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Article

Identification of USP9X as a leukemia susceptibility gene.

Blood advances - 22 Aug 2023

Sisoudiya Saumya Dushyant, Mishra Pamela, Li He, Schraw Jeremy M, Scheurer Michael E, Salvi Sejal, Doddapaneni Harsha, Muzny Donna, Mitchell Danielle, Taylor Olga, Sabo Aniko, Lupo Philip J, Plon Sharon E

Abstract excerpt

We recently reported that children with multiple birth defects have a significantly higher risk of childhood cancer. We performed whole-genome sequencing on a cohort of probands from this study with birth defects and cancer and their parents. Structural variant analysis identified a novel 5 kb de novo heterozygous inframe deletion overlapping the catalytic domain of USP9X in a female proband with multiple birth...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37289514
DOI: 10.1182/bloodadvances.2023009814
PMCID: PMC10425687

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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