mutation

Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
Ichrak Drissi, Emily Fletcher, Ranad Shaheen, Michael Nahorski, Amal M Alhashem, Steve Lisgo, Alberto Fernández-Jaén, Katherine Schon, Kalthoum Tlili-Graiess, Sarah F Smithson, Susan Lindsay, Hayley J Sharpe, Fowzan S Alkuraya, Geoff Woods

Journal of Medical Genetics Apr 2021, jmedgenet-2020-107237; DOI: 10.1136/jmedgenet-2020-107237
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Marion Aubert Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti, Benjamin Cogné, Diane Doummar, Caroline Karsenty, Sandra Kenis, Eric Leguern, Gaetan Lesca, Caroline Nava, Mathilde Nizon, Amelie Piton, Stéphanie Valence, Laurent Villard, Sarah Weckhuysen, Boris Keren, Cyril Mignot

Journal of Medical Genetics Apr 2021, jmedgenet-2020-107511; DOI: 10.1136/jmedgenet-2020-107511
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
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Lisa Pavinato, Marina Villamor-Payà, Maria Sanchiz-Calvo, Cristina Andreoli, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Andrea Ciolfi, Alessandro Bruselles, Tommaso Pippucci, Valentina Prota, Diana Carli, Elisa Giorgio, Francesca Clementina Radio, Vincenzo Antona, Mario Giuffrè, Kara Ranguin, Cindy Colson, Silvia De Rubeis, Paola Dimartino, Joseph D Buxbaum, Giovanni Battista Ferrero, Marco Tartaglia, Simone Martinelli, Travis H Stracker, Alfredo Brusco

Journal of Medical Genetics Dec 2020, jmedgenet-2020-107281; DOI: 10.1136/jmedgenet-2020-107281
CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes
Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King

Journal of Medical Genetics Oct 2020, jmedgenet-2020-107320; DOI: 10.1136/jmedgenet-2020-107320
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
Huahua Zhong, Yiming Zheng, Zhe Zhao, Pengfei Lin, Jianying Xi, Wenhua Zhu, Jie Lin, Jun Lu, Meng Yu, Wei Zhang, He Lv, Chuanzhu Yan, Jing Hu, Zhaoxia Wang, Jiahong Lu, Chongbo Zhao, Yun Yuan, Sushan Luo

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107159; DOI: 10.1136/jmedgenet-2020-107159
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O’Connell, Henry Houlden

Journal of Medical Genetics Jul 2020, jmedgenet-2020-107048; DOI: 10.1136/jmedgenet-2020-107048
Comprehensive characteristics of somatic mutations in the normal tissues of patients with cancer and existence of somatic mutant clones linked to cancer development
Ji-Hye Oh, Chang Ohk Sung

Journal of Medical Genetics Jul 2020, jmedgenet-2020-106905; DOI: 10.1136/jmedgenet-2020-106905
Genetic T-type calcium channelopathies
Norbert Weiss, Gerald W Zamponi

Journal of Medical Genetics Jan 2020, 57 (1) 1-10; DOI: 10.1136/jmedgenet-2019-106163
Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest
Jian Mu, Wenjing Wang, Biaobang Chen, Ling Wu, Bin Li, Xiaoyan Mao, Zhihua Zhang, Jing Fu, Yanping Kuang, Xiaoxi Sun, Qiaoli Li, Li Jin, Lin He, Qing Sang, Lei Wang

Journal of Medical Genetics Jul 2019, 56 (7) 471-480; DOI: 10.1136/jmedgenet-2018-105936

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