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Alecia S. Willis, Ph.D. - Publications

Affiliations: 
2004 Vanderbilt University, Nashville, TN 
Area:
Genetics, Molecular Biology
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14 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 Beroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, De Paillerets BB, Bronner M, Buell CM, Collod-Béroud G, Coulet F, Derive N, Divincenzo C, Elzinga CD, Garrec C, ... ... Willis A, et al. BRCA Share: A Collection of Clinical BRCA Gene Variants. Human Mutation. PMID 27633797 DOI: 10.1002/humu.23113  0.302
2013 Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The New England Journal of Medicine. 369: 1502-11. PMID 24088041 DOI: 10.1056/Nejmoa1306555  0.378
2013 Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. American Journal of Medical Genetics. Part A. 161: 3182-6. PMID 23956205 DOI: 10.1002/ajmg.a.36178  0.332
2012 Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU. POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 499: 209-12. PMID 22405928 DOI: 10.1016/j.gene.2012.02.034  0.319
2011 Mendiratta MS, Yang Y, Balazs AE, Willis AS, Eng CM, Karaviti LP, Potocki L. Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation. International Journal of Pediatric Endocrinology. 2011: 5. PMID 21860632 DOI: 10.1186/1687-9856-2011-5  0.322
2011 Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S, Lichtarge O, Rubio V, Wong LJ, Summar M. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Human Mutation. 32: 579-89. PMID 21120950 DOI: 10.1002/Humu.21406  0.659
2010 Le TM, Willis AS, Barr FE, Cunningham GR, Canter JA, Owens SE, Apple RK, Ayodo G, Reich D, Summar ML. 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. PMID 20655259 DOI: 10.1016/J.Ymgme.2010.05.013  0.579
2010 Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, et al. Type I hyperprolinemia: genotype/phenotype correlations. Human Mutation. 31: 961-5. PMID 20524212 DOI: 10.1002/Humu.21296  0.301
2006 Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML. 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. PMID 16737834 DOI: 10.1016/J.Ymgme.2006.04.006  0.646
2005 Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D. Functional consequences of PRODH missense mutations American Journal of Human Genetics. 76: 409-420. PMID 15662599 DOI: 10.1086/428142  0.359
2004 Williams SM, Ritchie MD, Phillips JA, Dawson E, Prince M, Dzhura E, Willis A, Semenya A, Summar M, White BC, Addy JH, Kpodonu J, Wong LJ, Felder RA, Jose PA, et al. Multilocus analysis of hypertension: a hierarchical approach. Human Heredity. 57: 28-38. PMID 15133310 DOI: 10.1159/000077387  0.603
2004 Summar ML, Hall L, Christman B, Barr F, Smith H, Kallianpur A, Brown N, Yadav M, Willis A, Eeds A, Cermak E, Summar S, Wilson A, Arvin M, Putnam A, et al. Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I. Molecular Genetics and Metabolism. 81: S12-9. PMID 15050969 DOI: 10.1016/J.Ymgme.2003.11.014  0.642
2003 Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, Rubio V, Arvin MK, Schofield JP, Dawson EP. Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene. Gene. 311: 51-7. PMID 12853138 DOI: 10.1016/S0378-1119(03)00528-6  0.641
2003 Willis AS, Freeman ML, Summar SR, Barr FE, Williams SM, Dawson E, Summar ML. Ethnic diversity in a critical gene responsible for glutathione synthesis. Free Radical Biology & Medicine. 34: 72-6. PMID 12498981 DOI: 10.1016/S0891-5849(02)01178-4  0.626
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