Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism Zainab Al MasseriMashael AlqahtaniFowzan S. Alkuraya Editorial 24 January 2024 Pages: 101 - 105
The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC) Shika Hanif MalgundkarYahya Tamimi Review 26 January 2024 Pages: 107 - 124
Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia Mohamed AbouelhodaNoura AlmuqatiFowzan S. Alkuraya Original Investigation 30 December 2023 Pages: 125 - 136
Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population Lin LiuYuzhou XueJin Chen Original Investigation 06 January 2024 Pages: 137 - 149
Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants Vasantha JotwaniStephanie Y. YangDan E. Arking Original Investigation Open access 13 February 2024 Pages: 151 - 157
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes Julia SchmidtSilke KaulfußBernd Wollnik Original Investigation Open access 24 January 2024 Pages: 159 - 168
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder Ashraf YahiaDanyang LiKristiina Tammimies Original Investigation Open access 01 February 2024 Pages: 169 - 183
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants Mona AminbeidokhtiJia-Hua QuAleksandar Rajkovic Original Investigation Open access 01 February 2024 Pages: 185 - 195
Screening copy number variations in 35 unsolved inherited retinal disease families Xiaozhen LiuHehua DaiJing Hong Original Article Open access 29 January 2024 Pages: 197 - 210