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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 cancer. Sequence data were linked to Human Phenotype Ontology (HPO) terms entered by recruiting clinicians. METHODS:...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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