Publications by authors named "T Pesaran"

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BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Sharon E Johnatty, Emma Tudini, Michael T Parsons, Kyriaki Michailidou, Maria Zanti, Tina Pesaran

Am J Hum Genet· December 2025

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Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer.
Sophie Allen, Charlie F Rowlands, Samantha Butler, Miranda Durkie, Carrie Horton, Tina Pesaran

Genet Med· November 2025

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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.
Marcy E Richardson, Megan F H Bishop, Megan A Holdren, Miguel de la Hoya, Amanda B Spurdle, Tina Pesaran

Am J Hum Genet· October 2025

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A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Cristina Fortuno, Megan N Frone, Jessica Mester, Miguel de la Hoya, Phuong L Mai, Tina Pesaran

Genome Med· October 2025

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Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.
D I Ritter, C Badduke, K Doonanco, H C Kang, T Pesaran

medRxiv· August 2025

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