Willis AS - Search Results

1

An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro.

Le TM, Willis AS, Barr FE, Cunningham GR, Canter JA, Owens SE, Apple RK, Ayodo G, Reich D, Summar ML. Le TM, et al. Among authors: willis as. Mol Genet Metab. 2010 Sep;101(1):55-61. doi: 10.1016/j.ymgme.2010.05.013. Epub 2010 Jun 9. Mol Genet Metab. 2010. PMID: 20655259 Free PMC article.

2

Ethnic diversity in a critical gene responsible for glutathione synthesis.

Willis AS, Freeman ML, Summar SR, Barr FE, Williams SM, Dawson E, Summar ML. Willis AS, et al. Free Radic Biol Med. 2003 Jan 1;34(1):72-6. doi: 10.1016/s0891-5849(02)01178-4. Free Radic Biol Med. 2003. PMID: 12498981

3

The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.

Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML. Eeds AM, et al. Mol Genet Metab. 2006 Sep-Oct;89(1-2):80-6. doi: 10.1016/j.ymgme.2006.04.006. Epub 2006 Jun 5. Mol Genet Metab. 2006. PMID: 16737834

4

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I.

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, Wills M, Cunningham G. Summar ML, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S12-9. doi: 10.1016/j.ymgme.2003.11.014. Mol Genet Metab. 2004. PMID: 15050969

5

Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.

Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, Rubio V, Arvin MK, Schofield JP, Dawson EP. Summar ML, et al. Among authors: willis as. Gene. 2003 Jun 5;311:51-7. doi: 10.1016/s0378-1119(03)00528-6. Gene. 2003. PMID: 12853138

6

Multilocus analysis of hypertension: a hierarchical approach.

Williams SM, Ritchie MD, Phillips JA 3rd, Dawson E, Prince M, Dzhura E, Willis A, Semenya A, Summar M, White BC, Addy JH, Kpodonu J, Wong LJ, Felder RA, Jose PA, Moore JH. Williams SM, et al. Hum Hered. 2004;57(1):28-38. doi: 10.1159/000077387. Hum Hered. 2004. PMID: 15133310

7

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S; Urea Cycle Disorders Consortium; Lichtarge O, Rubio V, Wong LJ, Summar M. Häberle J, et al. Hum Mutat. 2011 Jun;32(6):579-89. doi: 10.1002/humu.21406. Epub 2011 May 5. Hum Mutat. 2011. PMID: 21120950 Free PMC article.

8

Perceiving fingerspelling via point-light displays: The stimulus and the perceiver both matter.

Leannah C, Willis AS, Quandt LC. Leannah C, et al. Among authors: willis as. PLoS One. 2022 Aug 16;17(8):e0272838. doi: 10.1371/journal.pone.0272838. eCollection 2022. PLoS One. 2022. PMID: 35972921 Free PMC article.

9

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Posey JE, Burrage LC, Miller MJ, Liu P, Hardison MT, Elsea SH, Sun Q, Yang Y, Willis AS, Schlesinger AE, Bacino CA, Lee BH. Posey JE, et al. Among authors: willis as. Mol Genet Metab Rep. 2014;1:176-183. doi: 10.1016/j.ymgmr.2014.03.004. Mol Genet Metab Rep. 2014. PMID: 25419514 Free PMC article.

10

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.

Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Vatta M, et al. Among authors: willis as. Am J Med Genet A. 2013 Dec;161A(12):3182-6. doi: 10.1002/ajmg.a.36178. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956205 Free PMC article.

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