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Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system

Genetics in Medicine Open
2025 | Journal article
Contributors: Anna Benet-Pagès; Andreas Laner; Luis R. Nassar; Tobias Wohlfrom; Verena Steinke-Lange; Maximilian Haeussler; Elke Holinski-Feder
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Crossref

Variant Interpretation: UCSC Genome Browser Recommended Track Sets

Human Mutation
2022-01-28 | Journal article
Contributors: Anna Benet‐Pagès; Kate R Rosenbloom; Luis R Nassar; Christopher M Lee; Brian J Raney; Hiram Clawson; Daniel Schmelter; Jonathan Casper; Jairo Navarro Gonzalez; Gerardo Perez et al.
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Peer review (1 review for 1 publication/grant)

Review activity for PloS one. (1)