1. Genotype imputation performance of three reference panels using African ancestry individuals

   • Candelaria Vergara
   • Margaret M. Parker
   • Priya Duggal

   Original Investigation 10 April 2018 Pages: 281 - 292

   

2. Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy

   • Joshi Stephen
   • Sheela Nampoothiri
   • May Christine V. Malicdan

   Original Investigation 24 April 2018 Pages: 293 - 303

   

3. Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease

   • Ezgi Kucukkilic
   • Keeley Brookes
   • Edward J. Hollox

   Original Investigation Open access 19 April 2018 Pages: 305 - 314

   

4. A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans

   • M. Krall
   • S. Htun
   • A. M. Slavotinek

   Original Investigation 30 April 2018 Pages: 315 - 328

   

5. ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss

   • Wu Li
   • Jie Sun
   • Yong Feng

   Original Investigation 30 April 2018 Pages: 329 - 342

   

6. High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation

   • Todd Lencz
   • Jin Yu
   • Itsik Pe’er

   Original Investigation 28 April 2018 Pages: 343 - 355