Kate M. Durda

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

F. Couch, E. Polley, A. Monteiro, 2021, American journal of human genetics.

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

R. Pilarski, H. LaDuca, E. Chao, 2022, npj Genomic Medicine.

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer

R. Pilarski, H. LaDuca, E. Chao, 2022, NPJ genomic medicine.

Search for genetic modifiers of IRF6 and genotype–phenotype correlations in Van der Woude and popliteal pterygium syndromes

M. Marazita, B. Schutte, E. Leslie, 2013, American journal of medical genetics. Part A.

Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield

H. LaDuca, K. Jasperson, T. Else, 2022, The Journal of clinical endocrinology and metabolism.

Search for genetic modifiers of IRF6 and genotype–phenotype correlations in Van der Woude and popliteal pterygium syndromes

M. Marazita, B. Schutte, E. Leslie, 2013, American journal of medical genetics. Part A.

Diagnostic Outcomes of Concurrent DNA and RNA Sequencing in Individuals Undergoing Hereditary Cancer Testing

H. LaDuca, R. Karam, H. Zimmermann, 2023, JAMA oncology.