Editor's choice

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
Recent advances in the molecular pathology, cell biology and genetics of ciliopathies
M Adams, U M Smith, C V Logan, C A Johnson

Journal of Medical Genetics May 2008, 45 (5) 257-267; DOI: 10.1136/jmg.2007.054999
Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta
D Marchington, S Malik, A Banerjee, K Turner, David Samuels, V Macaulay, P Oakeshott, C Fratter, S Kennedy, J Poulton

Journal of Medical Genetics Apr 2010, 47 (4) 257-261; DOI: 10.1136/jmg.2009.072900
Genetics of arrhythmogenic right ventricular cardiomyopathy
Oscar Campuzano, Mireia Alcalde, Catarina Allegue, Anna Iglesias, Pablo García-Pavía, Sara Partemi, Antonio Oliva, Vincenzo L Pascali, Paola Berne, Georgia Sarquella-Brugada, Josep Brugada, Pedro Brugada, Ramon Brugada

Journal of Medical Genetics May 2013, 50 (5) 280-289; DOI: 10.1136/jmedgenet-2013-101523
CRISPR-Cas9: a new and promising player in gene therapy
Lu Xiao-Jie, Xue Hui-Ying, Ke Zun-Ping, Chen Jin-Lian, Ji Li-Juan

Journal of Medical Genetics May 2015, 52 (5) 289-296; DOI: 10.1136/jmedgenet-2014-102968
Genetics of dyslexia: the evolving landscape
Johannes Schumacher, Per Hoffmann, Christine Schmäl, Gerd Schulte-Körne, Markus M Nöthen

Journal of Medical Genetics May 2007, 44 (5) 289-297; DOI: 10.1136/jmg.2006.046516
Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis
Lisenka E L M Vissers, Bert B A de Vries, Joris A Veltman

Journal of Medical Genetics May 2010, 47 (5) 289-297; DOI: 10.1136/jmg.2009.072942
Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases
Laura Polivka, Christine Bodemer, Smail Hadj-Rabia

Journal of Medical Genetics May 2016, 53 (5) 289-295; DOI: 10.1136/jmedgenet-2015-103403
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia
Margaret J Wat, Danielle Veenma, Jacob Hogue, Ashley M Holder, Zhiyin Yu, Jeanette J Wat, Neil Hanchard, Oleg A Shchelochkov, Caraciolo J Fernandes, Anthony Johnson, Kevin P Lally, Anne Slavotinek, Olivier Danhaive, Thomas Schaible, Sau Wai Cheung, Katherine A Rauen, Vijay S Tonk, Dick Tibboel, Annelies de Klein, Daryl A Scott

Journal of Medical Genetics May 2011, 48 (5) 299-307; DOI: 10.1136/jmg.2011.089680

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