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Luo, Xi

https://orcid.org/0000-0002-1941-2318

A5101525273 | I181547552

Mayo Clinic

Baylor College of Medicine

Citations 2

Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

Human Mutation | October 25, 2021 | Volume: 43 | Issue: 8 | Pages: 1031-1040

10.1002/humu.24291 | PMID 34694049

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Blood Advances | October 16, 2019 | Volume: 3 | Issue: 20 | Pages: 2962-2979

10.1182/bloodadvances.2019000644 | PMID 31648317

Key Points The ClinGen MM-VCEP has specified RUNX1-specific curation rules to address gene function, gene-specific domains, and phenotypic criteria. RUNX1-specific criteria resulted in a reduction in CONF and VUS variants by 33%, emphasizing the need for expert variant curation.