Detalhe da pesquisa
1.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Genet Med
; 24(3): 552-563, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906453
2.
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).
Genet Med
; 24(9): 1867-1877, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35657381
3.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906457
4.
Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study.
Gut
; 70(6): 1053-1060, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32855306
5.
Breast cancer risk assessment for prescription of Menopausal Hormone Therapy in women who have a family history of breast cancer.
Br J Gen Pract
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38724186
6.
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome.
Eur J Hum Genet
; 31(11): 1261-1269, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37607989