1. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

   • Hildegard Kehrer-Sawatzki
   • Said Farschtschi
   • David N. Cooper

   Review Open access 05 December 2016 Pages: 129 - 148

   

2. Recorded interviews with human and medical geneticists

   • Peter S. Harper

   Original Investigation Open access 15 November 2016 Pages: 149 - 164

3. Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts

   • Rishika De
   • Shefali S. Verma
   • Diane Gilbert-Diamond

   Original Investigation 15 November 2016 Pages: 165 - 178

   

4. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism

   • Nuria C. Bramswig
   • H.-J. Lüdecke
   • D. Wieczorek

   Original Investigation 15 November 2016 Pages: 179 - 192

   

5. Regional selection of the brain size regulating gene CASC5 provides new insight into human brain evolution

   • Lei Shi
   • Enzhi Hu
   • Bing Su

   Original Investigation 22 November 2016 Pages: 193 - 204

   

6. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

   • Nisha Patel
   • Deepti Anand
   • Fowzan S. Alkuraya

   Original Investigation 22 November 2016 Pages: 205 - 225

   

7. XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a

   • Yi-Xi Sun
   • Yi-Xin Zhang
   • He-Feng Huang

   Original Investigation 28 November 2016 Pages: 227 - 239

   

8. Mutations in IL36RN are associated with geographic tongue

   • Jianying Liang
   • Peichen Huang
   • Zhirong Yao

   Original Investigation Open access 29 November 2016 Pages: 241 - 252

   

9. Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child

   • Veedamali S. Subramanian
   • Alexandru R. Constantinescu
   • Hamid M. Said

   Original Investigation 30 November 2016 Pages: 253 - 261

   

10. Gene-based analyses reveal novel genetic overlap and allelic heterogeneity across five major psychiatric disorders

    • Huiying Zhao
    • Dale R. Nyholt

    Original Investigation 29 December 2016 Pages: 263 - 274