1. Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants. Issue 9 (3rd September 2019) Authors: Kasak, Laura; Bakolitsa, Constantina; Hu, Zhiqiang; Yu, Changhua; Rine, Jasper; Dimster‐Denk, Dago F.; Pandey, Gaurav; De Baets, Greet; Bromberg, Yana; Cao, Chen; Capriotti, Emidio; Casadio, Rita; Van Durme, Joost; Giollo, Manuel; Karchin, Rachel; Katsonis, Panagiotis; Leonardi, Emanuela; Lichtar... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016. Issue 9 (13th September 2019) Authors: Clark, Wyatt T.; Kasak, Laura; Bakolitsa, Constantina; Hu, Zhiqiang; Andreoletti, Gaia; Babbi, Giulia; Bromberg, Yana; Casadio, Rita; Dunbrack, Roland; Folkman, Lukas; Ford, Colby T.; Jones, David; Katsonis, Panagiotis; Kundu, Kunal; Lichtarge, Olivier; Martelli, Pier L.; Mooney, Sean D.; Nodzak,... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Issue 9 (3rd September 2019) Authors: Kasak, Laura; Hunter, Jesse M.; Udani, Rupa; Bakolitsa, Constantina; Hu, Zhiqiang; Adhikari, Aashish N.; Babbi, Giulia; Casadio, Rita; Gough, Julian; Guerrero, Rafael F.; Jiang, Yuxiang; Joseph, Thomas; Katsonis, Panagiotis; Kotte, Sujatha; Kundu, Kunal; Lichtarge, Olivier; Martelli, Pier Luigi; ... Editors: Moult, John; Brenner, Steven E. Other Names: Karchin Rachel guestEditor.; Pal Lipika R. specialEditor. Journal: Human mutation Issue: Volume 40:Issue 9(2019) Page Start: 1373 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