Emma Tudini

发表

Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype

A. Spurdle, R. Scott, P. Guitera, 2021, Journal of Medical Genetics.

Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility

L. Andrews, A. Spurdle, J. Kirk, 2020, Journal of Medical Genetics.

Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.

Kenneth D. Doig, K. Friend, J. Pearson, 2022, American journal of human genetics.

Classification of genetic variants in hereditary cancer genes

L. Feliubadaló, M. Parsons, M. Pineda, 2021 .

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Katherine M. Tucker, Sebastian A. Wagner, Kelly J. Sullivan, 2019, Human Mutation.

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Leslie Burke, Thilo Dörk, Paolo Radice, 2019, Journal of Medical Genetics.

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

A. Spurdle, C. Lázaro, A. V. D. van den Ouweland, 2018, Breast Cancer Research and Treatment.

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

L. Andrews, P. Møller, A. Spurdle, 2022, Human mutation.

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Etienne Rouleau, Paolo Peterlongo, Eliseos J Mucaki, 2018, Human mutation.

The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

S. Cross, M. Beckmann, P. Fasching, 2018, Human mutation.

Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.

P. Lockhart, I. Scheffer, J. Gécz, 2023, American journal of human genetics.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices

A. Spurdle, M. Haas, Emma Tudini, 2023, Journal of Medical Genetics.

Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al.

A. Spurdle, S. Tavtigian, K. Yap, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions

J. Pearson, A. Spurdle, N. Waddell, 2022, Human mutation.

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

Katherine M. Tucker, A. Spurdle, N. Waddell, 2023, Genome Medicine.

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

F. Couch, A. Spurdle, M. Southey, 2024, medRxiv.