Mind the gap: resources required to receive, process and interpret research-returned whole genome data Dana C. CrawfordJessica N. Cooke BaileyFarren B. S. Briggs Review 03 June 2019 Pages: 691 - 701
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway Emeline RenardCéline ChéryJean-Louis Guéant Original Investigation 28 May 2019 Pages: 703 - 713
Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution Ian T. FiddesAlex A. PollenJames M. Sikela Original Investigation Open access 13 May 2019 Pages: 715 - 721
A commonly occurring genetic variant within the NPLOC4–TSPAN10–PDE6G gene cluster is associated with the risk of strabismus Denis PlotnikovRupal L. ShahUK Biobank Eye and Vision Consortium Original Investigation Open access 09 May 2019 Pages: 723 - 737
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information Francesca GrazianoGinevra BiinoMario Grassi Original Investigation 01 June 2019 Pages: 739 - 748
Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy Hongliang XuTuo JiXiubing Dong Original Investigation 11 May 2019 Pages: 749 - 756
Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population Zhibiao MaiWanting LiuGong Zhang Original Investigation 05 June 2019 Pages: 757 - 769
Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer Yanrong ZhuHuiting DengZhujun Zhang Original Investigation 05 June 2019 Pages: 771 - 785
Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development Sarah Smithson Book Review Open access 10 June 2019 Pages: 787 - 787
Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer Stephanie A. BienYu-Ru SuUlrike Peters Correction 28 June 2019 Pages: 789 - 791
