L; Department of Pediatrics, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.; Van der Zee JA; Department of Pediatric Urology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist and Department of Ophthalmology, University Medical Center Utrecht, Utrecht, Netherlands.; Van-Gils J; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Waite J; School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.; Adrien JL; Université de Paris, Laboratoire de Psychopathologie et Processus de Santé, Boulogne Billancourt, France.; Bartsch O; MVZ - Humangenetik, University Medical Center, Johannes Gutenberg University Mainz, 55131 Mainz, Germany.; Bitoun P; Département de Genetique, SIDVA 91, Juvisy-sur-Orge, France.; Bouts AHM; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Cueto-González AM; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Dominguez-Garrido E; Molecular Diagnostics Laboratory, Fundacion Rioja Salud, La Rioja, Spain.; Duijkers FA; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Fergelot P; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Halstead E; Psychology and Human Development Department, University College London, London, UK.; Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Zodiak, Prinsenstichting, Purmerend, Netherlands.; Meossi C; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Mullins J; Rubinstein-Taybi Syndrome Support Group, Registered Charity, Rickmansworth, UK.; Nikkel SM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Oliver C; School of Psychology, University of Birmingham, Edgbaston, UK.; Prada E; Fondazione IRCCS, Ca'Granda Ospedale Maggiore, 20122 Milan, Italy.; Rei A; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Riddle I; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.; Rodriguez-Fonseca C; Asociación Española para el Sindrome de Rubinstein-Taybi (AESRT), Madrid, Spain.; Rodríguez Pena R; Immunology, Hospital Universitario La Paz, IdiPaz, Madrid, Spain.; Russell J; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Saba A; French RTS Support Group, Paris, France.; Santos-Simarro F; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.; Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, Cincinnati School of Medicine, Cincinnati, Ohio, USA.; Smith DF; Department of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, and Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Stevens MF; Department of Anesthesiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Szakszon K; Institution of Pediatrics, University of Debrecen Clinical Centre, Debrecen, Hungary.; Taupiac E; Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U1211, University of Bordeaux, 33076 Bordeaux, France.; Totaro N; Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.; Valenzuena Palafoll I; Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Van Der Kaay DCM; Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.; Van Wijk MP; Department of Pediatric Gastroenterology, Emma Children's Hospital, Amsterdam UMC, University Amsterdam, Amsterdam, Netherlands.; Vyshka K; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Robert Debré University Hospital, Paris, France.; Wiley S; Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.; Hennekam RC; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.

