Stephanie DiTroia

7PUBLICATIONS
92CO-AUTHORS
Data qualityGene mappingNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|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

|Jan 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

Yoel Gofin, Tianyun Wang, Madelyn A Gillentine

Pageof 2

Frequent Collaborators

3 joint publications

Evan E Eichler

3 joint publications

Anne O'Donnell-Luria

2 joint publications

Stephen B Montgomery

2 joint publications

Seth I Berger