Elizabeth Chao

5PUBLICATIONS
66CO-AUTHORS
Neurology and neuromuscular diseasesCancer geneticsClinical chemistry (incl. diagnostics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (5)

|Apr 01, 2025
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.

Anton Safonov, Tomoki T Nomakuchi, Elizabeth Chao

|Apr 02, 2024
Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.

Colin C Young, Carolyn Horton, Jessica Grzybowski

|May 30, 2023
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

Chunling Hu, Anil Belur Nagaraj, Hermela Shimelis

|Mar 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Steven M Harrison, Jill S Dolinsky, Amy E Knight Johnson

|Aug 12, 2016
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske

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Frequent Collaborators

3 joint publications

Marcy Richardson

2 joint publications

Jeffrey Weitzel

2 joint publications

Carrie Horton

2 joint publications

Rachid Karam