Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective Zijun ZhuXinyu ChenXue Zhang Review 27 September 2023 Pages: 1543 - 1560
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study Youngjun KimJeong-Min KimMi-Hyun Park Original Investigation Open access 20 September 2023 Pages: 1561 - 1569
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence Karina C. SilveiraInara Chacon FonsecaPeter Kannu Original Investigation Open access 27 September 2023 Pages: 1571 - 1586
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration Kari J. EkenstedtKatie M. MinorJames R. Mickelson Original Investigation Open access 27 September 2023 Pages: 1587 - 1601
Circulating DNA reveals a specific and higher fragmentation of the Y chromosome Alain R. ThierryCynthia SanchezEkaterina Pisareva Original Investigation 25 September 2023 Pages: 1603 - 1609
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism Wanxue XuLacey PlummerMargaret F. Lippincott Original Investigation 07 October 2023 Pages: 1611 - 1619
Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects Huizhen FanZhou ZhouLei Wang Original Investigation 28 September 2023 Pages: 1621 - 1631