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Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava, Georgia; Feldkamp, Marcia L; Pankratz, Nathan; Lane, John; Kay, Denise M; Conway, Kristin M; Hobbs, Charlotte; Shaw, Gary M; Reefhuis, Jennita; Jenkins, Mary M; Almli, Lynn M; Moore, Cynthia; Werler, Martha; Browne, Marilyn L; Cunniff, Chris; Olshan, Andrew F; Pangilinan, Faith; Brody, Lawrence C; Sicko, Robert J; Finnell, Richard H; Bamshad, Michael J; McGoldrick, Daniel; Nickerson, Deborah A; Mullikin, James C; Romitti, Paul A; Mills, James L.
Afiliación
  • Pitsava G; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
  • Feldkamp ML; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Pankratz N; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
  • Lane J; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
  • Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
  • Conway KM; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA.
  • Hobbs C; Rady Children's Institute for Genomic Medicine, California, USA.
  • Shaw GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
  • Reefhuis J; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
  • Jenkins MM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
  • Almli LM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
  • Moore C; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
  • Werler M; Slone Epidemiology Center at Boston University, Boston, Massachusetts, USA.
  • Browne ML; Department of Epidemiology, School of Public Health, Boston University, Boston, Massachusetts, USA.
  • Cunniff C; New York State Department of Health, Birth Defects Registry, Albany, New York, USA.
  • Olshan AF; Department of Epidemiology and Biostatistics, University at Albany School of Public Health, Rensselaer, New York, USA.
  • Pangilinan F; Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA.
  • Brody LC; Department of Epidemiology, Gillings School of Global Public Health, Chapel Hill, North Carolina, USA.
  • Sicko RJ; Gene and Environment Interaction Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Finnell RH; Gene and Environment Interaction Section, National Human Genome Research Institute, Bethesda, Maryland, USA.
  • Bamshad MJ; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
  • McGoldrick D; Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA.
  • Nickerson DA; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Mullikin JC; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Romitti PA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
  • Mills JL; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Birth Defects Res ; 114(7): 215-227, 2022 04.
Article en En | MEDLINE | ID: mdl-35274497

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Meningocele Tipo de estudio: Prognostic_studies Idioma: En Revista: Birth Defects Res Año: 2022 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Meningocele Tipo de estudio: Prognostic_studies Idioma: En Revista: Birth Defects Res Año: 2022 Tipo del documento: Article