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Ross, Justyne

https://orcid.org/0000-0002-7437-8060

A5000510247 | I114027177

Mayo Clinic

University of North Carolina at Chapel Hill

Citations 2

Clinical testing panels for ALS: global distribution, consistency, and challenges

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration | March 10, 2023 | Volume: 24 | Issue: 5-6 | Pages: 420-435

10.1080/21678421.2023.2173015 | PMID 36896705

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.