Suchergebnisse - "Garrett, Alice"

PubPharm (22)

1

Quantifying and mitigating the impact of the COVID-19 pandemic on outcomes in colorectal cancer

enthalten in: bioRxiv.org | 2024

von Sud, A. | Jones, M. | Broggio, J. | +18

2

The PS4-Likelihood Ratio Calculator: Flexible allocation of evidence weighting for case-control data in variant classification

enthalten in: bioRxiv.org | 2024

von Rowlands, C. | Garrett, A. | Allen, S. | +15

3

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data : findings from CanVIG-UK national molecular laboratory survey

enthalten in: Journal of medical genetics | 2024

von Allen, S. | Loong, L. | Garrett, A. | +34

4

Workshop report : the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023

enthalten in: European journal of human genetics : EJHG | 2024

von Allen, S. | Garrett, A. | Muffley, L. | +9

5

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

enthalten in: Journal of medical genetics | 2023

von Loong, L. | Huntley, C. | McRonald, F. | +48

6

A digital pathway for genetic testing in UK NHS patients with cancer : BRCA-DIRECT randomised study internal pilot

enthalten in: Journal of medical genetics | 2022

von Torr, B. | Jones, C. | Choi, S. | +26

7

Reclassification of clinically-detected sequence variants : Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Loong, L. | Garrett, A. | Allen, S. | +21

8

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

enthalten in: Journal of medical genetics | 2022

von Garrett, A. | Talukdar, S. | Izatt, L. | +8

9

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Loong, L. | Cubuk, C. | Choi, S. | +118

10

Quantifying evidence toward pathogenicity for rare phenotypes : The case of succinate dehydrogenase genes, SDHB and SDHD

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Garrett, A. | Loveday, C. | King, L. | +31