CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling Jiaqi LiuYangzhong ZhouNan Wu Review Open access 02 November 2016 Pages: 1 - 12
Copy number variability in Parkinson’s disease: assembling the puzzle through a systems biology approach Valentina La CognataGiovanna MorelloSebastiano Cavallaro Review Open access 28 November 2016 Pages: 13 - 37
Atlas of human diseases influenced by genetic variants with extreme allele frequency differences Arvis SulovariYolanda H. ChenDawei Li Original Investigation 03 October 2016 Pages: 39 - 54
Network analysis of mitonuclear GWAS reveals functional networks and tissue expression profiles of disease-associated genes Simon C. JohnsonBrenda GonzalezYousin Suh Original Investigation Open access 04 October 2016 Pages: 55 - 65
Preferential use of minor codons in the translation initiation region of human genes Jung-Ho ParkMunjin KwonMasayori Inouye Original Investigation 11 October 2016 Pages: 67 - 74
Genetic factor common to schizophrenia and HIV infection is associated with risky sexual behavior: antagonistic vs. synergistic pleiotropic SNPs enriched for distinctly different biological functions Qian WangRenato PolimantiJoel Gelernter Original Investigation 17 October 2016 Pages: 75 - 83
Complete mitochondrial genomes of Thai and Lao populations indicate an ancient origin of Austroasiatic groups and demic diffusion in the spread of Tai–Kadai languages Wibhu KutananJatupol KampuansaiMark Stoneking Original Investigation Open access 11 November 2016 Pages: 85 - 98
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia Hanan E. ShamseldinOla KhalifaFowzan S. Alkuraya Original Investigation 12 November 2016 Pages: 99 - 105
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect Justin A. PaterTammy BenteauTerry-Lynn Young Original Investigation Open access 12 November 2016 Pages: 107 - 118
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders R. HoltS. A. Ugur IseriNicola Ragge Original Investigation 14 November 2016 Pages: 119 - 127