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Article

Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis.

American journal of medical genetics. Part A - 1 Feb 2026

DuBois Makenna, Dixon Katherine, Sherlaw-Sturrock Charlotte, Shen Yaoqing, Probst Frank, Clarke Lorne, Lyalin Dmitry, Shuman Cheryl, Jones Steven, Boerkoel Cornelius, Stewart Grant S, Richmond Phillip, Myers Angela

Abstract excerpt

Currently, exome and genome sequencing achieve a diagnostic rate of 30%-50% for rare genetic diseases. With multi-modal technologies profiling the genome, transcriptome, and epigenome, interrogation of genomic elements outside of protein-coding regions shows potential to improve this as demonstrated herein. Siblings with sensorineural hearing loss, microcephaly, intellectual impairment, and growth restriction...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40937658
DOI: 10.1002/ajmg.a.64252

Genes

DDX11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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