Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.

doi:10.1136/jmedgenet-2021-108065

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Article

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.

Journal of medical genetics - 1 Aug 2022

Best Sunayna, Lord Jenny, Roche Matthew, Watson Christopher M, Poulter James A, Bevers Roel P J, Stuckey Alex, Szymanska Katarzyna, Ellingford Jamie M, Carmichael Jenny, Brittain Helen, Toomes Carmel, Inglehearn Chris, Johnson Colin A, Wheway Gabrielle

Abstract excerpt

BACKGROUND: Primary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the 'cell's antenna'. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL), recruiting National Health Service (NHS) patients with eligible rare diseases and cance...

Topics

Abnormalities, Multiple
Ciliopathies
Eye Abnormalities
Humans
Kidney Diseases, Cystic
Phenotype
State Medicine

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Identifiers

PMID: 34716235
DOI: 10.1136/jmedgenet-2021-108065
PMCID: PMC9340050

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-34716235-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.