Author

C. Zalewski

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Open access Jan 2026

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss

Purpose This study interrogates longitudinal natural history data to determine whether hearing loss (HL) incidence, onset, degree, and type in osteogenesis imperfecta (OI) caused by heterozygous collagen missense variants are associated with a specific gene or combinations of causal gene and OI type. Methods Audiologic...

Julie Christensen, Anne Tran, Hui Cheng et al. · Human Mutation · 0 citations

Open access Aug 2026

The Audiologic and Otolaryngologic Phenotype in WHIM Syndrome.

OBJECTIVE WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis syndrome) is an ultra-rare primary immunodeficiency disease caused by autosomal dominant hyperfunctional mutations in the chemokine receptor CXCR4. Otolaryngologists are frequently consulted to evaluate WHIM patients because of recurre...

C. Zalewski, H. J. Kim, Carmen C. Brewer et al. · Otolaryngology Head & Neck S... · 0 citations

Open access Jul 2026

Germline NF2 variant position constrains somatic second hits and determines clinical severity in Neurofibromatosis Type 2-related schwannomatosis

A second-hit modifier to the Mendelian first-hit was identified: severe germline variants were associated with milder somatic variants, and vice versa, which partly explains the variable expressivity in NF2-SWN.

N. Ravindra, David T. Asuzu, Emma C. Celano et al. · medRxiv · 0 citations