Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

Author:

Li Jingjing1,Yang Wei2,Wang Yuejun Jessie1,Ma Chen2,Curry Cynthia J.3,McGoldrick Daniel4,Nickerson Deborah A.45,Chong Jessica X.56,Blue Elizabeth E.57,Mullikin James C.8,Reefhuis Jennita9,Nembhard Wendy N.10,Romitti Paul A.11,Werler Martha M.12,Browne Marilyn L.1314,Olshan Andrew F.15,Finnell Richard H.161718,Feldkamp Marcia L.19,Pangilinan Faith8,Almli Lynn M.9,Bamshad Mike J.456,Brody Lawrence C.8,Jenkins Mary M.9,Shaw Gary M.2ORCID, , ,

Affiliation:

1. 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

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

3. Genetic Medicine, Department of Pediatrics University of California San Francisco California USA

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

5. Brotman Baty Institute for Precision Medicine Seattle Washington USA

6. Division of Genetic Medicine, Department of Pediatrics University of Washington Seattle Washington USA

7. Division of Medical Genetics, Department of Medicine University of Washington Seattle Washington USA

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

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

10. Department of Epidemiology Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences Little Rock Arkansas USA

11. Department of Epidemiology University of Iowa College of Public Health Iowa City Iowa USA

12. Department of Epidemiology Boston University School of Public Health Boston Massachusetts USA

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

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

15. Department of Epidemiology Gillings School of Global Public Health, University of North Carolina at Chapel Hill Chapel Hill North Carolina USA

16. Department of Molecular and Cellular Biology, Center for Precision Environmental Health Baylor College of Medicine Houston Texas USA

17. Department of Molecular and Human Genetics, Center for Precision Environmental Health Baylor College of Medicine Houston Texas USA

18. Department of Medicine, Center for Precision Environmental Health Baylor College of Medicine Houston Texas USA

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

Funder

Centers for Disease Control and Prevention

California Department of Public Health

National Institutes of Health

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

University of Washington

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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