1. Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism

   • Zainab Al Masseri
   • Mashael Alqahtani
   • Fowzan S. Alkuraya

   Editorial 24 January 2024 Pages: 101 - 105

   

2. The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC)

   • Shika Hanif Malgundkar
   • Yahya Tamimi

   Review 26 January 2024 Pages: 107 - 124

   

3. Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia

   • Mohamed Abouelhoda
   • Noura Almuqati
   • Fowzan S. Alkuraya

   Original Investigation 30 December 2023 Pages: 125 - 136

   

4. Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population

   • Lin Liu
   • Yuzhou Xue
   • Jin Chen

   Original Investigation 06 January 2024 Pages: 137 - 149

   

5. Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants

   • Vasantha Jotwani
   • Stephanie Y. Yang
   • Dan E. Arking

   Original Investigation Open access 13 February 2024 Pages: 151 - 157

6. Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes

   • Julia Schmidt
   • Silke Kaulfuß
   • Bernd Wollnik

   Original Investigation Open access 24 January 2024 Pages: 159 - 168

   

7. Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder

   • Ashraf Yahia
   • Danyang Li
   • Kristiina Tammimies

   Original Investigation Open access 01 February 2024 Pages: 169 - 183

   

8. Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants

   • Mona Aminbeidokhti
   • Jia-Hua Qu
   • Aleksandar Rajkovic

   Original Investigation Open access 01 February 2024 Pages: 185 - 195

   

9. Screening copy number variations in 35 unsolved inherited retinal disease families

   • Xiaozhen Liu
   • Hehua Dai
   • Jing Hong

   Original Article Open access 29 January 2024 Pages: 197 - 210