Exome sequencing identifies variants in infants with sacral agenesis.
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| Title: | Exome sequencing identifies variants in infants with sacral agenesis. |
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| Authors: | 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.; Department of Epidemiology, School of Public Health, Boston University, Boston, Massachusetts, USA., Browne ML; New York State Department of Health, Birth Defects Registry, Albany, New York, USA.; Department of Epidemiology and Biostatistics, University at Albany School of Public Health, Rensselaer, New York, USA., Cunniff C; Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA., Olshan AF; Department of Epidemiology, Gillings School of Global Public Health, Chapel Hill, North Carolina, USA., Pangilinan F; Gene and Environment Interaction Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Brody LC; Gene and Environment Interaction Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Sicko RJ; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Finnell RH; Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, 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., Mullikin JC; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA., Mills JL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA. |
| Corporate Authors: | UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study |
| Source: | Birth defects research [Birth Defects Res] 2022 Apr; Vol. 114 (7), pp. 215-227. Date of Electronic Publication: 2022 Mar 10. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2472-1727 |
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| DOI: | 10.1002/bdr2.1987 |