Eloise Uebergang

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 14 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).

Journal: Molecular genetics and metabolism

Published: December 16, 2025

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

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

Journal: Therapeutic advances in rare disease

Published: November 19, 2025

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

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

Journal: Nature genetics

Published: August 18, 2025

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

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

Journal: Nature genetics

Published: August 18, 2025

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

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

Journal: Neurology. Genetics

Published: January 17, 2025

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

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

Journal: medRxiv : the preprint server for health sciences

Published: April 22, 2024

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Journal: Nature

Published: April 07, 2024

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Journal: Molecular genetics and metabolism

Published: March 19, 2024

Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.

Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.

Journal: Orphanet journal of rare diseases

Published: March 11, 2024

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Journal: Orphanet journal of rare diseases

Published: August 09, 2023

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

Journal: European journal of medical genetics

Published: January 23, 2022

Showing 1-12 of 14

Last Updated: 09/26/2026