Concepedia

Emma Tudini

ET

Statistics

Publications

11

Citations

522

H-Index

10

Active since

2018

Affiliations

QIMR Berghofer Medical Research Institute(Current)

The University of Queensland

The University of Melbourne

University of Utah

Fondazione IRCCS Istituto Nazionale dei Tumori

Emma Tudini is an author at QIMR Berghofer Medical Research Institute specializing in genetics, cancer genetics, and molecular genetics.

ORCID

Publications per year

2018–2024

11

Publications

11

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

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 152 citations · Full text

, , +17

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

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

, , +17

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

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson et al. · The American Journal of Human Genetics · 2024 · 90 citations · Full text

, , +13

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

Amanda B. Spurdle, Stephanie Greville‐Heygate, Antonis C. Antoniou et al. · Journal of Medical Genetics · 2019 · 56 citations · Full text

, , +15

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

Leslie Burke, Jan Ševčı́k, Gaetana Gambino et al. · Human Mutation · 2018 · 27 citations · Full text

, , +16

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