Publications by authors named "Nitsan Rotenberg"

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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, Nitsan Rotenberg

Am J Hum Genet· December 2025

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Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants.
Nitsan Rotenberg, Cristina Fortuno, Matthew J Varga, Adam C Chamberlin, Lobna Ramadane-Morchadi

Am J Hum Genet· May 2025

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ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.
Lobna Ramadane-Morchadi, Nitsan Rotenberg, Ada Esteban-Sánchez, Cristina Fortuno, Alicia Gómez-Sanz

Am J Hum Genet· May 2025

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Analysis of , and related Fanconi anemia identifies 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, Nitsan Rotenberg

medRxiv· May 2025

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