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Tytuł :
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Autorzy :
Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Bosanko KA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Thomas MA; Departments of Medical Genetics and Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.
Cusmano-Ozog K; Department of Pathology, Stanford University Medical Center, Stanford, California, USA.
Martinez-Monseny A; Department of Clinical Genetics and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Curry CJ; Genetic Medicine, Department of Pediatrics, University of California, San Francisco/Fresno, Fresno, California, USA.
Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Velsher L; Genetics Division, North York General, Toronto, Ontario, Canada.
Bekheirnia MR; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Seidel V; Clinical Genetics, Department of Pediatrics, HGU Gregorio Marañón, Madrid, Spain.
Dedousis D; Department of Genetics and Genome Sciences, University Hospitals Center for Human Genetics, Cleveland, Ohio, USA.
Mitchell AL; Department of Genetics and Genome Sciences, University Hospitals Center for Human Genetics, Cleveland, Ohio, USA.
DiMarino AM; Division of Pediatric Pulmonology, UH Rainbow Babies and Children's Hospital, Cleveland, Ohio, USA.
Riess A; Institute of Medical Genetics and Applied Genomics, Medical faculty, University of Tuebingen, Tuebingen, Germany.
Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Fish JL; Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts, United States.
Caffrey AR; Health Outcomes, College of Pharmacy, University of Rhode Island, Kingston, Rhode Island, USA.
Fleischer N; FDNA Inc, Boston, Massachusetts, USA.
Pierson TM; Departments of Pediatrics and Neurology, The Board of Governors Regenerative Medicine Institute, Cedars Sinai Medical Center, Los Angeles, California, USA.
Lacro RV; Department of Cardiology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
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Źródło :
Clinical genetics [Clin Genet] 2021 Apr; Vol. 99 (4), pp. 547-557. Date of Electronic Publication: 2021 Jan 13.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Autorzy :
Hildebrandt CC; Genetics Unit, MassGeneral Hospital for Children, Massachusetts, USA.; Boston Children's Hospital Medical Biochemical Fellowship, Boston, Massachusetts, USA.
Patel N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Graham JM Jr; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Department of Pediatrics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, USA.
Bamshad M; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute, Seattle, Washington, USA.
Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute, Seattle, Washington, USA.
White JJ; Brotman Baty Institute, Seattle, Washington, USA.
Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
Grand KL; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Sanchez-Lara PA; Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Department of Pediatrics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California, USA.
Schweitzer D; Division of Pediatric Genetics, Department of Pediatrics, University of California Los Angeles, Los Angeles, California, USA.
Al-Zaidan HI; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al Masseri Z; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Lin AE; Genetics Unit, MassGeneral Hospital for Children, Massachusetts, USA.
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Corporate Authors :
University of Washington Center for Mendelian Genomics
Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Mar 30. Date of Electronic Publication: 2021 Mar 30.
Typ publikacji :
Case Reports
Raport
Tytuł :
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Autorzy :
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; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
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.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Mar 30. Date of Electronic Publication: 2021 Mar 30.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Reflections on a career in dysmorphology, teratology, and clinical genetics.
Autorzy :
Graham JM Jr; Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, Professor Emeritus of Pediatrics, David Geffen School of Medicine at UCLA, California, Los Angeles, USA.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Mar 16. Date of Electronic Publication: 2021 Mar 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Autorzy :
Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
Desai M; GeneDx, Gaithersburg, MD 20877, USA.
Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA.
Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy.
Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy.
Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy.
Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel.
Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA.
de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Kingston HM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Sheehan W; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Towne MC; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Goodloe D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sherbini O; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bluske K; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA.
Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy.
Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France.
Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Priolo M; UOSD Genetica Medica del Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli' di Reggio Calabria, 89124 Reggio Calabria, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Holder JL Jr; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, X/*genetics
DNA-Binding Proteins/*genetics
RNA-Binding Proteins/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/physiopathology ; DNA Methylation/genetics ; Epigenesis, Genetic/genetics ; Female ; Haploinsufficiency/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Young Adult
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł :
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Autorzy :
Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: .
Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.
Alkuraya FS; Department of Genetics, 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; Pediatric Genetic Medicine Service, University of Washington, 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, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.
Giampietro PF; Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901, 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; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.
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.
