Genetic Variation

Assessing performance of pathogenicity predictors using clinically relevant variant datasets
Adam C Gunning, Verity Fryer, James Fasham, Andrew H Crosby, Sian Ellard, Emma L Baple, Caroline F Wright

Journal of Medical Genetics Aug 2021, 58 (8) 547-555; DOI: 10.1136/jmedgenet-2020-107003
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
Anushree Acharya, Haluk Kavus, Patrick Dunn, Abdul Nasir, Leandra Folk, Kara Withrow, Ingrid M. Wentzensen, Maura R. Z. Ruzhnikov, Camille Fallot, Thomas Smol, Mélanie Rama, Kathleen Brown, Sandra Whalen, Alban Ziegler, Magali Barth, Anna Chassevent, Constance Smith-Hicks, Alexandra Afenjar, Thomas Courtin, Solveig Heide, Esperanza Font-Montgomery, Caleb Heid, J. Austin Hamm, Donald R. Love, Farouq Thabet, Vinod K. Misra, Mitch Cunningham, Suzanne M. Leal, Irma Jarvela, Elizabeth A. Normand, Fanggeng Zou, Mayada Helal, Boris Keren, Erin Torti, Wendy K. Chung, Isabelle Schrauwen

Journal of Medical Genetics Jul 2021, jmedgenet-2021-107871; DOI: 10.1136/jmedgenet-2021-107871
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population
Li Zhang, Zixin Qin, Teng Huang, Benjamin Tam, Yongsen Ruan, Maoni Guo, Xiaobing Wu, Jiaheng Li, Bojin Zhao, Jia Sheng Chian, Xiaoyu Wang, Lei Wang, San Ming Wang

Journal of Medical Genetics Jun 2021, jmedgenet-2021-107886; DOI: 10.1136/jmedgenet-2021-107886
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations
Alice Garrett, Miranda Durkie, Alison Callaway, George J Burghel, Rachel Robinson, James Drummond, Bethany Torr, Cankut Cubuk, Ian R Berry, Andrew J Wallace, Sian Ellard, Diana M Eccles, Marc Tischkowitz, Helen Hanson, Clare Turnbull

Journal of Medical Genetics May 2021, 58 (5) 297-304; DOI: 10.1136/jmedgenet-2020-107248
Haploinsufficiency in non-homologous end joining factor 1 induces ovarian dysfunction in humans and mice
Guoqing Li, Xi Yang, Lingbo Wang, Yuncheng Pan, Siyuan Chen, Lingyue Shang, Yicheng Zhang, Yucheng Wu, Zixue Zhou, Qing Chen, Xue Zhang, Ling Zhang, Yingchen Wang, Jinsong Li, Li Jin, Yanhua Wu, Xiaojin Zhang, Feng Zhang

Journal of Medical Genetics Apr 2021, jmedgenet-2020-107398; DOI: 10.1136/jmedgenet-2020-107398
Improving the clinical interpretation of missense variants in X linked genes using structural analysis
Shalaw Rassul Sallah, Jamie M Ellingford, Panagiotis I Sergouniotis, Simon C Ramsden, Nicholas Lench, Simon C Lovell, Graeme C Black

Journal of Medical Genetics Mar 2021, jmedgenet-2020-107404; DOI: 10.1136/jmedgenet-2020-107404
Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population
Pei Ji, Jiang Chang, Xiaoyu Wei, Xueyao Song, Hua Yuan, Linnan Gong, Yuancheng Li, Dongsheng Ding, Erbao Zhang, Caiwang Yan, Meng Zhu, Xiaoping Miao, Chen Wu, Guangfu Jin, Zhibin Hu, Hongbing Shen, Hongxia Ma

Journal of Medical Genetics Mar 2021, jmedgenet-2020-107410; DOI: 10.1136/jmedgenet-2020-107410
Ethnic-specific BRCA1/2 variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations
Shanmuga Priya Bhaskaran, Teng Huang, Barani Kumar Rajendran, Maoni Guo, Jiangtao Luo, Zixin Qin, Bojin Zhao, Jiasheng Chian, Suicheng Li, San Ming Wang

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107299; DOI: 10.1136/jmedgenet-2020-107299
SNVerGUI: a desktop tool for variant analysis of next-generation sequencing data
Wei Wang, Weicheng Hu, Fang Hou, Pingzhao Hu, Zhi Wei

Journal of Medical Genetics Dec 2012, 49 (12) 753-755; DOI: 10.1136/jmedgenet-2012-101001

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Genetic Variation