A. Garrett

发表

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

D. Baralle, S. Ellard, D. Eccles, 2020, Journal of Medical Genetics.

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

E. Riboli, R. Houlston, D. Nicol, 2020, Gut.

Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

R. Houlston, S. Hanks, P. Law, 2022, Annals of oncology : official journal of the European Society for Medical Oncology.

Collateral damage: the impact on cancer outcomes of the COVID-19pandemic

P. Pharoah, R. Houlston, D. Nicol, 2020, medRxiv.

The impact of artificial intelligence on the current and future practice of clinical cancer genomics

K. Snape, A. Garrett, Olivia Greatbatch, 2019, Genetics research.

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

S. Ellard, D. Eccles, C. Turnbull, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

L. Fallowfield, C. Turnbull, M. Hubank, 2022, Journal of Medical Genetics.

Effect of delays in the UK two-week wait cancer referral pathway during the COVID-19 pandemic on cancer survival: a modelling study

E. Riboli, R. Houlston, D. Nicol, 2020 .

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

S. Talukdar, A. Brady, L. Izatt, 2021, Journal of Medical Genetics.

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

E. Riboli, R. Houlston, D. Nicol, 2020, The Lancet Oncology.

Phenotype evaluation and clinical context

Clare Turnbull, Alice Garrett, C. Turnbull, 2021 .

Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

D. Eccles, C. Turnbull, J. Ware, 2021, Genetics in Medicine.

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

S. Ellard, D. Eccles, C. Turnbull, 2020, Journal of Medical Genetics.

First Trimester Circulating MicroRNA Biomarkers Predictive of Subsequent Preterm Delivery and Cervical Shortening

Sung Hye Kim, D. MacIntyre, L. Kindinger, 2019, Scientific Reports.

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

P. Tarpey, D. Baralle, J. Tolmie, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

C. Turnbull, J. Ware, N. Whiffin, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Collateral damage: the impact on outcomes from cancer surgery of the COVID-19 pandemic

R. Houlston, C. Swanton, C. Turnbull, 2020, Annals of Oncology.

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

E. Riboli, R. Houlston, C. Turnbull, 2020, medRxiv.

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

A. Antoniou, D. Eccles, C. Turnbull, 2022, Journal of Medical Genetics.

First Trimester Circulating MicroRNA Biomarkers Predictive of Subsequent Preterm Delivery and Cervical Shortening

Sung Hye Kim, D. MacIntyre, L. Kindinger, 2019, Scientific Reports.