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

Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Campbell IM; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Harr MH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Gold N; Mass General Hospital for Children, Division of Medical Genetics and Metabolism and Harvard Medical School, Boston, Massachusetts, USA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Bjornsson HT; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Landspitali University Hospital, Iceland.; Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.; Fatemi A; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Harris JR; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Nowak C; Division of Genetics and Genomics, Boston Children's Hospital, The Feingold Center for Children, Boston, Massachusetts, USA.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.; Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Au M; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA.; Campo MD; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.; Jones MC; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.; Abdul-Rahman O; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.; Bergstrom K; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.; Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Dugan S; Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.; Kaplan JD; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Derar N; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Gripp KW; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Hauser N; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.; Innes AM; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Keena B; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Kodra N; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.; Miller R; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.; Nelson B; Department of Clinical Skills, St. George's University, True Blue, Grenada.; Nowaczyk MJ; McMaster University, Hamilton, Canada.; Rahbeeni Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ben-Shachar S; Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Shieh JT; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Slavotinek A; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Sobering AK; Department of Biochemistry, St. George's University, True Blue, Grenada.; Abbott MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA.; Allain DC; Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.; Amlie-Wolf L; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Au PYB; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.; Bedoukian E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Beek G; Children's Hospital of Minnesota, Minneapolis, Minnesota, USA.; Barry J; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.; Berg J; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Cytrynbaum C; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Chung BH; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Dorrani N; Department of Pediatrics, University of California Los Angeles, California, Los Angeles, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.; Eaton A; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Flores-Daboub JA; Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.; Dubbs H; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Felix CA; Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Fong CT; Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Fung JLF; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Gangaram B; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Goldstein A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Greenberg R; Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ha TK; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Hersh J; Weisskopf Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA.; Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Kallish S; Division of Translational Medicine and Human Genetics Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Kravets E; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Kwok PY; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Jobling RK; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Knight Johnson AE; Department of Human Genetics, University of Chicago, Chicago, Illinois, USA.; Kushner J; Molecular and Medical  Genetics, Oregon Health and Science University, Portland, Oregon, USA.; Lee BH; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Levin B; MD Anderson Cancer Center at Cooper, Cooper University Health Care, Camden, New Jersey, USA.; Lindstrom K; Phoenix Children's Hospital, Phoenix, Arizona, USA.; Manickam K; Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA.; Mardach R; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.; McCormick E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; McLeod DR; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Mentch FD; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Minks K; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Muraresku C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Nelson SF; UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.; Department of Human Genetics, Center for Duchenne Muscular Dystrophy University of California Los Angeles, California, Los Angeles, USA.; Porazzi P; Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Pichurin PN; Clinical Genomics Center, University of California Los Angeles, Los Angeles, California, USA.; Powell-Hamilton NN; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Powis Z; Quest Diagnostics Kalamzoo, Kalamzoo, Michigan, USA.; Ritter A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rogers C; Molecular and Medical  Genetics, Oregon Health and Science University, Portland, Oregon, USA.; Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA.; Ronspies C; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Schroeder A; Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Starr L; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Suwannarat P; Mid-Atlantic Permanente Medical Group, Rockville, Maryland, USA.; Velinov M; NYS Institute for Basic Research in developmental Disabilities, Staten Island, New York, USA.; Weksberg R; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.; Wilnai Y; Genetic Institute, Sourasky Medical Center, Te-Aviv, Tel Aviv, Israel.; Zadeh N; Genetics Center and CHOC Children's Hospital, Orange, California, USA.; Zand DJ; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA.; Falk MJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Quintero-Rivera F; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Department of Pathology and Laboratory Medicine, University of California Los Angeles, California, Los Angeles, USA.

