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Val Sheffield

Professor,  Pediatrics

Contact Information

Phone: +1 319 335 6898
Email: val-sheffield@uiowa.edu


BS, Zoology, Brigham Young University
MS, Developmental Biology, Brigham Young University
PhD, Developmental Biology, University of Chicago
MD, Medical Degree, University of Chicago
Residency, Pediatrics, University of California, San Francisco
Fellowship, Medical Genetics, University of California, San Francisco


Primary: Pediatrics

Centers and Program Affiliations

Interdisciplinary Graduate Program in Genetics
Interdisciplinary Graduate Program in Informatics

Research Interests

DNA, pediatrics, genetics, cancer or carcinogenesis, congenital heart disease, blindness, human genetic disease, single base change

MeSH Terms from Publications

Research Summary

My interests are in identifying genes which cause human genetic diseases. Specifically hereditary eye diseases including glaucoma, macular dystrophies, and retinis pigmentosa. Also include congenital heart defects and deafness. Involved in the Human Geno.

Recent Publications

Show publications
  1. Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. Vision Res 75:77-87, 2012. [PubMed]
  2. ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc Natl Acad Sci U S A 109(48):19691-6, 2012. [PubMed]
  3. Recommendations for genetic testing of inherited eye diseases: report of the american academy of ophthalmology task force on genetic testing. Ophthalmology 119(11):2408-10, 2012. [PubMed]
  4. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet 21(21):4781-92, 2012. [PubMed]
  5. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. PLoS Genet 8(10):e1003001, 2012. [PubMed]
  6. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem 287(24):20625-35, 2012. [PubMed]
  7. Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism. Psychiatr Genet 22(3):137-40, 2012. [PubMed]
  8. BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet 21(9):1945-53, 2012. [PubMed]
  9. Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma. Invest Ophthalmol Vis Sci 53(3):1557-65, 2012. [PubMed]
  10. TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. Invest Ophthalmol Vis Sci 53(1):100-6, 2012. [PubMed]