Volume 142, Issue 10

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October 2023

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8 articles in this issue

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
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
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
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
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
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
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
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

Volume 142, Issue 10

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

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

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

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

A founder DBR1 variant causes a lethal form of congenital ichthyosis

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

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

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

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