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2016 4
2017 5
2018 2
2019 8
2020 1
2021 1
2022 1
2024 0

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22 results

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Page 1
Decoding the effects of synonymous variants.
Zeng Z, Aptekmann AA, Bromberg Y. Zeng Z, et al. Nucleic Acids Res. 2021 Dec 16;49(22):12673-12691. doi: 10.1093/nar/gkab1159. Nucleic Acids Res. 2021. PMID: 34850938 Free PMC article.
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Clark WT, Kasak L, Bakolitsa C, Hu Z, Andreoletti G, Babbi G, Bromberg Y, Casadio R, Dunbrack R, Folkman L, Ford CT, Jones D, Katsonis P, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Nodzak C, Pal LR, Radivojac P, Savojardo C, Shi X, Zhou Y, Uppal A, Xu Q, Yin Y, Pejaver V, Wang M, Wei L, Moult J, Yu GK, Brenner SE, LeBowitz JH. Clark WT, et al. Hum Mutat. 2019 Sep;40(9):1519-1529. doi: 10.1002/humu.23875. Hum Mutat. 2019. PMID: 31342580 Free PMC article.
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L, Bakolitsa C, Hu Z, Yu C, Rine J, Dimster-Denk DF, Pandey G, De Baets G, Bromberg Y, Cao C, Capriotti E, Casadio R, Van Durme J, Giollo M, Karchin R, Katsonis P, Leonardi E, Lichtarge O, Martelli PL, Masica D, Mooney SD, Olatubosun A, Radivojac P, Rousseau F, Pal LR, Savojardo C, Schymkowitz J, Thusberg J, Tosatto SCE, Vihinen M, Väliaho J, Repo S, Moult J, Brenner SE, Friedberg I. Kasak L, et al. Hum Mutat. 2019 Sep;40(9):1530-1545. doi: 10.1002/humu.23868. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31301157 Free PMC article.
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5.
Monzon AM, Carraro M, Chiricosta L, Reggiani F, Han J, Ozturk K, Wang Y, Miller M, Bromberg Y, Capriotti E, Savojardo C, Babbi G, Martelli PL, Casadio R, Katsonis P, Lichtarge O, Carter H, Kousi M, Katsanis N, Andreoletti G, Moult J, Brenner SE, Ferrari C, Leonardi E, Tosatto SCE. Monzon AM, et al. Hum Mutat. 2019 Sep;40(9):1474-1485. doi: 10.1002/humu.23856. Epub 2019 Aug 17. Hum Mutat. 2019. PMID: 31260570 Free PMC article.
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.
Voskanian A, Katsonis P, Lichtarge O, Pejaver V, Radivojac P, Mooney SD, Capriotti E, Bromberg Y, Wang Y, Miller M, Martelli PL, Savojardo C, Babbi G, Casadio R, Cao Y, Sun Y, Shen Y, Garg A, Pal D, Yu Y, Huff CD, Tavtigian SV, Young E, Neuhausen SL, Ziv E, Pal LR, Andreoletti G, Brenner SE, Kann MG. Voskanian A, et al. Hum Mutat. 2019 Sep;40(9):1612-1622. doi: 10.1002/humu.23849. Epub 2019 Aug 17. Hum Mutat. 2019. PMID: 31241222 Free PMC article.
Assessment of methods for predicting the effects of PTEN and TPMT protein variants.
Pejaver V, Babbi G, Casadio R, Folkman L, Katsonis P, Kundu K, Lichtarge O, Martelli PL, Miller M, Moult J, Pal LR, Savojardo C, Yin Y, Zhou Y, Radivojac P, Bromberg Y. Pejaver V, et al. Hum Mutat. 2019 Sep;40(9):1495-1506. doi: 10.1002/humu.23838. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31184403 Free PMC article.
22 results