Genotype imputation performance of three reference panels using African ancestry individuals Candelaria VergaraMargaret M. ParkerPriya Duggal Original Investigation 10 April 2018 Pages: 281 - 292
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy Joshi StephenSheela NampoothiriMay Christine V. Malicdan Original Investigation 24 April 2018 Pages: 293 - 303
Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease Ezgi KucukkilicKeeley BrookesEdward J. Hollox Original Investigation Open access 19 April 2018 Pages: 305 - 314
A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans M. KrallS. HtunA. M. Slavotinek Original Investigation 30 April 2018 Pages: 315 - 328
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss Wu LiJie SunYong Feng Original Investigation 30 April 2018 Pages: 329 - 342
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation Todd LenczJin YuItsik Pe’er Original Investigation 28 April 2018 Pages: 343 - 355