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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M; Sanchez-Lara, Pedro A; Campo, Miguel Del; Jones, Marilyn C; Abdul-Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary-Alice; Allain, Dawn C; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin.
Affiliation
  • Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Campbell IM; 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; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bjornsson HT; Mass General Hospital for Children, Division of Medical Genetics and Metabolism and Harvard Medical School, Boston, Massachusetts, USA.
  • Cohen JS; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Fatemi A; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Harris JR; Landspitali University Hospital, Iceland.
  • Nowak C; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Stevens CA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Grand K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Au M; Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.
  • Graham JM; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Sanchez-Lara PA; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Campo MD; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Jones MC; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Abdul-Rahman O; Division of Genetics and Genomics, Boston Children's Hospital, The Feingold Center for Children, Boston, Massachusetts, USA.
  • Alkuraya FS; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.
  • Bassetti JA; 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.
  • Bergstrom 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.
  • Bhoj E; 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.
  • Dugan S; 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.
  • Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.
  • Derar N; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA.
  • Gripp KW; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.
  • Hauser N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Innes AM; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.
  • Keena B; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA.
  • Kodra N; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Miller R; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Nelson B; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Nowaczyk MJ; Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.
  • Rahbeeni Z; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.
  • Ben-Shachar S; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Shieh JT; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.
  • Slavotinek A; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.
  • Sobering AK; Department of Medical Genetics, University of Calgary, Calgary, Canada.
  • Abbott MA; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.
  • Allain DC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Amlie-Wolf L; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.
  • Au PYB; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA.
  • Bedoukian E; Department of Clinical Skills, St. George's University, True Blue, Grenada.
  • Beek G; McMaster University, Hamilton, Canada.
  • Barry J; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Berg J; Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Bernstein JA; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
  • Cytrynbaum C; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
  • Chung BH; Department of Biochemistry, St. George's University, True Blue, Grenada.
Am J Med Genet A ; 185(6): 1649-1665, 2021 06.
Article in En | MEDLINE | ID: mdl-33783954
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone-Lysine N-Methyltransferase / Genetic Predisposition to Disease / Myeloid-Lymphoid Leukemia Protein / Growth Disorders / Hypertrichosis / Intellectual Disability Type of study: Observational_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone-Lysine N-Methyltransferase / Genetic Predisposition to Disease / Myeloid-Lymphoid Leukemia Protein / Growth Disorders / Hypertrichosis / Intellectual Disability Type of study: Observational_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: