Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort Zhongzhong ChenLele KuangHongyan Wang Original Investigation 08 February 2018 Pages: 195 - 202
Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes Chunyu LiuJessica L. FettermanDaniel Levy Original Investigation 08 February 2018 Pages: 203 - 213
Pathway-induced allelic spectra of diseases in the presence of strong genetic effects George KanoungiMichael Nothnagel Original Investigation 08 February 2018 Pages: 215 - 230
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK–neurexin interaction Leslie E. W. LaConteVrushali ChavanKonark Mukherjee Original Investigation 09 February 2018 Pages: 231 - 246
Inferring causal relationships between phenotypes using summary statistics from genome-wide association studies Xiang-He MengHui ShenHong-Wen Deng Original Investigation 19 February 2018 Pages: 247 - 255
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities Magalie S. LeducMarianne McguireWeimin Bi Original Investigation 19 March 2018 Pages: 257 - 264
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes Hao WangLele ZhangJie Qiao Original Investigation 26 March 2018 Pages: 265 - 277
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management Lisbeth TranebjærgNicola StrenzkeMaria Bitner-Glindzicz Correction 12 February 2018 Pages: 279 - 280