Exome sequencing identifies variants in infants with sacral agenesis

Author:

Pitsava Georgia1,Feldkamp Marcia L.2ORCID,Pankratz Nathan3,Lane John3,Kay Denise M.4,Conway Kristin M.5,Hobbs Charlotte6,Shaw Gary M.7ORCID,Reefhuis Jennita8,Jenkins Mary M.8ORCID,Almli Lynn M.8,Moore Cynthia8ORCID,Werler Martha910,Browne Marilyn L.1112,Cunniff Chris13,Olshan Andrew F.14ORCID,Pangilinan Faith15,Brody Lawrence C.15,Sicko Robert J.4,Finnell Richard H.16,Bamshad Michael J.17,McGoldrick Daniel18,Nickerson Deborah A.18,Mullikin James C.19,Romitti Paul A.5ORCID,Mills James L.1,Brody Lawrence C.,Browne Marilyn L.,Feldkamp Marcia L.,Hobbs Charlotte,Jenkins Mary M.,Moore Cynthia,Olshan Andrew F.,Reefhuis Jennita,Romitti Paul A.,Shaw Gary M.,Werler Martha,Almli Lynn M.,Browne Marilyn L.,Conway Kristin M.,Feldkamp Marcia L.,Finnell Richard H.,Hobbs Charlotte,Jenkins Mary M.,Moore Cynthia,Olshan Andrew F.,Reefhuis Jennita,Keegan ,Romitti Paul A.,Shaw Gary M.,Werler Martha,Bamshad Michael J.,Brody Lawrence C.,Kay Denise M.,McGoldrick Daniel,Mullikin James C.,Nickerson Deborah A.,Pangilinan Faith,Sicko Robert J.,Lane John,Pankratz Nathan,Bamshad Michael J.,Brody Lawrence C.,Feldkamp Marcia L.,Kay Denise M.,Lane John,McGoldrick Daniel,Mills James L.,Nickerson Deborah A.,Pankratz Nathan,Pitsava Georgia,Romitti Paul A.,Sicko Robert J.,Pitsava Georgia,Feldkamp Marcia L.,Kay Denise M.,Lane John,Mills James L.,Pankratz Nathan,Pangilinan Faith,Romitti Paul A.,Almli Lynn M.,Bamshad Michael J.,Brody Lawrence C.,Conway Kristin M.,Cunniff Chris,Finnell Richard H.,Hobbs Charlotte,Jenkins Mary M.,McGoldrick Daniel,Mullikin James C.,Nickerson Deborah A.,Olshan Andrew F.,Reefhuis Jennita,Keegan ,Browne Marilyn L.,Canfield ,Shaw Gary M.,Sicko Robert J.,Mills James L.,Romitti Paul A.,

Affiliation:

1. Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda Maryland USA

2. Division of Medical Genetics, Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah USA

3. Department of Laboratory Medicine and Pathology University of Minnesota Medical School Minneapolis Minnesota USA

4. Division of Genetics, Wadsworth Center New York State Department of Health Albany New York USA

5. Department of Epidemiology, College of Public Health The University of Iowa Iowa City Iowa USA

6. Rady Children's Institute for Genomic Medicine California USA

7. Department of Pediatrics Stanford University School of Medicine Stanford California USA

8. National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta Georgia USA

9. Slone Epidemiology Center at Boston University Boston Massachusetts USA

10. Department of Epidemiology, School of Public Health Boston University Boston Massachusetts USA

11. New York State Department of Health Birth Defects Registry Albany New York USA

12. Department of Epidemiology and Biostatistics University at Albany School of Public Health Rensselaer New York USA

13. Department of Pediatrics Weill Cornell Medical College New York New York USA

14. Department of Epidemiology Gillings School of Global Public Health Chapel Hill North Carolina USA

15. Gene and Environment Interaction Section National Human Genome Research Institute Bethesda Maryland USA

16. Center for Precision Environmental Health Baylor College of Medicine Houston Texas USA

17. Department of Pediatrics University of Washington Seattle Washington USA

18. Department of Genome Sciences University of Washington Seattle Washington USA

19. National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

California Department of Public Health

National Institutes of Health

Centers for Disease Control and Prevention

University of Minnesota

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology and Child Health

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