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

Pelletier F; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Division of Child Neurology, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montreal, QC, Canada.; Perrier S; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Cayami FK; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Center of Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.; Mirchi A; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.; Saikali S; Department of Pathology, Centre Hospitalier Universitaire de Québec, Québec City, QC, Canada.; Tran LT; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Ulrick N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Guerrero K; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Rampakakis E; Department of Pediatrics, McGill University, Montreal, QC, Canada.; van Spaendonk RML; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA.; Pohl D; Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Gibson WT; Department of Medical Genetics, University of British Columbia, BC Children's Hospital Research Institute, Vancouver, BC, Canada.; Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, BC, Canada.; Goizet C; Centre de Référence Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital, and Laboratoire MRGM, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Tejera-Martin I; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.; Potic A; Department of Neurology, Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade, Belgrade, Serbia.; Fogel BL; Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Brais B; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Montreal Neurological Institute, Montreal, QC, Canada.; Sylvain M; Centre Mère Enfant, CHU de Québec, Québec City, QC, Canada.; Sébire G; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Pediatrics, Université de Sherbrooke, Sherbrooke, QC, Canada.; Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, SP, Brazil.; Bonkowsky JL; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Catsman-Berrevoets C; Department of Paediatric Neurology, Erasmus University Hospital - Sophia Children's Hospital, 3015 CN Rotterdam, The Netherlands.; Pinto PS; Neuroradiology Department, Centro Hospitalar do Porto, Porto, Portugal.; Tirupathi S; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK.; Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo University Hospital, Ullevål, 0450 Oslo, and University of Oslo, Oslo, Norway.; de Grauw T; Department of Pediatrics, Emory School of Medicine, Atlanta, GA, USA.; Gieruszczak-Bialek D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland.; Krägeloh-Mann I; Department of Child Neurology, University Children's Hospital Tübingen, Tübingen, Germany.; Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland.; Philippi H; Center of Developmental Neurology (SPZ Frankfurt Mitte), Frankfurt, Germany.; Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Atik T; Division of Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey.; Banwell B; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Benko WS; Division of Pediatric Neurology, Department of Neurology, UC Davis Health System, Sacramento, CA, USA.; Blaschek A; Department of Pediatric Neurology and Developmental Medicine, Dr. v. Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.; Bley A; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Boltshauser E; Department of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; Brozova K; Department of Child Neurology, Thomayers Hospital, Prague, Czech Republic.; Cimas I; Department of Neurology, Povisa Hospital, Vigo, Spain.; Clough C; Department of Neurology, King's College Hospital, London, UK.; Corenblum B; Division of Endocrinology & Metabolism, Department of Medicine, University of Calgary, Calgary, AB, Canada.; Dinopoulos A; Third Department of Pediatrics, National and Kapodistrian University of Athens, 'Attikon' Hospital, Athens, Greece.; Dolan G; Bristow Pediatrics, Bristow, VA, USA.; Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.; Fernandez R; Pediatric Neurology Associates, Tampa, FL, USA.; Fletcher J; Genetics and Molecular Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia.; Garcia Garcia ME; Department of Neurology, The Royal London Hospital, London, UK.; Gasparini P; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34100 Trieste, and University of Trieste, Trieste, Italy.; Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany.; Gonzalez Moron D; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia, ADC, Buenos Aires, Argentina.; Hamati A; Department of Child Neurology, Indiana University, Indianapolis, IN, USA.; Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.; Hertzberg C; Department of Child Neurology, Vivantes Klinikum, Berlin, Germany.; Hill A; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.; Hobson GM; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.; Kauffman M; Neurogenetics Unit, Department of Neurology, Hospital JM Ramos Mejia and CONICET, ADC, Buenos Aires, Argentina.; Kirwin SM; Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Kluger G; PMU Salzburg, 5020 Salzburg, Austria; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany.; Kolditz P; Department of Child Neurology, Kantonsspital Luzern, Luzern, Switzerland.; Kotzaeridou U; Department of Child Neurology, University