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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,
Pal LR, Radivojac P, Rousseau F, Savojardo C, Schymkowitz J, Thusberg J,
Tosatto SCE, Vihinen M, Väliaho J, Repo S, Moult J, Brenner SE, Friedberg I. (2019).
Assessing Computational Predictions of the Phenotypic Effect of
Cystathionine-beta-Synthase Variants.
Human Mutation. 40: 1530-1545.
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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. (2019)
Assessing predictions on fitness effects of missense variants in calmodulin.
Human Mutation. 40: 1463-1473.
-
Monzon AM, Carraro M, Chiricosta L, Reggian 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.
(2019). Performance of computational methods for the evaluation of Pericentriolar Material 1
missense variants in CAGI-5.
Human Mutation. 40: 1474-1485.
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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 S, Moult J, Kann MG. (2019).
Assessing the performance of in-silico methods for predicting the pathogenicity of variants in the gene CHEK2,
among Hispanic females with breast cancer.
Human Mutation. 40: 1612-1622.
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Savojardo C†, Petrosino M†, Babbi G, Bovo S, Corbi-Verge C, Casadio R, Piero 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 S, Chiaraluce R, Consalvi V,
Capriotti E*. (2019).
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge.
Human Mutation. 40: 1392-1399.
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Montanucci L, Capriotti E*, Frank Y, Ben-Tal N, Fariselli P*. (2019).
DDGun: an untrained method for the prediction of protein stability changes upon single and multiple point variations.
BMC Bioinformatics. 20 (Suppl 14): 335.
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McInnes G, Daneshjou R, Katsonis P, Lichtarge O, Srinivasan RG, Rana S, Radivojac P, Mooney SD, Pagel KA, Stamboulian M, Jiang Y, Capriotti E, Wang Y, Bromberg Y, Bovo S, Savojardo C, Martelli PL, Casadio R, Pal LR, Moult J, Brenner S, Altman R. (2019).
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
Human Mutation. 40: 1314-1320.
-
Petrosino M, Pasquo A, Novak L, Toto A, Gianni S, Mantuano E, Veneziano L, Minicozzi V, Pastore A, Puglisi R,
Capriotti E, Chiaraluce R, Consalvi V. (2019).
Characterization of human frataxin missense variants in cancer tissues.
Human Mutation. 40: 1400-1413.
-
Savojardo C, Babbi G, Bovo S, Capriotti E, Martelli PL, Casadio R. (2019).
Are machine learning based methods suited to address complex biological problems? Lessons from CAGI‐5 challenges
Human Mutation. 40: 1455-1462
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Capriotti E†*, Montanucci L†, Profiti G, Rossi I, Giannuzzi D, Aresu L, Fariselli P. (2019).
Fido-SNP: The first webserver for scoring the impact of single nucleotide variants in the dog genome.
Nucleic Acids Research. 47(W1): W136-W141.
-
Capriotti E*, Ozturk K, Carter H*. (2019).
Integrating molecular network with genetic variant interpretation for precision medicine.
WIREs Systems Biology and Medicine.
11: e1443.
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