Alecia S. Willis, Ph.D.
Affiliations: | 2004 | Vanderbilt University, Nashville, TN |
Area:
Genetics, Molecular BiologyGoogle:
"Alecia Willis"Parents
Sign in to add mentor| Marshall L. Summar | grad student | 2004 | Vanderbilt | |
| (Genetic and environmental interactions in glutathione production.) | ||||
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Publications
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| Beroud C, Letovsky SI, Braastad CD, et al. (2016) BRCA Share: A Collection of Clinical BRCA Gene Variants. Human Mutation |
| Yang Y, Muzny DM, Reid JG, et al. (2013) Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The New England Journal of Medicine. 369: 1502-11 |
| Vatta M, Niu Z, Lupski JR, et al. (2013) Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. American Journal of Medical Genetics. Part A. 161: 3182-6 |
| Bekheirnia MR, Zhang W, Eble T, et al. (2012) POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 499: 209-12 |
| Mendiratta MS, Yang Y, Balazs AE, et al. (2011) Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation. International Journal of Pediatric Endocrinology. 2011: 5 |
| Häberle J, Shchelochkov OA, Wang J, et al. (2011) Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Human Mutation. 32: 579-89 |
| Le TM, Willis AS, Barr FE, et al. (2010) An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro. Molecular Genetics and Metabolism. 101: 55-61 |
| Guilmatre A, Legallic S, Steel G, et al. (2010) Type I hyperprolinemia: genotype/phenotype correlations. Human Mutation. 31: 961-5 |
| Eeds AM, Hall LD, Yadav M, et al. (2006) The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. Molecular Genetics and Metabolism. 89: 80-6 |
| Bender HU, Almashanu S, Steel G, et al. (2005) Functional consequences of PRODH missense mutations American Journal of Human Genetics. 76: 409-420 |