Harnessing publicly available genetic data to prioritize lipid modifying therapeutic targets for prevention of coronary heart disease based on dysglycemic risk Vinicius TraganteFolkert W. AsselbergsMichael V. Holmes Original Investigation Open access 05 March 2016 Pages: 453 - 467
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients Sonja HutterRosario M. PiroDavid T. W. Jones Original Investigation 11 March 2016 Pages: 469 - 475
MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients J. M. MoutonL. van der MerweC. Kinnear Original Investigation 11 March 2016 Pages: 477 - 483
Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression Marco CavalliGang PanClaes Wadelius Original Investigation Open access 18 March 2016 Pages: 485 - 497
Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies E. DamiatiG. BorsaniEdoardo Giacopuzzi Original Investigation Open access 22 March 2016 Pages: 499 - 511
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60 Mariem Ben SaidM’hamed GratiXuezhong Liu Original Investigation 29 March 2016 Pages: 513 - 524
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue Anas M. AlazamiSarah M. Al-QattanFowzan S. Alkuraya Original Investigation 29 March 2016 Pages: 525 - 540
Refining the Y chromosome phylogeny with southern African sequences Chiara BarbieriAlexander HübnerBrigitte Pakendorf Original Investigation Open access 04 April 2016 Pages: 541 - 553
Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy María EncisoJonás SarasaDagan Wells Original Investigation 11 April 2016 Pages: 555 - 568
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins Przemyslaw SzafranskiTomasz GambinPaweł Stankiewicz Original Investigation 12 April 2016 Pages: 569 - 586
Erratum to: Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia Andreia BrandãoKen Khong EngPedro Soares Erratum 04 April 2016 Pages: 587 - 587