Ester Ezra-Kalef
UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 15 publications
Scalable and comprehensive mosaic variant calling using DRAGEN.
Journal: medRxiv : the preprint server for health sciences
Published: February 12, 2026
Oligodendroglial somatic SNCA copy number gains are associated with inclusions and disease onset in multiple system atrophy.
Journal: Acta neuropathologica
Published: January 26, 2026
Dysregulation of sphingolipid-metabolizing enzymes in Friedreich's ataxia: In vitro and in vivo insights into therapeutic targeting.
Journal: iScience
Published: March 11, 2025
Single cell long read whole genome sequencing reveals somatic transposon activity in human brain.
Journal: Communications biology
Published: December 16, 2024
Single cell long read whole genome sequencing reveals somatic transposon activity in human brain.
Journal: medRxiv : the preprint server for health sciences
Published: November 28, 2024
Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich's ataxia models.
Journal: Cell reports. Medicine
Published: November 11, 2024
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2.
Journal: Nature biotechnology
Published: January 22, 2024
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.
Journal: Communications biology
Published: November 30, 2023
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.
Journal: bioRxiv : the preprint server for biology
Published: August 23, 2023
A new FRDA mouse model [Fxn null:YG8s(GAA) > 800] with more than 800 GAA repeats.
Journal: Frontiers in neuroscience
Published: April 27, 2022
Detection of mosaic and population-level structural variants with Sniffles2.
Journal: Nature biotechnology
Published: April 04, 2022
HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia.
Journal: Frontiers in genetics
Published: December 03, 2019
Last Updated: 09/26/2026