Editor's choice

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, Jane B Lane, Kathleen J Motil, Steven A Skinner, Daniel Charles Tarquinio, Daniel G Glaze, Gerald McGwin, Walter E Kaufmann, Alan K Percy, Jeffrey L Neul, Michelle L Olsen

Journal of Medical Genetics Mar 2014, 51 (3) 152-158; DOI: 10.1136/jmedgenet-2013-102113
Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease
Albert K Luo, Brian K Jefferson, Mario J Garcia, Geoffrey S Ginsburg, Eric J Topol

Journal of Medical Genetics Mar 2007, 44 (3) 161-165; DOI: 10.1136/jmg.2006.045732
Pseudogene in cancer: real functions and promising signature
Lu Xiao-Jie, Gao Ai-Mei, Ji Li-Juan, Xu Jiang

Journal of Medical Genetics Jan 2015, 52 (1) 17-24; DOI: 10.1136/jmedgenet-2014-102785
Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation
Hanan E Shamseldin, Mohamed Elfaki, Fowzan S Alkuraya

Journal of Medical Genetics Mar 2012, 49 (3) 184-186; DOI: 10.1136/jmedgenet-2011-100585
The genetic aetiology of Silver–Russell syndrome
S Abu-Amero, D Monk, J Frost, M Preece, P Stanier, G E Moore

Journal of Medical Genetics Apr 2008, 45 (4) 193-199; DOI: 10.1136/jmg.2007.053017
From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease
Chee-Seng Ku, Eng King Tan, David N Cooper

Journal of Medical Genetics Apr 2013, 50 (4) 203-211; DOI: 10.1136/jmedgenet-2013-101519
Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB
Takeshi Tanaka, Natsuki Motoi, Yoshiko Tsuchihashi, Ryushi Tazawa, Chinatsu Kaneko, Takahito Nei, Toshiyuki Yamamoto, Tomayoshi Hayashi, Tsutomu Tagawa, Takeshi Nagayasu, Futoshi Kuribayashi, Koya Ariyoshi, Koh Nakata, Konosuke Morimoto

Journal of Medical Genetics Mar 2011, 48 (3) 205-209; DOI: 10.1136/jmg.2010.082586
An SNX10 mutation causes malignant osteopetrosis of infancy
Memet Aker, Alex Rouvinski, Saar Hashavia, Asaf Ta-Shma, Avraham Shaag, Shamir Zenvirt, Shoshana Israel, Michael Weintraub, Albert Taraboulos, Zvi Bar-Shavit, Orly Elpeleg

Journal of Medical Genetics Apr 2012, 49 (4) 221-226; DOI: 10.1136/jmedgenet-2011-100520
X-linked retinoschisis: an update
Stephen K Sikkink, Susmito Biswas, Neil R A Parry, Paulo E Stanga, Dorothy Trump

Journal of Medical Genetics Apr 2007, 44 (4) 225-232; DOI: 10.1136/jmg.2006.047340
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia
Özgecan Ayhan, Mahmut Balkan, Ayse Guven, Renin Hazan, Murat Atar, Atalay Tok, Aslıhan Tolun

Journal of Medical Genetics Apr 2014, 51 (4) 239-244; DOI: 10.1136/jmedgenet-2013-102102

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