1. Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective

   • Zijun Zhu
   • Xinyu Chen
   • Xue Zhang

   Review 27 September 2023 Pages: 1543 - 1560

   

2. Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study

   • Youngjun Kim
   • Jeong-Min Kim
   • Mi-Hyun Park

   Original Investigation Open access 20 September 2023 Pages: 1561 - 1569

   

3. CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence

   • Karina C. Silveira
   • Inara Chacon Fonseca
   • Peter Kannu

   Original Investigation Open access 27 September 2023 Pages: 1571 - 1586

   

4. A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration

   • Kari J. Ekenstedt
   • Katie M. Minor
   • James R. Mickelson

   Original Investigation Open access 27 September 2023 Pages: 1587 - 1601

   

5. Circulating DNA reveals a specific and higher fragmentation of the Y chromosome

   • Alain R. Thierry
   • Cynthia Sanchez
   • Ekaterina Pisareva

   Original Investigation 25 September 2023 Pages: 1603 - 1609

   

6. How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism

   • Wanxue Xu
   • Lacey Plummer
   • Margaret F. Lippincott

   Original Investigation 07 October 2023 Pages: 1611 - 1619

   

7. Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects

   • Huizhen Fan
   • Zhou Zhou
   • Lei Wang

   Original Investigation 28 September 2023 Pages: 1621 - 1631