Search Results - "Durda, Kate M."

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance by Richardson, Marcy E., Hu, Chunling, Lee, Kun Y., LaDuca, Holly, Fulk, Kelly, Durda, Kate M., Deckman, Ashley M., Goldgar, David E., Monteiro, Alvaro N.A., Gnanaolivu, Rohan, Hart, Steven N., Polley, Eric C., Chao, Elizabeth, Pesaran, Tina, Couch, Fergus J.

“…Determination of the clinical relevance of rare germline variants of uncertain significance (VUSs) in the BRCA2 cancer predisposition gene remains a challenge…”
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Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes by Leslie, Elizabeth J., Mancuso, Jennifer L., Schutte, Brian C., Cooper, Margaret E., Durda, Kate M., L'Heureux, Jamie, Zucchero, Theresa M., Marazita, Mary L., Murray, Jeffrey C.

“…ABSTRACT Van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for 1–2% of all patients with cleft lip and/or cleft…”
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