IBBR Publications

Found 5 results
Filters: Author is Andreoletti, Gaia  [Clear All Filters]
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 .
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 .
Andreoletti G, Pal LR, Moult J, Brenner SE. Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation. Hum Mutat. 2019 .
2017
Hoskins RA, Repo S, Barsky D, Andreoletti G, Moult J, Brenner SE. Reports from CAGI: The Critical Assessment of Genome Interpretation. Hum Mutat. 2017 ;38(9):1039-1041.