Eloise Uebergang

7PUBLICATIONS
128CO-AUTHORS
Gene mappingNeurogeneticsGenetic immunologyNeurology and neuromuscular diseasesMulticultural, intercultural and cross-cultural studies
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|Aug 28, 2026
Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Sep 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.

Carlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan

|Jul 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Apr 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim

|Jun 29, 2021
Understanding genomic health information: how to meet the needs of the culturally and linguistically diverse community-a mixed methods study.

Eloise Uebergang, Stephanie Best, Michelle G de Silva

Pageof 2

Frequent Collaborators

5 joint publications

Rocio Rius

5 joint publications

Cas Simons

4 joint publications

Christel Depienne

4 joint publications

Jonathan A Bernstein