Martin, Christa Lese
https://orcid.org/0000-0002-8071-5780
Mayo Clinic
Autism & Developmental Medicine Institute
Citations 4
Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification
Thaxton, Courtney , Good, Molly, DiStefano, Marina T. , Luo, Xi , Andersen, Erica , Thorland, Erik C., Martin, Christa Lese , Rehm, Heidi L. , Riggs, Erin Rooney , Group, ClinGen Gene Curation Working, Group, ClinGen Dosage Sensitivity Working, Thorland, Erik, Rehm, Heidi L , Riggs, Erin R , Thaxton, Courtney , Berg, Jonathan S. , Group, ClinGen Gene Curation Working, Group, ClinGen Dosage Sensitivity Working
Human Mutation | October 25, 2021 | Volume: 43 | Issue: 8 | Pages: 1031-1040
Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group
Webber, Elizabeth M. , Hunter, Jessica Ezzell , Biesecker, Leslie G. , Buchanan, Adam H. , Clarke, Elizabeth , Currey, Erin , Dagan‐Rosenfeld, Orit, Lindor, Noralane M. , Martin, Christa Lese , Mittendorf, Kathleen F. , Muessig, Kristin R. , Patel, Ronak Y. , Ramos, Erin M. , Rego, Shannon , Sobriera, Nara, Weaver, Meredith , Evans, James P. , Goddard, Katrina A.B. , Resource, on behalf of the ClinGen, Patel, Ronak Y , Lee, Kristy , Milosavljevic, Aleksandar , O’Daniel, Julianne M. , Slavotinek, Anne , Sobreira, Nara Lygia de Macena , Williams, Marc S , Resource, on behalf of the ClinGen
Human Mutation | October 12, 2018 | Volume: 39 | Issue: 11 | Pages: 1677-1685
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Riggs, Erin Rooney , Nelson, Tristan , Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin, Collinson, Morag N., Fan, Yao‐Shan, Goodenberger, McKinsey L. , Golden, Denae M., Haglund‐Hazy, Linda, Krgović, Danijela , Lamb, Allen N., Lewis, Zoe K., Meck, Jeanne, Neufeld‐Kaiser, Whitney, Runke, Cassandra , Sanmann, Jennifer N. , Stavropoulos, Dimitri J. , Strong, Emma, Tayeh, Marwan K. , Vokač, Nadja Kokalj, Thorland, Erik C., Andersen, Erica , Martin, Christa Lese , Riggs, Erin R , Runke, Cassandra K, Stavropoulos, Dimitri J , Goodenberger, McKinsey , Collins, Christin D., Li, Guang , Liu, Yajuan , Su, Meng
Human Mutation | August 10, 2018 | Volume: 39 | Issue: 11 | Pages: 1650-1659
Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting
Riggs, Erin Rooney , Wain, Karen E. , Riethmaier, Darlene, Savage, Melissa, Smith‐Packard, Bethanny, Kaminsky, Erin B., Rehm, Heidi L. , Martin, Christa Lese , Ledbetter, David H. , Faucett, W. Andrew, Rehm, Heidi L
Human Mutation | March 5, 2013 | Volume: 34 | Issue: 6 | Pages: 915-919