A. Callaway

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.

Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms

Paola Guglielmelli, Torsten Haferlach, William Tapper, 2015, Nature Communications.

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.

Four years' experience of live kidney donor follow-up: a single-centre study

M. Mohamed, A. Callaway, C. Wroe, 2016 .

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Value of the loss of heterozygosity to BRCA1 variant classification

A. Spurdle, M. Southey, A. Vincent-Salomon, 2022, npj Breast Cancer.

Value of the loss of heterozygosity to BRCA1 variant classification

A. Spurdle, M. Southey, A. Vincent-Salomon, 2022, NPJ breast cancer.

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.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

E. Haan, S. Mansour, D. Vidaud, 2021, European Journal of Human Genetics.

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.

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

D. Baralle, P. Summerour, D. Eccles, 2018, Journal of Medical Genetics.

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.

ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020

S. Ellard, D. Eccles, W. Newman, 2020 .

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.

Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms.

Helen E White, Daniel Ward, Matthew Lyon, 2015, Leukemia research.

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.

An unusual, activating insertion/deletion MPL mutant in primary myelofibrosis

N. Cross, S. Constantinescu, Y. Hoade, 2017, Leukemia.