Detalhe da pesquisa
1.
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
J Med Genet
; 60(7): 669-678, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36572524
2.
Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers.
J Med Genet
; 59(4): 328-334, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33452216
3.
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
J Med Genet
; 59(2): 115-121, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33758026
4.
Rural parents' adherence to infant feeding guidelines to prevent allergy: a cross sectional study in New South Wales.
BMC Public Health
; 23(1): 2458, 2023 12 08.
Artigo
Inglês
| MEDLINE | ID: mdl-38066470
5.
Screening of potential novel candidate genes in schwannomatosis patients.
Hum Mutat
; 43(10): 1368-1376, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35723634
6.
Re-evaluation of missense variant classifications in NF2.
Hum Mutat
; 43(5): 643-654, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35332608
7.
BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
Br J Cancer
; 127(1): 163-167, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35260807
8.
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
Inglês
| MEDLINE | ID: mdl-34906453
9.
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
Inglês
| MEDLINE | ID: mdl-35657381
10.
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
Inglês
| MEDLINE | ID: mdl-34906457
11.
Assessment of mismatch repair deficiency in ovarian cancer.
J Med Genet
; 58(10): 687-691, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32917768
12.
Sporadic vestibular schwannoma: a molecular testing summary.
J Med Genet
; 58(4): 227-233, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32576656
13.
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
J Med Genet
; 58(5): 297-304, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33208383
14.
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.
Am J Hum Genet
; 103(2): 213-220, 2018 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30075112
15.
HNRNPA1 promotes recognition of splice site decoys by U2AF2 in vivo.
Genome Res
; 28(5): 689-698, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29650551
16.
Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women.
Breast Cancer Res Treat
; 189(3): 677-687, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34312777
17.
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Genet Med
; 23(10): 1969-1976, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34113003
18.
British Gynaecological Cancer Society/British Association of Gynaecological Pathology consensus for germline and tumor testing for BRCA1/2 variants in ovarian cancer in the United Kingdom.
Int J Gynecol Cancer
; 31(2): 272-278, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33468564
19.
Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time-dependent.
J Med Genet
; 2020 Apr 30.
Artigo
Inglês
| MEDLINE | ID: mdl-32354797
20.
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
J Med Genet
; 57(12): 829-834, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32170000