Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154813
2.
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
em Inglês
| MEDLINE | ID: mdl-36572524
3.
Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years.
J Med Genet
; 59(6): 554-558, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34266904
4.
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.
J Med Genet
; 59(12): 1179-1188, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868849
5.
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
6.
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
7.
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
8.
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
em Inglês
| MEDLINE | ID: mdl-33208383
9.
Paper-based microfluidics for DNA diagnostics of malaria in low resource underserved rural communities.
Proc Natl Acad Sci U S A
; 116(11): 4834-4842, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30782834
10.
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
11.
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
J Med Genet
; 57(12): 829-834, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32170000
12.
Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study.
Lancet Oncol
; 21(8): 1035-1044, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32702311
13.
Demonstrating the Use of Optical Fibres in Biomedical Sensing: A Collaborative Approach for Engagement and Education.
Sensors (Basel)
; 20(2)2020 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31936827
14.
The impact of artificial intelligence on the current and future practice of clinical cancer genomics.
Genet Res (Camb)
; 101: e9, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668155
15.
Paper microfluidic implementation of loop mediated isothermal amplification for early diagnosis of hepatitis C virus.
Nat Commun
; 12(1): 6994, 2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34848705
16.
First Trimester Circulating MicroRNA Biomarkers Predictive of Subsequent Preterm Delivery and Cervical Shortening.
Sci Rep
; 9(1): 5861, 2019 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30971726
17.
Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023.
Eur J Hum Genet
; 32(5): 593-600, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38433264
18.
The nature and prevalence of chronic pain in homeless persons: an observational study.
F1000Res
; 2: 164, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24555079