The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis Hildegard Kehrer-SawatzkiSaid FarschtschiDavid N. Cooper Review Open access 05 December 2016 Pages: 129 - 148
Recorded interviews with human and medical geneticists Peter S. Harper Original Investigation Open access 15 November 2016 Pages: 149 - 164
Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts Rishika DeShefali S. VermaDiane Gilbert-Diamond Original Investigation 15 November 2016 Pages: 165 - 178
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism Nuria C. BramswigH.-J. LüdeckeD. Wieczorek Original Investigation 15 November 2016 Pages: 179 - 192
Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution Lei ShiEnzhi HuBing Su Original Investigation 22 November 2016 Pages: 193 - 204
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract Nisha PatelDeepti AnandFowzan S. Alkuraya Original Investigation 22 November 2016 Pages: 205 - 225
XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a Yi-Xi SunYi-Xin ZhangHe-Feng Huang Original Investigation 28 November 2016 Pages: 227 - 239
Mutations in IL36RN are associated with geographic tongue Jianying LiangPeichen HuangZhirong Yao Original Investigation Open access 29 November 2016 Pages: 241 - 252
Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child Veedamali S. SubramanianAlexandru R. ConstantinescuHamid M. Said Original Investigation 30 November 2016 Pages: 253 - 261
Gene-based analyses reveal novel genetic overlap and allelic heterogeneity across five major psychiatric disorders Huiying ZhaoDale R. Nyholt Original Investigation 29 December 2016 Pages: 263 - 274