Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex allelesVito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela ScorzaSee the full list of authors
13 October 2016
Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrumAi-Ling Ji, Xia Zhang, Wei-Wei Chen, Wen-Juan Huang
13 January 2017
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
