mutation

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
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
Liang Zong, Jing Guan, Megan Ealy, Qiujing Zhang, Dayong Wang, Hongyang Wang, Yali Zhao, Zhirong Shen, Colleen A Campbell, Fengchao Wang, Ju Yang, Wei Sun, Lan Lan, Dalian Ding, Linyi Xie, Yue Qi, Xin Lou, Xusheng Huang, Qiang Shi, Suhua Chang, Wenping Xiong, Zifang Yin, Ning Yu, Hui Zhao, Jun Wang, Jing Wang, Richard J Salvi, Christine Petit, Richard J H Smith, Qiuju Wang

Journal of Medical Genetics Aug 2015, 52 (8) 523-531; DOI: 10.1136/jmedgenet-2014-102961
Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects
Elena Parrini, Davide Mei, Maria Antonietta Pisanti, Serena Catarzi, Daniela Pucatti, Claudia Bianchini, Mario Mascalchi, Enrico Bertini, Amelia Morrone, Maria Luigia Cavaliere, Renzo Guerrini

Journal of Medical Genetics Jun 2015, 52 (6) 405-412; DOI: 10.1136/jmedgenet-2014-102959
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie-Ange Delrue, Valérie Drouin-Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin-Robinet, Julien Thevenon, Martine Doco-Fenzy, David Genevieve, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean-Louis Mandel, Amélie Piton

Journal of Medical Genetics Nov 2014, 51 (11) 724-736; DOI: 10.1136/jmedgenet-2014-102554

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