Multiplexed assays of variant effects contribute to a growing genotype–phenotype atlas Jochen WeileFrederick P. Roth Review Open access 02 August 2018 Pages: 665 - 678
Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases Bincui CaiShuo SunXiaorong Li Review 10 September 2018 Pages: 679 - 688
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis Renqian DuNuriye DinckanZ. Oya Uyguner Original Investigation 26 July 2018 Pages: 689 - 703
Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis Amit KishoreBritt-Sabina PetersenMartin Petrek Original Investigation 27 July 2018 Pages: 705 - 716
Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression Paolo DevannaMaartje van de VorstSonja C. Vernes Original Investigation Open access 10 August 2018 Pages: 717 - 721
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease E. R. SchiffM. FramptonA. P. Levine Original Investigation Open access 22 August 2018 Pages: 723 - 734
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability Regie Lyn P. Santos-CortezValeed KhanSuzanne M. Leal Original Investigation 22 August 2018 Pages: 735 - 752
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) Nuria C. BramswigAida M. Bertoli-AvellaDagmar Wieczorek Original Investigation 23 August 2018 Pages: 753 - 768