1. A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer

   • James J. Kang
   • Isabelle Y. Liu
   • Eri S. Srivatsan

   Review 29 March 2016 Pages: 675 - 684

   

2. Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy

   • Emanuela Viggiano
   • Manuela Ergoli
   • Luisa Politano

   Review 21 April 2016 Pages: 685 - 698

3. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

   • Volkan Okur
   • Megan T. Cho
   • Wendy K. Chung

   Original Investigation 05 April 2016 Pages: 699 - 705

   

4. A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

   • Ranad Shaheen
   • Lu Han
   • Fowzan S. Alkuraya

   Original Investigation 07 April 2016 Pages: 707 - 713

   

5. FCGR3A and FCGR3B copy number variations are risk factors for sarcoidosis

   • Jianming Wu
   • Yunfang Li
   • Maneesh Bhargava

   Original Investigation 08 April 2016 Pages: 715 - 725

   

6. Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation from unmapped sequence reads

   • Joshua J. Faber-Hammond
   • Kim H. Brown

   Original Investigation 09 April 2016 Pages: 727 - 740

   

7. Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

   • Gabriel Cuellar-Partida
   • Yi Lu
   • Stuart MacGregor

   Original Investigation 13 April 2016 Pages: 741 - 756

   

8. An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

   • Jonathan D. J. Labonne
   • Kang-Han Lee
   • Hyung-Goo Kim

   Original Investigation 22 April 2016 Pages: 757 - 771

   

9. A null mutation in TNIK defines a novel locus for intellectual disability

   • Shams Anazi
   • Hanan E. Shamseldin
   • Fowzan S. Alkuraya

   Original Investigation 22 April 2016 Pages: 773 - 778

   

10. Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids)

    • Lyubov E. Salnikova
    • Maryam B. Khadzhieva
    • Dmitry S. Kolobkov

    Original Investigation 28 April 2016 Pages: 779 - 795

    

11. Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis

    • Jinting Guan
    • Ence Yang
    • James J. Cai

    Original Investigation 30 April 2016 Pages: 797 - 811

    

12. Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients

    • Joanna Jakubiczka-Smorag
    • Jose Angel Santamaria-Araujo
    • Lukasz Smorag

    Original Investigation 02 May 2016 Pages: 813 - 826

    

13. Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits

    • Ben M. Brumpton
    • Manuel A. R. Ferreira

    Original Investigation 07 May 2016 Pages: 827 - 839