Children's Hospital Heidelberg, Heidelberg, Germany.; La Piana R; Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada.; Liston E; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; McClintock W; Pediatric Specialists of Virginia, Fairfax, VA, USA.; Department of Neurology, Children's National Medical Center, Washington, DC, USA.; McEntagart M; South West Thames Regional Genetics Service, St. George's Hospital, London, UK.; McKenzie F; Genetic Services of Western Australia, Subiaco, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Melançon S; Department of Medical Genetics, McGill University Health Centre, Montreal Children's Hospital, Montreal, QC, Canada.; Misbahuddin A; Essex Centre for Neurological Sciences, Queen's Hospital, Romford, UK.; Suri M; Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Monton FI; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.; Moutton S; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.; Murphy RPJ; Department of Neurology, Tallaght University Hospital, Tallaght, Ireland.; Nickel M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Onay H; Department of Medical Genetics, Ege University, Izmir, Turkey.; Orcesi S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.; Özkınay F; Department of Pediatrics, Subdivision of Pediatric Genetics, Faculty of Medicine, Ege University, Izmir, Turkey.; Patzer S; Children's Hospital St. Elisabeth and St. Barbara, Halle (Saale), Germany.; Pedro H; Department of Pediatrics, The Joseph M. Sanzari Children's Hospital, Hackensack University Medical Center, Hackensack, NJ, USA.; Pekic S; Clinic for Endocrinology, Diabetes and Diseases of Metabolism, University Clinical Center, Belgrade & School of Medicine, University of Belgrade, Belgrade, Serbia.; Pineda Marfa M; Hospital Sant Joan de Deu, Passeig de Sant Joan de Deu nº2, Barcelona, Spain.; Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Genetics, MetroHealth Hospital, Cleveland, OH, USA.; Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.; Poll-The BT; Department of Pediatric Neurology, Emma Children's Hospital, 1105 Amsterdam, The Netherlands.; Popovic V; Medical Faculty, University of Belgrade, Belgrade, Serbia.; Rating D; Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany.; Rioux MF; Centre Hospitalier Universitaire de Sherbrooke - Hôpital Fleurimont, Sherbrooke, QC, Canada.; Rodriguez Espinosa N; Department of Neurology, Hospital Universitario Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Canary Islands, Spain.; Ronan A; Hunter New England LHD, University of Newcastle, NSW, Australia.; Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Rossignol E; Departments of Neurosciences and Pediatrics, CHU-Sainte-Justine, Université de Montréal, Montreal, QC, Canada.; Sanchez-Carpintero R; Pediatric Neurology Unit, Department of Pediatrics, Clinica Universidad de Navarra, Pamplona, Spain.; Schossig A; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Senbil N; Department of Child Neurology, Kırıkkale University Medical Faculty, Kırıkkale, Turkey.; Sønderberg Roos LK; Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Stevens CA; Department of Pediatrics, Division of Medical Genetics, University of Tennessee College of Medicine, Chattanooga, TN, USA.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research and Centre of Neurology, German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.; Sztriha L; Department of Paediatrics, University of Szeged, Szeged, Hungary.; Tibussek D; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Timmann D; Department of Neurology, Essen University Hospital, University of Duisburg-Essen, Essen, Germany.; Tonduti D; Child Neurology Unit, V. Buzzi Children's Hospital, Milano, Italy.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.; Vázquez-López M; Sección Neuropediatría. Hospital Maternoinfantil Gregorio Marañón, Madrid, Spain.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Wasling P; Department of Neuroscience and Rehabilitation, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Wassmer E; Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK.; Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery and the Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Wiegand G; Department of Pediatric Neurology, University Hospital Kiel, Germany.; Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany.; Yoon G; Division of Clinical and Metabolic Genetics, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Rotteveel J; Emma Children's Hospital, Amsterdam UMC, Pediatric Endocrinology, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Schiffmann R; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA.; van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Martos-Moreno GÁ; Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; CIBER de Fisiopatologia de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; Polychronakos C; Division of Endocrinology, Montreal Children's Hospital and the Endocrine Genetics Lab, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Pediatrics, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Daoud, Hussein; Tétreault, Martine; Gibson, William; Guerrero, Kether; Cohen, Ana; Gburek-Augustat, Janina; Synofzik, Matthis; Brais, Bernard; Stevens, Cathy A; Sanchez-Carpintero, Rocio; Goizet, Cyril; Naidu, Sakkubai; Vanderver, Adeline; Bernard, Geneviève

