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Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls
Date: November 12, 2025Authors:Adriá López-Fernández, Alexandre Dias, Ana Maria Pedro, Ana Patiño, André Pinto-Oliveira, …Journal: GutCollaborators: -
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Date: November 12, 2025Authors:Adam Nelson, Agata Smogorzewska, Aimee L Davidson, Alexander J M Dingemans, Amanda B. Spurdle, …Journal: American Journal of Human GeneticsCollaborators: -
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
Date: September 8, 2025Authors:Amybeth Weaver, Bess Wayburn, Carolyn Horton, Grace E. VanNoy, Jennifer Herrera-Mullar, …Journal: Genome MedicineCollaborators: -
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Date: June 26, 2023Authors:Alessandra Terracciano, Alexander Pepler, Alexandra Afenjar, Ana Beleza Meireles, Andrew O M Wilkie, …Journal: American journal of human geneticsJournal Volume: 7Collaborators:
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