Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A. et al, (2024), Genetics in medicine : official journal of the American College of Medical Genetics, 27
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF. et al, (2024), Journal of medical genetics, 61, 983 - 991
Ethical preparedness in genomic medicine: how NHS clinical scientists navigate ethical issues
Sahan K. et al, (2024), Journal of Medical Ethics, 50, 517 - 522
Reproductive decision-making in cancer susceptibility syndromes.
Carley H. and Kulkarni A., (2024), Best practice & research. Clinical obstetrics & gynaecology
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice
Redman MG. et al, (2024), Journal of Medical Genetics, 61, 313 - 318
Ethical preparedness in health research and care: the role of behavioural approaches.
Samuel G. et al, (2022), BMC medical ethics, 23
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
Loong L. et al, (2022), Genetics in Medicine, 24, 552 - 563
Isolated- and Beckwith-Wiedemann syndrome related- lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals.
Radley JA. et al, (2021), Clinical genetics, 100, 292 - 297
From Beyond the Grave: Use of Medical Information from the Deceased to Guide Care of Living Relatives.
Tadros S. et al, (2020), Current genetic medicine reports, 8, 147 - 153
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
Stals KL. et al, (2018), Prenatal Diagnosis, 38, 33 - 43
Advances in the recognition and management of hereditary cancer.
Kulkarni A. and Carley H., (2016), British medical bulletin, 120, 123 - 138