Journal of Medical Genetics. Mar 01, 2013 50(3):194-197

Lindsay F; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.; Anderson I; Division of Medical Genetics, Department of Medicine, University of Tennessee College of Medicine, Knoxville, Tennessee.; Wentzensen IM; Gene Dx, Gaithersburg, Maryland.; Suhrbier D; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

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

Bi, Weimin; Probst, Frank J; Wiszniewska, Joanna; Plunkett, Katie; Roney, Erin K; Carter, Brian S; Williams, Misti D; Stankiewicz, Pawel; Patel, Ankita; Stevens, Cathy A; Lupski, James R; Cheung, Sau Wai

Journal of Medical Genetics. Nov 01, 2012 49(11):681-688

Carter LB; Stanford University, Stanford, California.; Battaglia A; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Cherry A; Stanford University, Stanford, California.; Manning MA; Stanford University, Stanford, California.; Ruzhnikov MR; Stanford University, Stanford, California.; Bird LM; University of California San Diego and Rady Children's Hospital San Diego, San Diego, California.; Dowsett L; Kapi'olani Medical Center and University of Hawai'i, Honolulu, Hawaii.; Graham JM Jr; Cedars-Sinai Medical Center, Los Angeles, California.; Alkuraya FS; King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Hashem M; King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Dinulos MB; Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire.; Vallee S; Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire.; Adam MP; University of Washington, Seattle, Washington.; Glass I; University of Washington, Seattle, Washington.; Beck AE; University of Washington, Seattle, Washington.; Stevens CA; University of Tennessee School of Medicine, Knoxville, Tennessee.; Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; McDougall C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Keena B; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Peron A; Child Neuropsychiatry Unit-Epilepsy Center, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah.; Vignoli A; Child Neuropsychiatry Unit-Epilepsy Center, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Seaver LH; Spectrum Health Helen DeVos Children's Hospital.; Michigan State University Department of Pediatrics and Human Development, Grand Rapids, Michigan.; Slavin TP; Division of Clinical Cancer Genomics, City of Hope, Duarte, California.; Hudgins L; Stanford University, Stanford, California.

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

Stevens CA; Department of Pediatrics, Division of Medical Genetics, The University of Tennessee College of Medicine, Chattanooga, Tennessee.; Hogue JS; Department of Pediatrics, Madigan Army Medical Center, Tacoma, Washington.; Hopkin RJ; Department of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio.; Deparment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Lombardo RC; Department of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio.; Deparment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.; Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.

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

Küry S; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.; Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, 17475 Greifswald, Germany.; Mollé A; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France.; Besnard T; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Lee MK; Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France; INSERM U934/CNRS UMR 3215, 75248 Paris, France.; Vignard V; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Hery T; Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France; INSERM U934/CNRS UMR 3215, 75248 Paris, France.; Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands.; Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands.; Cogné B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Mor-Shaked H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel.; Li H; Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA.; Schnur RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Wentzensen IM; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Denommé-Pichon AS; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR CNRS 6214-INSERM 1083, Université d'Angers, 49933 Angers Cedex 9, France.; Fourgeux C; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France.; Verheijen FW; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands.; Faurie E; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.; Smits DJ; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands.; Barr E; Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA.; Sheffer R; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94304, USA.; Stimach CL; Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA.; Kovitch E; PANDA, 5887 Glenridge Drive, Suite 140, Atlanta, GA 30328, USA.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.; Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.; Smith W; PANDA, 5887 Glenridge Drive, Suite 140, Atlanta, GA 30328, USA.; van Jaarsveld RH; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Smith K; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Baugh EH; Genomic Medicine, Columbia University, New York, NY 10032, USA.; Bohm SG; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands.; Vyhnálková E; Department of Biology and Medical Genetics, 2nd School of Medicine, Charles University in Prague and Faculty Hospital Motol, V Úvalu 84, 150 06 Prague 5, Czech Republic.; Ryba L; Department of Biology and Medical Genetics, 2nd School of Medicine, Charles University in Prague and Faculty Hospital Motol, V Úvalu 84, 150 06 Prague 5, Czech Republic.; Delnatte C; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Neira J; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.; Bonneau D; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR CNRS 6214-INSERM 1083, Université d'Angers, 49933 Angers Cedex 9, France.; Toutain A; Service de Génétique, Centre Hospitalier Régional Universitaire, 37044 Tours, France; UMR 1253, iBrain, Université de Tours, INSERM, 37032 Tours, France.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratory, Houston, TX 77021, USA.; Audebert-Bellanger S; CHRU Brest, Génétique Médicale, 29609 Brest, France.; Gilbert-Dussardier B; CHU Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; EA 3808, Université Poitiers, 86034 Poitiers, France.; Odent S; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares,' Centre de Référence Anomalies du Développement CLAD-Ouest, ERN ITHACA, CHU Rennes, 35203 Rennes, France; CNRS UMR 6290 IGDR 'Institut de Génétique et développement de Rennes,' Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France.; Laumonnier F; Service de Génétique, Centre Hospitalier Régional Universitaire, 37044 Tours, France; UMR 1253, iBrain, Université de Tours, INSERM, 37032 Tours, France.; Berger SI; Center for Genetic Medicine Research/Rare Disease Institute, Children's National Medical Center, Washington, DC 20010, USA.; Smith ACM; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, 10/10C103, MSC 1851, Bethesda, MD 20892, USA.; Bourdeaut F; Institut Curie, SIREDO (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Oncology), 75005 Paris, France.; Stern MH; Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma, Equipe Labellisée Par la Ligue Nationale Contre le Cancer, 75248 Paris, France.; Redon R; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, 17475 Greifswald, Germany.; Margueron R; Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France; INSERM U934/CNRS UMR 3215, 75248 Paris, France.; Bézieau S; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.; Poschmann J; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France.; Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr.

