The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies Peter D. StensonMatthew MortDavid N. Cooper Review Open access 27 March 2017 Pages: 665 - 677
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia Mauro LongoniFrances A. HighPatricia K. Donahoe Original Investigation 16 March 2017 Pages: 679 - 691
Rare SLC1A1 variants in hot water epilepsy Kalpita Rashimi KaranP. SatishchandraAnuranjan Anand Original Investigation 21 March 2017 Pages: 693 - 703
Common genetic etiology between “multiple sclerosis-like” single-gene disorders and familial multiple sclerosis Anthony L. TraboulseeA. Dessa SadovnickCarles Vilariño-Güell Original Investigation 23 March 2017 Pages: 705 - 714
Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA) Zhe WangAni ManichukalAlexis C. Frazier-Wood Original Investigation Open access 28 March 2017 Pages: 715 - 726
A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data Jan GraffelmanDeepti JainBruce Weir Original Investigation Open access 03 April 2017 Pages: 727 - 741
Sequential recruitment of study participants may inflate genetic heritability estimates Damia NoceMartin GögeleCristian Pattaro Original Investigation 03 April 2017 Pages: 743 - 757
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions G. H. RenkemaG. VisserR. J. T. Rodenburg Original Investigation Open access 06 April 2017 Pages: 759 - 769
Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci Lindsay Fernández-RhodesJian GongKari E. North Original Investigation 08 April 2017 Pages: 771 - 800
M.T. Dorak: Genetic association studies: background, conduct, analysis, interpretation Alex Richards Book Review 08 April 2017 Pages: 801 - 802
Erratum to: Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai–Kadai languages Wibhu KutananJatupol KampuansaiMark Stoneking Erratum 21 March 2017 Pages: 803 - 803