1. A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

   • Sandra Szczepanski
   • Muhammad Sajid Hussain
   • Peter Nürnberg

   Original Investigation 30 November 2015 Pages: 157 - 170

   

2. A new method for estimating effect size distribution and heritability from genome-wide association summary results

   • Lei Zhang
   • Yue-Ping Shen
   • Yu-Fang Pei

   Original Investigation 10 December 2015 Pages: 171 - 184

   

3. Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements

   • Luiza Sisdelli
   • Angela Cristina Vidi
   • Gianna Carvalheira

   Original Investigation 15 December 2015 Pages: 185 - 192

   

4. Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

   • Corina Shtir
   • Mohammed A. Aldahmesh
   • Fowzan S. Alkuraya

   Original Investigation 22 December 2015 Pages: 193 - 200

   

5. APOH interacts with FTO to predispose to healthy thinness

   • Sandra J. Hasstedt
   • Hilary Coon
   • Steven C. Hunt

   Original Investigation 28 December 2015 Pages: 201 - 207

   

6. Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations

   • Masako Yaoita
   • Tetsuya Niihori
   • Yoko Aoki

   Original Investigation 29 December 2015 Pages: 209 - 222

   

7. Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines

   • Zhou Zhang
   • Yinan Zheng
   • Wei Zhang

   Original Investigation 30 December 2015 Pages: 223 - 232

   

8. Differential gene expression levels might explain association of LAIR2 polymorphisms with pemphigus

   • Carolina Maciel Camargo
   • Danillo G. Augusto
   • Maria Luiza Petzl-Erler

   Original Investigation 31 December 2015 Pages: 233 - 244

   

9. GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

   • Hanan E. Shamseldin
   • Alexis H. Bennett
   • Fowzan S. Alkuraya

   Original Investigation 07 January 2016 Pages: 245 - 251

   

10. Chimeric transcripts resulting from complex duplications in chromosome Xq28

    • Luciana W. Zuccherato
    • Benjamin Alleva
    • James R. Lupski

    Short Report 14 December 2015 Pages: 253 - 256

    

11. Jones EM and Tansey EM (eds): Clinical molecular genetics in the UK c.1975–c.2000. Wellcome witnesses to contemporary medicine, vol 48

    • Andrew Wilkie

    Book Review 29 December 2015 Pages: 257 - 258