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Jan 07; Vol. 108 (1), pp. 8-15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genetic Diseases, Inborn/*diagnosis
Genetic Diseases, Inborn/*genetics
Genomics/*methods
Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Genotype ; Humans ; Mutation/genetics ; Phenotype
Czasopismo naukowe
Tytuł :
Update on the gestational effects of maternal hyperthermia.
Autorzy :
Graham JM Jr; Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center and Harbor-UCLA Medical Center, Professor Emeritus of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
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Źródło :
Birth defects research [Birth Defects Res] 2020 Jul 15; Vol. 112 (12), pp. 943-952.
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Autorzy :
Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.
Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.
Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.
Seeley A; Geisinger Medical Center, Danville, PA, USA.
Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.
Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.
Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.
Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.
Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.
Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.
Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.
Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.
Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.
Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.
Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.
Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.
Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.
Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.
Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.
Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.
McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.
Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.
Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .
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Corporate Authors :
Undiagnosed Diseases Network
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 May; Vol. 22 (5), pp. 878-888. Date of Electronic Publication: 2020 Jan 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Intellectual Disability*/genetics
Megalencephaly*
Neurodevelopmental Disorders*/genetics
Child ; Female ; GATA Transcription Factors/genetics ; Humans ; Nucleosomes ; Phenotype ; Pregnancy ; Repressor Proteins
Czasopismo naukowe
Tytuł :
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Autorzy :
Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.
Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.
Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.
Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.
Seeley A; Geisinger Medical Center, Danville, PA, USA.
Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.
Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.
Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.
Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.
Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.
Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.
Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.
Basel D; Department of Pediatrics, Division of Genetics, Children's Hospital of Wisconsin, Milwaukee, WI, USA.
Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.
Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.
Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.
Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.
Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.
Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.
Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.
Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.
Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.
Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.
McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.
Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.
Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.
Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Nelson SF; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.
Martinez JA; Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.
Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK.
Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. .
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Corporate Authors :
Undiagnosed Diseases Network
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Apr; Vol. 22 (4), pp. 822.
Typ publikacji :
Published Erratum
Tytuł :
De novo copy number variants and parental age: Is there an association?
Autorzy :
Wadhawan I; Department of Obstetrics & Gynecology, Sant Parmanand Hospital, New Delhi, India.
Hai Y; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, Torrance, CA, USA; Department of Statistics, University of Auckland, Auckland, New Zealand.
Foyouzi Yousefi N; Fertility Experts in California & Asian Egg Bank, Hanabusa IVF, San Diego, CA, USA.
Guo X; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, Torrance, CA, USA.
Graham JM Jr; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center, Torrance, CA, USA; Department of Pediatrics, Division of Medical Genetics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA, USA.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Apr; Vol. 63 (4), pp. 103829. Date of Electronic Publication: 2019 Dec 25.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Parents*
Adult ; Fathers ; Female ; Humans ; Infant, Newborn ; Male ; Mothers
Czasopismo naukowe
Tytuł :
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Autorzy :
Johnson BV; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Kumar R; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Oishi S; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia.
Alexander S; Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Queensland Centre for Mental Health Research, Wacol, Queensland, Australia.
Kasherman M; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Griffith Institute for Drug Discovery, Griffith University, Brisbane, Australia.
Vega MS; Queensland Brain Institute, The University of Queensland, Brisbane, Australia.
Ivancevic A; University of Adelaide and Robinson Research Institute, Adelaide, Australia; BioFrontiers Institute, University of Colorado Boulder, Boulder, Colorado.
Gardner A; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Domingo D; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Corbett M; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Parnell E; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Yoon S; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Oh T; Department of Medical Genetics, British Columbia Women's Hospital and University of British Columbia, Vancouver, British Columbia, Canada.
Lines M; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom.
Van Allen M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.
Mercier S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France.
Küry S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France.
Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France.
Pasquier L; Service de Génétique Clinique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Centre Hospitalier Universitaire Hôpital Sud, Rennes, France.
Raynaud M; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique, Unité Nixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France.
Afenjar A; Groupe de Recherche Clinique No. 19, ConCer-LD, Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Centres de Référence Maladies Rares des Déficits Intellectuels de Causes Rares, Paris, France.
Billette de Villemeur T; Sorbonne Université, Groupe de Recherche Clinique No. 19, ConCer-LD, Neuropédiatrie, Centres de Référence Maladies Rares Neurogénétique, Institut National de la Santé et de la Recherche Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.
