1. Harnessing publicly available genetic data to prioritize lipid modifying therapeutic targets for prevention of coronary heart disease based on dysglycemic risk

   • Vinicius Tragante
   • Folkert W. Asselbergs
   • Michael V. Holmes

   Original Investigation Open access 05 March 2016 Pages: 453 - 467

   

2. No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients

   • Sonja Hutter
   • Rosario M. Piro
   • David T. W. Jones

   Original Investigation 11 March 2016 Pages: 469 - 475

   

3. MYBPH acts as modifier of cardiac hypertrophy in hypertrophic cardiomyopathy (HCM) patients

   • J. M. Mouton
   • L. van der Merwe
   • C. Kinnear

   Original Investigation 11 March 2016 Pages: 477 - 483

4. Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression

   • Marco Cavalli
   • Gang Pan
   • Claes Wadelius

   Original Investigation Open access 18 March 2016 Pages: 485 - 497

   

5. Amplicon-based semiconductor sequencing of human exomes: performance evaluation and optimization strategies

   • E. Damiati
   • G. Borsani
   • Edoardo Giacopuzzi

   Original Investigation Open access 22 March 2016 Pages: 499 - 511

   

6. 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 Said
   • M’hamed Grati
   • Xuezhong Liu

   Original Investigation 29 March 2016 Pages: 513 - 524

   

7. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

   • Anas M. Alazami
   • Sarah M. Al-Qattan
   • Fowzan S. Alkuraya

   Original Investigation 29 March 2016 Pages: 525 - 540

   

8. Refining the Y chromosome phylogeny with southern African sequences

   • Chiara Barbieri
   • Alexander Hübner
   • Brigitte Pakendorf

   Original Investigation Open access 04 April 2016 Pages: 541 - 553

   

9. Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy

   • María Enciso
   • Jonás Sarasa
   • Dagan Wells

   Original Investigation 11 April 2016 Pages: 555 - 568

   

10. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    • Przemyslaw Szafranski
    • Tomasz Gambin
    • Paweł Stankiewicz

    Original Investigation 12 April 2016 Pages: 569 - 586

    

11. Erratum to: Quantifying the legacy of the Chinese Neolithic on the maternal genetic heritage of Taiwan and Island Southeast Asia

    • Andreia Brandão
    • Ken Khong Eng
    • Pedro Soares

    Erratum 04 April 2016 Pages: 587 - 587