Eric Vilain

15PUBLICATIONS
139CO-AUTHORS
Cancer geneticsDevelopmental genetics (incl. sex determination)Data qualityFairness, accountability, transparency, trust and ethics of computer systemsGene expression (incl. microarray and other genome-wide approaches)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (15)

|Oct 17, 2026
Recurring and isolated intronic FGFR1 variants as an underdiagnosed cause of congenital hypogonadotropic hypogonadism.

|Sep 23, 2026
Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

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

|Feb 12, 2026
Kauro, a graph-based chatbot for high-fidelity information transmission conversations.

Charles Hadley King, Rebekah Barrick, Miguel Almalvez

|Feb 24, 2025
Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia.

Jean Monlong, Xiao Chen, Hayk Barseghyan

|Jan 07, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.

Georgia Pitsava, Megan Hawley, Light Auriga

Pageof 3

Frequent Collaborators

7 joint publications

Emmanuèle Délot

6 joint publications

Seth I Berger

3 joint publications

Changrui Xiao

3 joint publications

Anne O'Donnell-Luria