R. Cleaver

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.

D. Evans, F. Lalloo, G. Burghel, 2019, European urology oncology.

UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

A. Antoniou, Aarti Sharma, K. Williamson, 2022, Journal of Medical Genetics.

Diagnostic RET genetic testing in 1,058 index patients: A UK centre perspective

S. Ellard, B. Vaidya, M. Owens, 2020, Clinical endocrinology.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Emily K. Mis, E. Zackai, D. Baralle, 2019, bioRxiv.

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

P. Tarpey, D. Baralle, J. Tolmie, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

W. Newman, P. Calvas, N. Chassaing, 2018, Human Genetics.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

K. Lachlan, M. Parker, S. Sharif, 2019, American journal of medical genetics. Part A.

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

H. Helgadottir, F. Lalloo, M. Nielsen, 2023, European Journal of Human Genetics.

The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource

F. Lalloo, A. Donaldson, K. Ong, 2024, EClinicalMedicine.