Dr. Val Sheffield practices Genetic Medicine in Iowa City, IA. As a geneticist, Dr. Sheffield performs experiments and analyzes data to interpret the inheritance of different traits in patients. A geneticist evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations, genetic risk calculations, and mutation analysis. Dr. Sheffield carries out studies, tests, and counsels patients with genetic diseases.
Education and Training
Univ of Chicago, Pritzker Sch of Med, Chicago Il 1985
Medical GeneticsAmerican Board of Medical GeneticsABMG
- Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
- Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
- Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.
- A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
- Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
- The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.
- Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.
- Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1).
- Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.
- Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.
- Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21.
- Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci.
- Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
- Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
- Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2.
- University of California, San Francisco (UCSF) Affiliated Hospitals
- Pediatric Genetics, University of California Medical Center, San Francisco, CA Pediatric
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