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Ruth Cleaver

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals
2019 · Claire Forde, Derek H.K. Lim, et al. · European Urology Oncology · 97
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Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
2023 · Fiona Lalloo, Anju Kulkarni, et al. · European Journal of Human Genetics · 67
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
2018 · DDD Study, Nicola Ragge, et al. · Human Genetics · 56
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2
2022 · Helen Hanson, Anjana Kulkarni, et al. · Journal of Medical Genetics · 55
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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
2020 · Reham Alharatani, Athina Ververi, et al. · Human Molecular Genetics · 42
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Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice
2024 · Olga Tsoulaki, Marc Tischkowitz, et al. · British Journal of Cancer · 26
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Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
2019 · Ruth Cleaver, Jonathan Berg, et al. · American Journal of Medical Genetics Part A · 23
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The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource
2024 · Catherine Huntley, Lucy Loong, et al. · EClinicalMedicine · 18
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Genomic risk model to implement precision prostate cancer screening in clinical care: the ProGRESS study
2026 · Jason L. Vassy, Anna M. Dornisch, et al. · Nature Cancer · 12
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
2021 · Lucy Loong, Cankut Cubuk, et al. · Genetics in Medicine · 11
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Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective
2020 · Jonathan Mark Fussey, Joel Anthony Smith, et al. · Clinical Endocrinology · 10
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Targeted Prostate Cancer Screening in Carriers of BRCA1 or BRCA2 Pathogenic Germline Variants Detects Clinically Relevant Disease: 5-year Results from the IMPACT Study
2026 · Elizabeth K. Bancroft, Elizabeth C. Page, et al. · European Urology · 9
“I’m quite proud of how we’ve handled it”: health professionals’ experiences of returning additional findings from the 100,000 genomes project
2024 · Bethany Stafford-Smith, Jana Gurasashvili, et al. · European Journal of Human Genetics · 9
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The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers
2024 · Elizabeth K. Bancroft, Elizabeth C. Page, et al. · British Journal of Urology · 8
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
2025 · Sophie Allen, Charlie F. Rowlands, et al. · Genetics in Medicine · 3
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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
2025 · Bethany Stafford-Smith, Morgan Daniel, et al. · Genetics in Medicine · 2
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An International Multicenter Prospective Observational Clinical Study to Identify Gene-expression Sepsis Immune Subgroups and Their Associations With Clinical Outcomes
2024 · D.B. Antcliffe, E. Peronnet, et al. · American Journal of Respiratory and Critical Care Medicine · 1
Multiple endocrine neoplasia type 2A syndrome presenting with corneal nerve thickening
2023 · I Petrie, N Knox Cartwright, et al. · QJM · 1
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Acceptability, usability and pilot implementation feasibility of the Lynch Choices digital decision support intervention: a preliminary survey evaluation by individuals with Lynch syndrome and their relatives
2026 · Kelly Kohut, Lesley Turner, et al. · BMC Cancer
CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes
2026 · Charlie F. Rowlands, Subin Choi, et al. · The American Journal of Human Genetics
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Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy
2026 · Donald R. Latner, Susan M. Hiatt, et al. · American Journal of Medical Genetics Part A
Experiences of patients and public partners in codesign of Lynch Choices™: an evaluation study using the Patient Engagement In Research Scale (PEIRS-22)
2026 · Kelly Kohut, Lesley Turner, et al. · Research Involvement and Engagement
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
2023 · Fiona Lalloo, Anju Kulkarni, et al. · Newcastle University ePrints (Newcastle Univesity)
Works count: 23
Citation count: 450
H-index: 10
I10-index: 11
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