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Article

Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism.

The Journal of molecular diagnostics : JMD - 1 Jun 2025

Wei Shan, Lattin Miriam Temmeh, Morgan Stephanie, DiBianco Leah, Chen Jocelyn, Galloway Stephanie, Karipcin Sinem, Wapner Ronald, Landau Chaim, Forman Eric J, Chung Wendy K, Williams Zev

Abstract excerpt

Sperm mosaicism, the presence of a pathogenic variant in a subset of sperm, is an important cause of heritable genetic disease. However, clinical testing for sperm mosaicism outside research has been limited by the lack of Clinical Laboratory Improvement Amendments (CLIA)-validated results deliverable to patients. We developed the Sensitive Assay for Mosaicism (SAM), a two-phase method for sperm mosaicism...

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Share to FGFR3 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 3

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Source

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Identifiers

PMID: 40158886
DOI: 10.1016/j.jmoldx.2025.03.002
PMCID: PMC12163382

Genes

FGFR3
FAM111A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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