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Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Cline MS, Babbi G, Bonache S, Cao Y, Casadio R, de la Cruz X, Díez O, Gutiérrez-Enríquez S, Katsonis P, Lai C, Lichtarge O, Martelli PL, Mishne G, Moles-Fernández A, Montalban G, Mooney SD, O'Conner R, Ootes L, Özkan S, Padilla N, Pagel KA, Pejaver V, Radivojac P, Riera C, Savojardo C, Shen Y, Sun Y, Topper S, Parsons MT, Spurdle AB, Goldgar DE; ENIGMA Consortium. Cline MS, et al. Among authors: babbi g. Hum Mutat. 2019 Sep;40(9):1546-1556. doi: 10.1002/humu.23861. Epub 2019 Aug 23. Hum Mutat. 2019. PMID: 31294896 Free PMC article.
Assessing predictions on fitness effects of missense variants in calmodulin.
Zhang J, Kinch LN, Cong Q, Katsonis P, Lichtarge O, Savojardo C, Babbi G, Martelli PL, Capriotti E, Casadio R, Garg A, Pal D, Weile J, Sun S, Verby M, Roth FP, Grishin NV. Zhang J, et al. Among authors: babbi g. Hum Mutat. 2019 Sep;40(9):1463-1473. doi: 10.1002/humu.23857. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31283071 Free PMC article.
Resources and tools for rare disease variant interpretation.
Licata L, Via A, Turina P, Babbi G, Benevenuta S, Carta C, Casadio R, Cicconardi A, Facchiano A, Fariselli P, Giordano D, Isidori F, Marabotti A, Martelli PL, Pascarella S, Pinelli M, Pippucci T, Russo R, Savojardo C, Scafuri B, Valeriani L, Capriotti E. Licata L, et al. Among authors: babbi g. Front Mol Biosci. 2023 May 10;10:1169109. doi: 10.3389/fmolb.2023.1169109. eCollection 2023. Front Mol Biosci. 2023. PMID: 37234922 Free PMC article. Review.
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C, Babbi G, Baldazzi D, Martelli PL, Casadio R. Savojardo C, et al. Among authors: babbi g. Int J Mol Sci. 2021 Dec 23;23(1):167. doi: 10.3390/ijms23010167. Int J Mol Sci. 2021. PMID: 35008593 Free PMC article.
33 results