Europeans have a higher proportion of high-frequency deleterious variants than Africans Sankar Subramanian Original Investigation 13 October 2015 Pages: 1 - 7
Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes Winston LeeYajing XieRando Allikmets Original Investigation 02 November 2015 Pages: 9 - 19
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans Hanan E. ShamseldinLaura L. SmithFowzan S. Alkuraya Original Investigation 05 November 2015 Pages: 21 - 30
Pathway-based variant enrichment analysis on the example of dilated cardiomyopathy Christina BackesBenjamin MederAndreas Keller Original Investigation 07 November 2015 Pages: 31 - 40
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts Federica ConteMartin OtiHuiqing Zhou Original Investigation Open access 11 November 2015 Pages: 41 - 59
Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing Atsushi FujitaKatsutoshi AndoNaomichi Matsumoto Original Investigation 12 November 2015 Pages: 61 - 68
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) Anne KosfeldMartin KreuzerRuthild G. Weber Original Investigation 16 November 2015 Pages: 69 - 87
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy Natsuko Arai-IchinoiMitsugu UematsuShigeo Kure Original Investigation 23 November 2015 Pages: 89 - 98
EDARV370A associated facial characteristics in Uyghur population revealing further pleiotropic effects Qianqian PengJinxi LiSijia Wang Original Investigation 24 November 2015 Pages: 99 - 108
Attitudes towards the sharing of genetic information with at-risk relatives: results of a quantitative survey Timothy J. HeatonVictoria Chico Original Investigation Open access 26 November 2015 Pages: 109 - 120
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest Mariangela SantorsolaClaudia CalabreseMarcella Attimonelli Original Investigation Open access 30 November 2015 Pages: 121 - 136
Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium Jieping LeiAnja RudolphJenny Chang-Claude Original Investigation Open access 30 November 2015 Pages: 137 - 154
Mayana Katz, Ketih Okamoto: Stem cells in modeling human genetic diseases Christian Schnell Book Review 13 November 2015 Pages: 155 - 155