1. The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

   • Lisbeth Tranebjærg
   • Nicola Strenzke
   • Maria Bitner-Glindzicz

   Original Investigation 05 January 2018 Pages: 111 - 127

   

2. Reconstructing the demographic history of the Himalayan and adjoining populations

   • Rakesh Tamang
   • Gyaneshwer Chaubey
   • Kumarasamy Thangaraj

   Original Investigation 22 January 2018 Pages: 129 - 139

   

3. Identification of rare RTN3 variants in Alzheimer’s disease in Han Chinese

   • Yongyi Zou
   • Wanxia He
   • Zhuohua Zhang

   Original Investigation 22 January 2018 Pages: 141 - 150

   

4. Complex signatures of natural selection at GYPA

   • Abigail W. Bigham
   • Kevin Magnaye
   • Michael Bamshad

   Original Investigation 23 January 2018 Pages: 151 - 160

   

5. Genomic structure of the native inhabitants of Peninsular Malaysia and North Borneo suggests complex human population history in Southeast Asia

   • Chee-Wei Yew
   • Dongsheng Lu
   • Boon-Peng Hoh

   Original Investigation 30 January 2018 Pages: 161 - 173

   

6. Importance of complete phenotyping in prenatal whole exome sequencing

   • Mahmoud Aarabi
   • Olivia Sniezek
   • Aleksandar Rajkovic

   Original Investigation 01 February 2018 Pages: 175 - 181

7. Robust identification of mosaic variants in congenital heart disease

   • Kathryn B. Manheimer
   • Felix Richter
   • Bruce D. Gelb

   Original Investigation 07 February 2018 Pages: 183 - 193