Keren B; Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Désir J; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
Marangoni M; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
VanHasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.
Weiss M; Department of Clinical Genetics, Vrije Universiteit University Medical Center, Amsterdam, The Netherlands.
Zwijnenburg P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Sa J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Reis CF; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
López-Otín C; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain; Centro de Investigación Biomédica en Red de Cáncer, Spain.
Santiago-Fernández O; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain.
Fernández-Jaén A; Unidad de Neurología Infantil, Hospital Universitário Quirón Madrid, Madrid, Spain.
Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Goldstein A; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Madan-Khetarpal S; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
Infante E; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Mcdougall C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
Pena L; Division of Human Genetics, Cincinnati Children's Hospital; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Schoch K; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Pinto E Vairo F; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.
Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Ewing SA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Perry MS; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas.
Koenig MK; Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas.
Keegan CE; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
Schuette JL; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
Asher S; Translational Medicine & Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
Perilla-Young Y; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina.
Smith LD; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina.
Rosenfeld JA; Baylor College of Medicine, Houston, Texas.
Bhoj E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kaplan P; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Li D; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Cutcutache I; Translational Medicine, UCB Pharma, Slough, United Kingdom.
Page M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.
Armstrong M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.
Lin AE; Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts.
Steeves MA; Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts.
Hollander ND; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Reijnders MRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Demirdas S; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Koboldt DC; Nationwide Children's Hospital, Columbus, Ohio.
Bartholomew D; Nationwide Children's Hospital, Columbus, Ohio.
Mosher TM; Nationwide Children's Hospital, Columbus, Ohio.
Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio.
Shieh C; David Geffen School of Medicine, University of California-Los Angeles, California.
Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
Tezcan K; Department of Genetics, Kaiser Permanente, Sacramento, California.
Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Danylchuk NR; Department of Genetic Counseling, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Asamoah A; Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky.
Jackson KE; Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky.
Yachelevich N; Clinical Genetics Services, Department of Pediatrics, New York University School of Medicine, New York, New York.
Au M; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
Pérez-Jurado LA; University of Adelaide and Robinson Research Institute, Adelaide, Australia; Women's and Children's Hospital, Adelaide, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia; Hospital del Mar Research Institute, Network Research Centre for Rare Diseases and Universitat Pompeu Fabra, Barcelona, Spain.
Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Penzes P; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Wood SA; Griffith Institute for Drug Discovery, Griffith University, Brisbane, Australia.
Burne T; Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Queensland Centre for Mental Health Research, Wacol, Queensland, Australia.
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California; Department of Neurology and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Piper M; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Queensland Brain Institute, The University of Queensland, Brisbane, Australia.
Gécz J; University of Adelaide and Robinson Research Institute, Adelaide, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia. Electronic address: .
Jolly LA; University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address: .
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Corporate Authors :
Undiagnosed Diseases Network
Źródło :
Biological psychiatry [Biol Psychiatry] 2020 Jan 15; Vol. 87 (2), pp. 100-112. Date of Electronic Publication: 2019 Jun 29.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities*/genetics
Intellectual Disability*/genetics
Transforming Growth Factor beta*
Animals ; Female ; Haploinsufficiency ; Humans ; Male ; Mice ; Phenotype ; Signal Transduction ; Ubiquitin Thiolesterase/genetics ; Ubiquitin Thiolesterase/metabolism
Czasopismo naukowe
Tytuł :
Approach to overgrowth syndromes in the genome era.
Autorzy :
Burkardt DD; Center for Human Genetics, University Hospitals, Cleveland, Ohio.
Tatton-Brown K; South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK.; St George's University of London, London, UK.; Institute of Cancer Research, Surrey, UK.
Dobyns W; Department of Pediatrics and Neurology, University of Washington School of Medicine, and Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, Washington.
Graham JM Jr; Division of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California.
Pokaż więcej
Źródło :
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2019 Dec; Vol. 181 (4), pp. 483-490. Date of Electronic Publication: 2019 Dec 02.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Growth Disorders/*genetics
Brain/growth & development ; Humans ; Syndrome
Czasopismo naukowe
Tytuł :
The NuRD complex and macrocephaly associated neurodevelopmental disorders.
