Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression Roman TremmelKathrin KleinUlrich M. Zanger Original Investigation 30 November 2019 Pages: 137 - 149
MS/MS in silico subtraction-based proteomic profiling as an approach to facilitate disease gene discovery: application to lens development and cataract Sandeep AryalDeepti AnandSalil A. Lachke Original Investigation 03 December 2019 Pages: 151 - 184
Identifying common genome-wide risk genes for major psychiatric traits Sha LiuShuquan RaoFuquan Zhang Original Investigation 07 December 2019 Pages: 185 - 198
A powerful fine-mapping method for transcriptome-wide association studies Chong WuWei Pan Original Investigation 16 December 2019 Pages: 199 - 213
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21 Nandita MukhopadhyayMadison BishopMary L. Marazita Original Investigation Open access 17 December 2019 Pages: 215 - 226
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene Veronica NobileFederica PalumboElisabetta Tabolacci Original Investigation 09 January 2020 Pages: 227 - 245
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy Mariko OkuboSatoru NoguchiIchizo Nishino Original Investigation Open access 09 January 2020 Pages: 247 - 255
Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD Chaofeng TuHongchuan NieYue-Qiu Tan Original Investigation 16 January 2020 Pages: 257 - 271
Editors’ Note to: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population Springer Berlin Heidelberg Editors’ Note 05 December 2019 Pages: 273 - 273
