Publications by authors named "D Goldgar"

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Evidence for pathogenicity of c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.
Setareh Moghadasi, Maria Zanti, Fonnet Bleeker, Marinus Blok, Merel E Braspenning, David Goldgar

J Med Genet· December 2025

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When two plus four does not equal six: Combining computational and functional evidence to classify BRCA1 key domain missense substitutions.
Scott T Pew, Madison B Wiffler, Alun Thomas, Julie L Boyle, Melissa S Cline, David E Goldgar

Am J Hum Genet· September 2025

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Author Correction: Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus.
Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, David E Goldgar

Nat Commun· September 2025

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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification.
Maria Zanti, Denise G O'Mahony, Michael T Parsons, Leila Dorling, Joe Dennis, David E Goldgar

Nat Commun· May 2025

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When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.
Scott T Pew, Madison B Wiffler, Alun Thomas, Julie L Boyle, Melissa S Cline, David E Goldgar

medRxiv· April 2025

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