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Works (4)

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Genetics in Medicine
2022-09 | Journal article
Contributors: Erin Rooney Riggs; Taylor I. Bingaman; Carrie-Ann Barry; Andrea Behlmann; Krista Bluske; Bret Bostwick; Alison Bright; Chun-An Chen; Amanda R. Clause; Avinash V. Dharmadhikari et al.
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Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification

Human Mutation
2022-08 | Journal article
Contributors: Courtney Thaxton; Molly E. Good; Marina T. DiStefano; Xi Luo; Erica F. Andersen; Erik Thorland; Jonathan Berg; Christa Lese Martin; Heidi L. Rehm; Erin R. Riggs
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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Human Mutation
2018-11 | Journal article
Contributors: Erin R. Riggs; Tristan Nelson; Andrew Merz; Todd Ackley; Brian Bunke; Christin D. Collins; Morag N. Collinson; Yao‐Shan Fan; McKinsey L. Goodenberger; Denae M. Golden et al.
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The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria

Human Mutation
2018-11 | Journal article
Contributors: Ingo Helbig; Erin Rooney Riggs; Carrie‐Anne Barry; Karl Martin Klein; David Dyment; Courtney Thaxton; Bekim Sadikovic; Tristan T. Sands; Jacy L. Wagnon; Khalida Liaquat et al.
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Peer review (1 review for 1 publication/grant)

Review activity for Genetics in medicine. (1)