A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer James J. KangIsabelle Y. LiuEri S. Srivatsan Review 29 March 2016 Pages: 675 - 684
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy Emanuela ViggianoManuela ErgoliLuisa Politano Review 21 April 2016 Pages: 685 - 698
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features Volkan OkurMegan T. ChoWendy K. Chung Original Investigation 05 April 2016 Pages: 699 - 705
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition Ranad ShaheenLu HanFowzan S. Alkuraya Original Investigation 07 April 2016 Pages: 707 - 713
FCGR3A and FCGR3B copy number variations are risk factors for sarcoidosis Jianming WuYunfang LiManeesh Bhargava Original Investigation 08 April 2016 Pages: 715 - 725
Anchored pseudo-de novo assembly of human genomes identifies extensive sequence variation from unmapped sequence reads Joshua J. Faber-HammondKim H. Brown Original Investigation 09 April 2016 Pages: 727 - 740
Assessing the genetic architecture of epithelial ovarian cancer histological subtypes Gabriel Cuellar-PartidaYi LuStuart MacGregor Original Investigation 13 April 2016 Pages: 741 - 756
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. LabonneKang-Han LeeHyung-Goo Kim Original Investigation 22 April 2016 Pages: 757 - 771
A null mutation in TNIK defines a novel locus for intellectual disability Shams AnaziHanan E. ShamseldinFowzan S. Alkuraya Original Investigation 22 April 2016 Pages: 773 - 778
Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids) Lyubov E. SalnikovaMaryam B. KhadzhievaDmitry S. Kolobkov Original Investigation 28 April 2016 Pages: 779 - 795
Exploiting aberrant mRNA expression in autism for gene discovery and diagnosis Jinting GuanEnce YangJames J. Cai Original Investigation 30 April 2016 Pages: 797 - 811
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients Joanna Jakubiczka-SmoragJose Angel Santamaria-AraujoLukasz Smorag Original Investigation 02 May 2016 Pages: 813 - 826
Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits Ben M. BrumptonManuel A. R. Ferreira Original Investigation 07 May 2016 Pages: 827 - 839
