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Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge.
Savojardo C, Petrosino M, Babbi G, Bovo S, Corbi-Verge C, Casadio R, Fariselli P, Folkman L, Garg A, Karimi M, Katsonis P, Kim PM, Lichtarge O, Martelli PL, Pasquo A, Pal D, Shen Y, Strokach AV, Turina P, Zhou Y, Andreoletti G, Brenner SE, Chiaraluce R, Consalvi V, Capriotti E. Savojardo C, et al. Among authors: andreoletti g. Hum Mutat. 2019 Sep;40(9):1392-1399. doi: 10.1002/humu.23843. Epub 2019 Jul 12. Hum Mutat. 2019. PMID: 31209948 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. Among authors: andreoletti g. 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.
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. Among authors: andreoletti g. 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.
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. Among authors: andreoletti g. Hum Mutat. 2019 Sep;40(9):1519-1529. doi: 10.1002/humu.23875. Hum Mutat. 2019. PMID: 31342580 Free PMC article.
Reports from CAGI: The Critical Assessment of Genome Interpretation.
Hoskins RA, Repo S, Barsky D, Andreoletti G, Moult J, Brenner SE. Hoskins RA, et al. Among authors: andreoletti g. Hum Mutat. 2017 Sep;38(9):1039-1041. doi: 10.1002/humu.23290. Hum Mutat. 2017. PMID: 28817245 Free PMC article. No abstract available.
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.
Carraro M, Monzon AM, Chiricosta L, Reggiani F, Aspromonte MC, Bellini M, Pagel K, Jiang Y, Radivojac P, Kundu K, Pal LR, Yin Y, Limongelli I, Andreoletti G, Moult J, Wilson SJ, Katsonis P, Lichtarge O, Chen J, Wang Y, Hu Z, Brenner SE, Ferrari C, Murgia A, Tosatto SCE, Leonardi E. Carraro M, et al. Among authors: andreoletti g. Hum Mutat. 2019 Sep;40(9):1330-1345. doi: 10.1002/humu.23823. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31144778 Free PMC article.
VIPdb, a genetic Variant Impact Predictor Database.
Hu Z, Yu C, Furutsuki M, Andreoletti G, Ly M, Hoskins R, Adhikari AN, Brenner SE. Hu Z, et al. Among authors: andreoletti g. Hum Mutat. 2019 Sep;40(9):1202-1214. doi: 10.1002/humu.23858. Epub 2019 Aug 17. Hum Mutat. 2019. PMID: 31283070 Free PMC article.
49 results