Ruth E. Cleaver
Exeter, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 13 publications
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.
Journal: American journal of medical genetics. Part A
Published: April 29, 2026
Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trial.
Journal: The lancet. Gastroenterology & hepatology
Published: December 16, 2025
Targeted Prostate Cancer Screening in Carriers of BRCA1 or BRCA2 Pathogenic Germline Variants Detects Clinically Relevant Disease: 5-year Results from the IMPACT Study.
Journal: European urology
Published: October 23, 2025
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed-methods study exploring participant experiences of receiving secondary findings from genomic sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 05, 2024
The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
Journal: BJU international
Published: June 05, 2024
"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.
Journal: European journal of human genetics : EJHG
Published: May 02, 2024
Multiple endocrine neoplasia type 2A syndrome presenting with corneal nerve thickening.
Journal: QJM : monthly journal of the Association of Physicians
Published: November 06, 2023
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Journal: Journal of medical genetics
Published: August 26, 2022
Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective.
Journal: Clinical endocrinology
Published: July 30, 2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Journal: Human molecular genetics
Published: January 18, 2020
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.
Journal: European urology oncology
Published: September 08, 2019
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Journal: American journal of medical genetics. Part A
Published: August 25, 2018
Last Updated: 09/26/2026