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

Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.; Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.; Alkuraya FS; Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Amemiya AR; Computercraft Corporation, McLean, VA 20005, USA.; Bamshad MJ; Department of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.; Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98015, USA.; Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute and Division Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.; Bird LM; Department of Pediatrics, University of California San Diego, San Diego 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA.; Carey JC; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.; Chung B; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China.; Clark RD; Loma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, USA.; Cox TC; Department of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.; Curry C; Genetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA.; Dinulos MBP; The Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.; Dobyns WB; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.; Giampietro PF; University of Illinois College of Medicine, Chicago, IL 60612, USA.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Glass IA; Department of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.; Graham JM Jr; Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.; Gripp KW; Division of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA.; Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, NC 28803, USA.; Hall BD; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.; Kalish JM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Keppler-Noreuil KM; Division of Genetics, Children's National Medical Center, Washington, DC 20010, USA.; Kosaki K; Keio University School of Medicine, Tokyo 160-8582, Japan.; Kozel BA; Translational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Mirzaa GM; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.; Mulvihill JJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA.; Nowaczyk MJM; Molecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada.; Pagon RA; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.; Retterer K; GeneDx, Gaithersburg, MD 20877, USA.; Rope AF; Genome Medical, South San Francisco, CA 94080, USA.; Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA.; Seaver LH; Spectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA.; Shieh JT; Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.; Slavotinek AM; Institute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.; Sobering AK; Augusta University/University of Georgia Athens, Medical Partnership, Athens, GA 30606, USA.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.; Tsai AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.; Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA.; Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.; Zackai E; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA.; Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.; May KM; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

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

Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

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

Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul CM; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata JM; Wassink-Ruiter, Jolien S Klein; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Genomics, University of Washington Center for Mendelian; Bamshad, Michael J; Abecasis, Gonçalo R; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L; Chen, Christina; Chin, Jennifer; Cooper, Gregory M; Davis, Colleen P; Frazar, Christopher; Harrell, Tanya M; He, Zongxiao; Jain, Preti; Jarvik, Gail P; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A; Krumm, Niklas; Leal, Suzanne M; Luksic, Daniel; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Siegel, Deborah L; Staples, Jeffrey C; Tackett, Monica; Underwood, Jason G; Wegener, Marc; Wang, Gao; Wheeler, Marsha M; Yi, Qian

American Journal of Human Genetics, vol 96, iss 3

Ward SK; University of Tennessee College of Medicine Chattanooga, Chattanooga, TN.; Stevens CA; Keates-Baleeiro J; Bhakta M

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505928 Publication Model: Print Cited Medium: Internet ISSN: 1536-3678 (Electronic) Linking ISSN: 10774114 NLM ISO Abbreviation: J Pediatr Hematol Oncol Subsets: MEDLINE

Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Giovannucci Uzielli, Maria Luisa; Haldeman-Englert, Chad; Hennekam, Raoul CM; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata JM; Klein Wassink-Ruiter, Jolien S; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

Schanze D; Institute of Human Genetics, University Hospital Magdeburg, Germany.; Harakalova M; Stevens CA; Brancati F; Dallapiccola B; Farndon P; Ferraz VE; McDonald-McGinn DM; Zackai EH; Wright M; van Lieshout S; Vogel MJ; van Haelst MM; Zenker M

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