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Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
Li, Jingjing; Yang, Wei; Wang, Yuejun Jessie; Ma, Chen; Curry, Cynthia J; McGoldrick, Daniel; Nickerson, Deborah A; Chong, Jessica X; Blue, Elizabeth E; Mullikin, James C; Reefhuis, Jennita; Nembhard, Wendy N; Romitti, Paul A; Werler, Martha M; Browne, Marilyn L; Olshan, Andrew F; Finnell, Richard H; Feldkamp, Marcia L; Pangilinan, Faith; Almli, Lynn M; Bamshad, Mike J; Brody, Lawrence C; Jenkins, Mary M; Shaw, Gary M.
Affiliation
  • Li J; Department of Neurology School of Medicine, The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, The Bakar Computational Health Sciences Institute, The Parker Institute for Cancer Immunotherapy, University of California San Francisco, San Francisco, California, USA.
  • Yang W; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
  • Wang YJ; Department of Neurology School of Medicine, The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, The Bakar Computational Health Sciences Institute, The Parker Institute for Cancer Immunotherapy, University of California San Francisco, San Francisco, California, USA.
  • Ma C; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
  • Curry CJ; Genetic Medicine, Department of Pediatrics, University of California, San Francisco, California, USA.
  • McGoldrick D; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Chong JX; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
  • Blue EE; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
  • Mullikin JC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Reefhuis J; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
  • Nembhard WN; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.
  • Romitti PA; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Werler MM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
  • Browne ML; Department of Epidemiology, Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
  • Olshan AF; Department of Epidemiology, University of Iowa College of Public Health, Iowa City, Iowa, USA.
  • Finnell RH; Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts, USA.
  • Feldkamp ML; Birth Defects Registry, New York State Department of Health, Albany, New York, USA.
  • Pangilinan F; Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, New York, USA.
  • Almli LM; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
  • Bamshad MJ; Department of Molecular and Cellular Biology, Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA.
  • Brody LC; Department of Molecular and Human Genetics, Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA.
  • Jenkins MM; Department of Medicine, Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA.
  • Shaw GM; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Am J Med Genet A ; 188(8): 2376-2388, 2022 08.
Article in En | MEDLINE | ID: mdl-35716026
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Anophthalmos / Microphthalmos Type of study: Clinical_trials / Risk_factors_studies Limits: Humans / Infant Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Anophthalmos / Microphthalmos Type of study: Clinical_trials / Risk_factors_studies Limits: Humans / Infant Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States