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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.
Li, Yun Rose; Glessner, Joseph T; Coe, Bradley P; Li, Jin; Mohebnasab, Maede; Chang, Xiao; Connolly, John; Kao, Charlly; Wei, Zhi; Bradfield, Jonathan; Kim, Cecilia; Hou, Cuiping; Khan, Munir; Mentch, Frank; Qiu, Haijun; Bakay, Marina; Cardinale, Christopher; Lemma, Maria; Abrams, Debra; Bridglall-Jhingoor, Andrew; Behr, Meckenzie; Harrison, Shanell; Otieno, George; Thomas, Alexandria; Wang, Fengxiang; Chiavacci, Rosetta; Wu, Lawrence; Hadley, Dexter; Goldmuntz, Elizabeth; Elia, Josephine; Maris, John; Grundmeier, Robert; Devoto, Marcella; Keating, Brendan; March, Michael; Pellagrino, Renata; Grant, Struan F A; Sleiman, Patrick M A; Li, Mingyao; Eichler, Evan E; Hakonarson, Hakon.
Affiliation
  • Li YR; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Glessner JT; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
  • Coe BP; Helen Diller Comprehensive Family Cancer Center and Department of Radiation Oncology, University of California San Francisco, San Francisco, California, 94143, USA.
  • Li J; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Mohebnasab M; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
  • Chang X; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.
  • Connolly J; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Kao C; Affiliated Cancer Hospital and Institute of Guangzhou Medical University, Guangzhou, China.
  • Wei Z; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Bradfield J; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Kim C; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Hou C; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Khan M; Department of Computer Science, New Jersey Institute of Technology, Newark, New Jersey, 07102, USA.
  • Mentch F; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Qiu H; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Bakay M; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Cardinale C; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Lemma M; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Abrams D; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Bridglall-Jhingoor A; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Behr M; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Harrison S; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Otieno G; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Thomas A; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Wang F; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Chiavacci R; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Wu L; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Hadley D; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Goldmuntz E; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Elia J; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Maris J; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Grundmeier R; Helen Diller Comprehensive Family Cancer Center and Department of Radiation Oncology, University of California San Francisco, San Francisco, California, 94143, USA.
  • Devoto M; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
  • Keating B; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • March M; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
  • Pellagrino R; Department of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
  • Grant SFA; Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Sleiman PMA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
  • Li M; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Eichler EE; Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
  • Hakonarson H; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, 19104, USA.
Nat Commun ; 11(1): 255, 2020 01 14.
Article in En | MEDLINE | ID: mdl-31937769
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Full text: 1 Database: MEDLINE Main subject: Genome, Human / Genetic Predisposition to Disease / White People / DNA Copy Number Variations Type of study: Risk_factors_studies Limits: Humans Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Genome, Human / Genetic Predisposition to Disease / White People / DNA Copy Number Variations Type of study: Risk_factors_studies Limits: Humans Language: En Year: 2020 Type: Article