Emma Tudini
Emma Tudini
Top Publications
- Parsons, MT, de la Hoya, M, Richardson, ME, Tudini, E, Anderson, M, Berkofsky-Fessler, W, Caputo, SM, Chan, RC, Cline, MC, Feng, B-J, et al. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. 2026 view publication
- Villani, RM, Terrill, B, Tudini, E, Matotek, E, Mattiske, T, Cliffe, CC, Thompson, BA, Satgunaseelan, L, Hahn, CN, Lundie, B, et al. Community co-designed workshops build confidence in use of functional evidence for variant classification. 2026 view publication
- Johnatty, SE, Tudini, E, Parsons, MT, Michailidou, K, Zanti, M, Canson, DM, Davidson, AL, Berger, T, Rosti, RO, Kratz, CP, et al. BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.. Am J Hum Genet 112(12) : 2902 -2921 2025 view publication
- Villani, RM, Terrill, B, Tudini, E, McKenzie, ME, Cliffe, CC, Hahn, CN, Lundie, B, Mattiske, T, Matotek, E, McEwen, AE, et al. Consultation informs strategies for improving the use of functional evidence in variant classification.. Am J Hum Genet 112(6) : 1489 -1495 2025 view publication
- Johnatty, SE, Tudini, E, Parsons, MT, Michailidou, K, Zanti, M, Canson, D, Davidson, AL, Berger, T, Rosti, RO, Kratz, CP, et al. Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.. 2025 view publication
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