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 Original Investigation 05 January 2018 Pages: 111 - 127
Reconstructing the demographic history of the Himalayan and adjoining populations Rakesh TamangGyaneshwer ChaubeyKumarasamy Thangaraj Original Investigation 22 January 2018 Pages: 129 - 139
Identification of rare RTN3 variants in Alzheimer’s disease in Han Chinese Yongyi ZouWanxia HeZhuohua Zhang Original Investigation 22 January 2018 Pages: 141 - 150
Complex signatures of natural selection at GYPA Abigail W. BighamKevin MagnayeMichael Bamshad Original Investigation 23 January 2018 Pages: 151 - 160
Genomic structure of the native inhabitants of Peninsular Malaysia and North Borneo suggests complex human population history in Southeast Asia Chee-Wei YewDongsheng LuBoon-Peng Hoh Original Investigation 30 January 2018 Pages: 161 - 173
Importance of complete phenotyping in prenatal whole exome sequencing Mahmoud AarabiOlivia SniezekAleksandar Rajkovic Original Investigation 01 February 2018 Pages: 175 - 181
Robust identification of mosaic variants in congenital heart disease Kathryn B. ManheimerFelix RichterBruce D. Gelb Original Investigation 07 February 2018 Pages: 183 - 193