IBBR Publications

Found 7 results
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2019
Kasak L, Bakolitsa C, Hu Z, Yu C, Rine J, Dimster-Denk DF, Pandey G, De Baets G, Bromberg Y, Cao C, et al. Assessing Computational Predictions of the Phenotypic Effect of Cystathionine-beta-Synthase Variants. Hum Mutat. 2019 .
Pejaver V, Babbi G, Casadio R, Folkman L, Katsonis P, Kundu K, Lichtarge O, Martelli PLuigi, Miller M, Moult J, et al. Assessment of methods for predicting the effects of PTEN and TPMT protein variants. Hum Mutat. 2019 .
Carraro M, Monzon AMiguel, Chiricosta L, Reggiani F, Aspromonte MCristina, Bellini M, Pagel K, Jiang Y, Radivojac P, Kundu K, et al. Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge. Hum Mutat. 2019 .
Clark WT, Kasak L, Bakolitsa C, Hu Z, Andreoletti G, Babbi G, Bromberg Y, Casadio R, Dunbrack R, Folkman L, et al. Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016. Hum Mutat. 2019 .
Kasak L, Hunter JM, Udani R, Bakolitsa C, Hu Z, Adhikari AN, Babbi G, Casadio R, Gough J, Guerrero RF, et al. CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Hum Mutat. 2019 .
Monzon AMiguel, Carraro M, Chiricosta L, Reggiani F, Han J, Ozturk K, Wang Y, Miller M, Bromberg Y, Capriotti E, et al. Performance of computational methods for the evaluation of Pericentriolar Material 1 missense variants in CAGI-5. Hum Mutat. 2019 .