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Alison Callaway | doi.page

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Alison Callaway

University Hospital Southampton NHS Foundation Trust(GB)Genomics England(GB)Salisbury NHS Foundation Trust(GB)

Publications by Year

Research Areas

Genomics and Rare Diseases, Genetic Associations and Epidemiology, BRCA gene mutations in cancer, Cancer Genomics and Diagnostics, Genetic factors in colorectal cancer

Most-Cited Works

→ Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848(2017)205 cited
→ Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms(2015)162 cited
→ Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes(2021)77 cited
→ Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms(2014)67 cited
→ Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations(2020)62 cited
→ Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network(2020)54 cited

→ Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation(2018)

38 cited

→ Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)(2022)28 cited

→ Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants(2021)16 cited

→ Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study(2021)14 cited