Stephanie DiTroia

8PUBLICATIONS
93CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Data qualityGene mappingNeurogeneticsNeurology and neuromuscular diseases
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Publications (8)

|Sep 24, 2026
Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease.

|Jun 04, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

|Apr 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.

|Nov 08, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

Riccardo Sangermano, Priya Gupta, Cherrell Price

|Feb 19, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.

Jessica X Chong, Seth I Berger, Samantha Baxter

|Jul 03, 2023
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.

Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh

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Frequent Collaborators

4 joint publications

Anne O'Donnell-Luria

3 joint publications

Evan E Eichler

3 joint publications

Heidi L Rehm

2 joint publications

Melanie O'Leary