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Mehta, Nikita

https://orcid.org/0000-0003-1465-2934

A5048671907 | I1334819555

Mayo Clinic

Memorial Sloan Kettering Cancer Center

Citations 4

Dissecting the Knowns for the Unknowns: Refining the Classification of Genomic Variations in Hematological Diseases By the Clingen Hematological Cancer Taskforce (HCT)

Blood | November 29, 2022 | Volume: 140 | Issue: Supplement 1 | Pages: 11810-11811

10.1182/blood-2022-170989

Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State

Hemoglobin | June 18, 2020 | Volume: 44 | Issue: 3 | Pages: 174-178

10.1080/03630269.2020.1776322 | PMID 32552204

Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing

Clinical Chemistry | January 6, 2020 | Volume: 66 | Issue: 1 | Pages: 48-51

10.1093/clinchem.2019.304451 | PMID 32609848

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.