Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomaliesMary R Richards, Lacey Plummer, Yee-Ming Chan, Margaret F Lippincott, Richard Quinton, Philip Kumanov, Stephanie B Seminara
10 August 2016
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGSMelissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Dörk, Kathleen BM ClaesSee the full list of authors
5 September 2016
An interstitial deletion within 9p21.3 and extending beyond CDKN2A predisposes to melanoma, neural system tumours and possible haematological malignanciesMaria J Baker, Alisa M Goldstein, Patricia L Gordon, Kimberly S Harbaugh, Heath B Mackley, Michael J Glantz, Joseph J Drabick
21 January 2016
Phenome-wide association study maps new diseases to the human major histocompatibility complex regionJixia 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
10 June 2016
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
1 June 2016
GATOR1 complex: the common genetic actor in focal epilepsiesSara Baldassari, Laura Licchetta, Paolo Tinuper, Francesca Bisulli, Tommaso Pippucci
19 May 2016
Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile ParkinsonismSumedha Sudhaman, Kameshwar Prasad, Madhuri Behari, Uday B Muthane, Ramesh C Juyal, BK Thelma
10 February 2016
Circular RNAs: a new frontier in the study of human diseasesYonghua Chen, Cheng Li, Chunlu Tan, Xubao Liu
3 March 2016
Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseasesLaura Polivka, Christine Bodemer, Smail Hadj-Rabia
23 September 2015
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effectsChiao Xin Lim, Michael G Ricos, Leanne M Dibbens, Sarah E Heron
6 January 2016