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Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.

Annals of human genetics - 1 Jan 2024

Orr Sarah, Olinger Eric, Iosifidou Sotia, Barroso-Gil Miguel, Neatu Ruxandra, Wood Katrina, Wilson Ian, Sayer John Andrew

Abstract excerpt

INTRODUCTION: Massively parallel sequencing (MPS) techniques have made a major impact on the identification of the genetic basis of inherited kidney diseases such as the ciliopathy autosomal dominant polycystic kidney disease (ADPKD). Great care must be taken when analysing MPS data in isolation from accurate phenotypic information, as this can cause misdiagnosis. METHODS: Here, we describe a family trio,...

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PMID: 37042117
DOI: 10.1111/ahg.12508

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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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