A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family Sandra SzczepanskiMuhammad Sajid HussainPeter Nürnberg Original Investigation 30 November 2015 Pages: 157 - 170
A new method for estimating effect size distribution and heritability from genome-wide association summary results Lei ZhangYue-Ping ShenYu-Fang Pei Original Investigation 10 December 2015 Pages: 171 - 184
Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements Luiza SisdelliAngela Cristina VidiGianna Carvalheira Original Investigation 15 December 2015 Pages: 185 - 192
Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy Corina ShtirMohammed A. AldahmeshFowzan S. Alkuraya Original Investigation 22 December 2015 Pages: 193 - 200
APOH interacts with FTO to predispose to healthy thinness Sandra J. HasstedtHilary CoonSteven C. Hunt Original Investigation 28 December 2015 Pages: 201 - 207
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations Masako YaoitaTetsuya NiihoriYoko Aoki Original Investigation 29 December 2015 Pages: 209 - 222
Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines Zhou ZhangYinan ZhengWei Zhang Original Investigation 30 December 2015 Pages: 223 - 232
Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus Carolina Maciel CamargoDanillo G. AugustoMaria Luiza Petzl-Erler Original Investigation 31 December 2015 Pages: 233 - 244
GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder Hanan E. ShamseldinAlexis H. BennettFowzan S. Alkuraya Original Investigation 07 January 2016 Pages: 245 - 251
Chimeric transcripts resulting from complex duplications in chromosome Xq28 Luciana W. ZuccheratoBenjamin AllevaJames R. Lupski Short Report 14 December 2015 Pages: 253 - 256
Jones EM and Tansey EM (eds): Clinical molecular genetics in the UK c.1975–c.2000. Wellcome witnesses to contemporary medicine, vol 48 Andrew Wilkie Book Review 29 December 2015 Pages: 257 - 258