Search details
1.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 111(6): 1140-1164, 2024 Jun 06.
Article
in English
| MEDLINE | ID: mdl-38776926
2.
Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis.
J Med Genet
; 61(5): 452-458, 2024 Apr 19.
Article
in English
| MEDLINE | ID: mdl-38302265
3.
Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2.
J Med Genet
; 2024 Apr 12.
Article
in English
| MEDLINE | ID: mdl-38609177
4.
Systematic reanalysis of copy number losses of uncertain clinical significance.
J Med Genet
; 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38604752
5.
Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400.
J Med Genet
; 61(4): 385-391, 2024 Mar 21.
Article
in English
| MEDLINE | ID: mdl-38123987
6.
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
J Med Genet
; 61(4): 305-312, 2024 Mar 21.
Article
in English
| MEDLINE | ID: mdl-38154813
7.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Article
in English
| MEDLINE | ID: mdl-36074901
8.
Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.
J Med Genet
; 60(9): 838-841, 2023 09.
Article
in English
| MEDLINE | ID: mdl-36599646
9.
Detection of pathogenic variants in breast cancer susceptibility genes in bilateral breast cancer.
J Med Genet
; 60(10): 974-979, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37055167
10.
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
J Med Genet
; 60(8): 740-746, 2023 08.
Article
in English
| MEDLINE | ID: mdl-36442995
11.
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.
Article
in English
| MEDLINE | ID: mdl-36572524
12.
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.
Article
in English
| MEDLINE | ID: mdl-33758026
13.
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
J Med Genet
; 59(4): 393-398, 2022 04.
Article
in English
| MEDLINE | ID: mdl-33879512
14.
BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?
Br J Cancer
; 127(1): 163-167, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35260807
15.
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.
Article
in English
| MEDLINE | ID: mdl-35657381
16.
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.
Article
in English
| MEDLINE | ID: mdl-34906453
17.
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Genet Med
; 24(1): 41-50, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906457
18.
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.
Article
in English
| MEDLINE | ID: mdl-33208383
19.
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.
Gut
; 70(6): 1139-1146, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32998877
20.
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.
Genet Med
; 23(10): 1969-1976, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34113003