1. The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review

   • Charles L. Ford
   • William J. Riggs
   • Vassili Valayannopoulos

   Review Open access 07 September 2023 Pages: 1429 - 1449

   

2. Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm

   • Takeshi Sugimoto
   • Hidehito Inagaki
   • Hiroki Kurahashi

   Original Investigation Open access 24 August 2023 Pages: 1451 - 1460

   

3. Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs

   • Julian Daniel Sunday Willett
   • Tianyuan Lu
   • J. Brent Richards

   Original Investigation Open access 28 August 2023 Pages: 1461 - 1476

   

4. Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts

   • Mohammad Yaser Anwar
   • Mariaelisa Graff
   • Kari E. North

   Original Investigation 01 September 2023 Pages: 1477 - 1489

5. A founder DBR1 variant causes a lethal form of congenital ichthyosis

   • Hanan E. Shamseldin
   • Mukunth Sadagopan
   • Fowzan S. Alkuraya

   Original Investigation 01 September 2023 Pages: 1491 - 1498

   

6. CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct

   • Isabelle Roux
   • Cristina Fenollar-Ferrer
   • Andrew J. Griffith

   Original Investigation Open access 05 September 2023 Pages: 1499 - 1517

   

7. Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins

   • Cheuk Yan Chung
   • Dora Jue Pan
   • Kwong Wai Choy

   Original Investigation 05 September 2023 Pages: 1519 - 1529

   

8. Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes

   • Sarah W. Curtis
   • Jenna C. Carlson
   • Elizabeth J. Leslie

   Original Investigation 07 September 2023 Pages: 1531 - 1541