The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review Charles L. FordWilliam J. RiggsVassili Valayannopoulos Review Open access 07 September 2023 Pages: 1429 - 1449
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm Takeshi SugimotoHidehito InagakiHiroki Kurahashi Original Investigation Open access 24 August 2023 Pages: 1451 - 1460
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs Julian Daniel Sunday WillettTianyuan LuJ. Brent Richards Original Investigation Open access 28 August 2023 Pages: 1461 - 1476
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts Mohammad Yaser AnwarMariaelisa GraffKari E. North Original Investigation 01 September 2023 Pages: 1477 - 1489
A founder DBR1 variant causes a lethal form of congenital ichthyosis Hanan E. ShamseldinMukunth SadagopanFowzan S. Alkuraya Original Investigation 01 September 2023 Pages: 1491 - 1498
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct Isabelle RouxCristina Fenollar-FerrerAndrew J. Griffith Original Investigation Open access 05 September 2023 Pages: 1499 - 1517
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins Cheuk Yan ChungDora Jue PanKwong Wai Choy Original Investigation 05 September 2023 Pages: 1519 - 1529
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes Sarah W. CurtisJenna C. CarlsonElizabeth J. Leslie Original Investigation 07 September 2023 Pages: 1531 - 1541