Emma Tudini

6PUBLICATIONS
39CO-AUTHORS
Psycholinguistics (incl. speech production and comprehension)Natural language processingGene expression (incl. microarray and other genome-wide approaches)Haematological tumoursCancer genetics
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Publications (6)

|Dec 16, 2024
Consultation informs strategies to improve functional evidence use in variant classification.

Rehan M Villani, Bronwyn Terrill, Emma Tudini

|Jan 05, 2023
Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices.

Emma Tudini, Matilda A Haas, Tessa Mattiske

|Sep 12, 2022
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.

Aimee L Davidson, Olga Kondrashova, Conrad Leonard

|Aug 18, 2022
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Mads Thomassen, Romy L S Mesman, Thomas V O Hansen

|Oct 26, 2021
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype.

Emilia Ip, Catriona McNeil, Peter Grimison

|Nov 10, 2020
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.

Emma Tudini, Aimee L Davidson, Uwe Dressel

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Frequent Collaborators

6 joint publications

Amanda B Spurdle

2 joint publications

Aimee L Davidson

1 joint publications

Uwe Dressel

1 joint publications

Ashley Crook