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. Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer. Issue 9 (17th August 2019) Authors: Voskanian, Alin; Katsonis, Panagiotis; Lichtarge, Olivier; Pejaver, Vikas; Radivojac, Predrag; Mooney, Sean D.; Capriotti, Emidio; Bromberg, Yana; Wang, Yanran; Miller, Max; Martelli, Pier Luigi; Savojardo, Castrense; Babbi, Giulia; Casadio, Rita; Cao, Yue; Sun, Yuanfei; Shen, Yang; Garg, Aditi; ... 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: 1612 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment of methods for predicting the effects of PTEN and TPMT protein variants. Issue 9 (3rd July 2019) Authors: Pejaver, Vikas; Babbi, Giulia; Casadio, Rita; Folkman, Lukas; Katsonis, Panagiotis; Kundu, Kunal; Lichtarge, Olivier; Martelli, Pier Luigi; Miller, Maximilian; Moult, John; Pal, Lipika R.; Savojardo, Castrense; Yin, Yizhou; Zhou, Yaoqi; Radivojac, Predrag; Bromberg, Yana 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: 1495 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge. Issue 9 (3rd July 2019) Authors: Carraro, Marco; Monzon, Alexander Miguel; Chiricosta, Luigi; Reggiani, Francesco; Aspromonte, Maria Cristina; Bellini, Mariagrazia; Pagel, Kymberleigh; Jiang, Yuxiang; Radivojac, Predrag; Kundu, Kunal; Pal, Lipika R.; Yin, Yizhou; Limongelli, Ivan; Andreoletti, Gaia; Moult, John; Wilson, Stephen ... 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: 1330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Back Cover, Volume 40, Issue 9. Issue 9 (13th September 2019) Authors: Andreoletti, Gaia; Pal, Lipika R.; Moult, John; Brenner, Steven E. 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: ii Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease. Issue 9 (28th June 2017) Authors: Pal, Lipika R.; Kundu, Kunal; Yin, Yizhou; Moult, John Journal: Human mutation Issue: Volume 38:Issue 9(2017) Page Start: 1225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants. Issue 9 (27th June 2017) Authors: Pal, Lipika R.; Kundu, Kunal; Yin, Yizhou; Moult, John Journal: Human mutation Issue: Volume 38:Issue 9(2017) Page Start: 1169 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge. Issue 9 (27th June 2017) Authors: Kundu, Kunal; Pal, Lipika R.; Yin, Yizhou; Moult, John Journal: Human mutation Issue: Volume 38:Issue 9(2017) Page Start: 1201 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