Autorzy :
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Otero MG; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Grand K; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California.
Choi A; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California.
Young JI; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida.
Mackay JP; School of Life and Environmental Sciences, University of Sydney, Sydney, New South Wales, Australia.
Pokaż więcej
Źródło :
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2019 Dec; Vol. 181 (4), pp. 548-556. Date of Electronic Publication: 2019 Nov 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Megalencephaly/*genetics
Mi-2 Nucleosome Remodeling and Deacetylase Complex/*physiology
Neurodevelopmental Disorders/*genetics
DNA-Binding Proteins/metabolism ; Humans ; Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics ; Mi-2 Nucleosome Remodeling and Deacetylase Complex/metabolism ; Syndrome
Czasopismo naukowe
Tytuł :
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Autorzy :
Nabais Sá MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Jensik PJ; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL, USA.
McGee SR; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL, USA.
Parker MJ; Sheffield Clinical Genetics Service, OPD2 Northern General Hospital, Sheffield, UK.
Lahiri N; Department of Clinical Genetics, St George's University Hospitals NHS Foundation Trust & St George's, University of London, London, UK.
McNeil EP; Dartmouth Geisel School of Medicine, Hanover, NH, USA.
Kroes HY; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Hagerman RJ; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis School of Medicine, Sacramento, Sacramento, CA, USA.; Department of Pediatrics, University of California Davis Medical Center, Sacramento, Sacramento, CA, USA.
Harrison RE; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Montgomery T; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Splitt M; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Palmer EE; Sydney Children's Hospital, Randwick, NSW, Australia.; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, NSW, Australia.
Sachdev RK; Sydney Children's Hospital, Randwick, NSW, Australia.; School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, NSW, Australia.
Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington-Seattle, Seattle, WA, USA.
Scott AA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.
Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Lorenz R; Ludwig-Konrad-Str. 14, Bad Wildungen, Germany.
Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Berg JN; Department of Clinical Genetics, Ninewells Hospital and Medical School, Dundee, Angus, UK.; Clinical Genetics, University of Dundee, Dundee, Angus, UK.
Amiel J; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique, INSERM UMR 1163, Institut Imagine, Paris, France.
Heron D; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France.
Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France.
Cobben JM; Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; North West Thames Genetics NHS, Northwick Park Hospital, London, UK.
Menke LA; Department of Pediatrics, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
Marco EJ; Department of Child Neurology, Cortica Healthcare, San Rafael, CA, USA.
Graham JM Jr; Division of Clinical Genetics and Dysmorphology, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Pierson TM; Department of Pediatrics, Department of Neurology, and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, London, UK.
Maroofian R; Genetics Research Centre, Molecular and Clinical Sciences Institute, St George's, University of London, London, UK.
Manzini MC; GW Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Cauley ES; GW Institute for Neuroscience, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
Colombo R; Faculty of Medicine'Agostino Gemelli'Catholic University of the Sacred Heart, Rome, Italy.; Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
Odent S; Service de Génétique Clinique, CLAD-Ouest CHU Rennes, Univ Rennes, CNRS 6290 Institut de Génétique et Développement de Rennes (IGDR), Rennes, France.
Dubourg C; Univ Rennes, CHU Rennes, CNRS, IGDR, UMR 6290, Rennes, France.
Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Hasbro Children's Hospital, Warren Alpert Medical School of Brown University, Providence, RI, USA.
de Brouwer APM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. .
Vulto-vanSilfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Sep; Vol. 21 (9), pp. 2059-2069. Date of Electronic Publication: 2019 Mar 29.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA-Binding Proteins/*genetics
Developmental Disabilities/*genetics
Intellectual Disability/*genetics
Microcephaly/*genetics
Transcription Factors/*genetics
Adolescent ; Adult ; Alleles ; Autistic Disorder/genetics ; Autistic Disorder/pathology ; Child ; Child, Preschool ; Developmental Disabilities/pathology ; Exome/genetics ; Female ; Genetic Association Studies ; Humans ; Intellectual Disability/pathology ; Language Development Disorders/genetics ; Language Development Disorders/pathology ; Male ; Microcephaly/pathology ; Mutation, Missense/genetics ; Young Adult
Czasopismo naukowe

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