Editor's choice

Complex I deficiency: clinical features, biochemistry and molecular genetics
Elisa Fassone, Shamima Rahman

Journal of Medical Genetics Sep 2012, 49 (9) 578-590; DOI: 10.1136/jmedgenet-2012-101159
Circular RNAs: a new frontier in the study of human diseases
Yonghua Chen, Cheng Li, Chunlu Tan, Xubao Liu

Journal of Medical Genetics Jun 2016, 53 (6) 359-365; DOI: 10.1136/jmedgenet-2016-103758
GATOR1 complex: the common genetic actor in focal epilepsies
Sara Baldassari, Laura Licchetta, Paolo Tinuper, Francesca Bisulli, Tommaso Pippucci

Journal of Medical Genetics Aug 2016, 53 (8) 503-510; DOI: 10.1136/jmedgenet-2016-103883
Phenome-wide association study maps new diseases to the human major histocompatibility complex region
Jixia Liu, Zhan Ye, John G Mayer, Brian A Hoch, Clayton Green, Loren Rolak, Christopher Cold, Seik-Soon Khor, Xiuwen Zheng, Taku Miyagawa, Katsushi Tokunaga, Murray H Brilliant, Scott J Hebbring

Journal of Medical Genetics Oct 2016, 53 (10) 681-689; DOI: 10.1136/jmedgenet-2016-103867
Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
Delfien J A Bogaert, Melissa Dullaers, Bart N Lambrecht, Karim Y Vermaelen, Elfride De Baere, Filomeen Haerynck

Journal of Medical Genetics Sep 2016, 53 (9) 575-590; DOI: 10.1136/jmedgenet-2015-103690
Clinical application of exome sequencing in undiagnosed genetic conditions
Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein

Journal of Medical Genetics Jun 2012, 49 (6) 353-361; DOI: 10.1136/jmedgenet-2012-100819
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
Rebecca C Fitzgerald, Richard Hardwick, David Huntsman, Fatima Carneiro, Parry Guilford, Vanessa Blair, Daniel C Chung, Jeff Norton, Krishnadath Ragunath, J Han Van Krieken, Sarah Dwerryhouse, Carlos Caldas

Journal of Medical Genetics Jul 2010, 47 (7) 436-444; DOI: 10.1136/jmg.2009.074237
Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime
Lars Anders Forsberg, Devin Absher, Jan Piotr Dumanski

Journal of Medical Genetics Jan 2013, 50 (1) 1-10; DOI: 10.1136/jmedgenet-2012-101322
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
E Berry-Kravis, D Hessl, S Coffey, C Hervey, A Schneider, J Yuhas, J Hutchison, M Snape, M Tranfaglia, D V Nguyen, R Hagerman

Journal of Medical Genetics Apr 2009, 46 (4) 266-271; DOI: 10.1136/jmg.2008.063701
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
C Lintas, A M Persico

Journal of Medical Genetics Jan 2009, 46 (1) 1-8; DOI: 10.1136/jmg.2008.060871

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