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Martin, Christa Lese

https://orcid.org/0000-0002-8071-5780

A5088638156 | I4210098008

Mayo Clinic

Autism & Developmental Medicine Institute

Citations 4

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

Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group

Human Mutation | October 12, 2018 | Volume: 39 | Issue: 11 | Pages: 1677-1685

10.1002/humu.23631 | PMID 30311382

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Human Mutation | August 10, 2018 | Volume: 39 | Issue: 11 | Pages: 1650-1659

10.1002/humu.23610 | PMID 30095202

Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting

Human Mutation | March 5, 2013 | Volume: 34 | Issue: 6 | Pages: 915-919

10.1002/humu.22306 | PMID 23463607