Genetics in Medicine Open (Jan 2025)
19: Dosage Sensitivity Curation of Recurrent CNVs: A Novel Scoring Metric to Assist Clinical CNV Interpretation
- John Herriges,
- Zoe K. Lewis,
- Bradley Coe,
- Cassandra K. Runke,
- Rachel D. Burnside,
- Laura K. Conlin,
- Benjamin A. Hilton,
- Nicole Hoppman,
- Vaidehi Jobanputra,
- Brynn Levy,
- Lucilla Pizzo,
- Erin Rooney Riggs,
- Andrea K. Vaags,
- Shulin Zhang,
- Christa Lese Martin,
- Erica F. Andersen
Affiliations
- John Herriges
- Children's Mercy Hospital, Kansas City, MO
- Zoe K. Lewis
- ARUP Laboratories, University of Utah, Salt Lake City, UT
- Bradley Coe
- BC Children's & BC Women's Hospitals, Vancouver, BC
- Cassandra K. Runke
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
- Rachel D. Burnside
- Department of Pathology, Immunology, and Laboratory Medicine, University of Florida, Gainesville, FL
- Laura K. Conlin
- Children's Hospital of Philadelphia, PA
- Benjamin A. Hilton
- Greenwood Genetic Center, Greenwood, SC
- Nicole Hoppman
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
- Vaidehi Jobanputra
- New York Genome Center, New York, NY; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY
- Brynn Levy
- Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY
- Lucilla Pizzo
- ARUP Laboratories, University of Utah, Salt Lake City, UT
- Erin Rooney Riggs
- College of Health Sciences, Geisinger, Danville, PA
- Andrea K. Vaags
- Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON
- Shulin Zhang
- Department of Pathology and Laboratory Medicine, UKHC, University of Kentucky, Lexington, KY
- Christa Lese Martin
- College of Health Sciences, Geisinger, Danville, PA
- Erica F. Andersen
- ARUP Laboratories, University of Utah, Salt Lake City, UT
- Journal volume & issue
-
Vol. 3
p. 101936