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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:Silvana Lobo, Alexandre Dias, Ana Maria Pedro, Marta Ferreira, 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:Sharon E Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou, Maria Zanti, …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:Jennifer Herrera-Mullar, Carolyn Horton, Amybeth Weaver, Meghan C. Towne, Jennifer M. Huang, …Journal: Genome MedicineCollaborators: -
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Date: June 26, 2023Authors:Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Sarah Smithson, …Journal: American journal of human geneticsJournal Volume: 7Collaborators:
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