mutation

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
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes
Mirta Basha, Bénédicte Demeer, Nicole Revencu, Raphael Helaers, Stephanie Theys, Sami Bou Saba, Odile Boute, Bernard Devauchelle, Geneviève Francois, Bénédicte Bayet, Miikka Vikkula

Journal of Medical Genetics Jul 2018, 55 (7) 449-458; DOI: 10.1136/jmedgenet-2017-105110
Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome
Huixing Chen, Yong Zhu, Zijue Zhu, Erlei Zhi, Keming Lu, Xiaobo Wang, Feng Liu, Zheng Li, Weiliang Xia

Journal of Medical Genetics Mar 2018, 55 (3) 150-157; DOI: 10.1136/jmedgenet-2016-104404
No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells
Julie Steffann, Aurore Pouliet, Houda Adjal, Christine Bole, Cécile Fourrage, Jelena Martinovic, Louise Rolland-Galmiche, Agnes Rotig, Frédéric Tores, Arnold Munnich, Jean-Paul Bonnefont

Journal of Medical Genetics May 2017, 54 (5) 324-329; DOI: 10.1136/jmedgenet-2016-104335

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