Riggs, Erin R
Mayo Clinic
Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
Citations 2
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
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