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.
Screening of potential novel candidate genes in schwannomatosis patients.
Hum Mutat
; 43(10): 1368-1376, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35723634
5.
Re-evaluation of missense variant classifications in NF2.
Hum Mutat
; 43(5): 643-654, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35332608
6.
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
7.
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
8.
Assessment of mismatch repair deficiency in ovarian cancer.
J Med Genet
; 58(10): 687-691, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32917768
9.
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
10.
Sporadic vestibular schwannoma: a molecular testing summary.
J Med Genet
; 58(4): 227-233, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32576656
11.
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
12.
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
13.
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
14.
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
15.
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
16.
The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study.
PLoS Med
; 17(9): e1003263, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32941469
17.
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Genet Med
; 22(1): 53-59, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31273341
18.
Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases.
J Med Genet
; 56(5): 301-307, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30683677
19.
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.
Genet Med
; 21(7): 1525-1533, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30523344
20.
Confirmation that somatic mutations of beta-2 microglobulin correlate with a lack of recurrence in a subset of stage II mismatch repair deficient colorectal cancers from the QUASAR trial.
Histopathology
; 75(2): 236-246, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31062389