Clarissa J. Rocca

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 41 publications

Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice.

Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 10, 2025

Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study.

Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study.

Journal: Stroke

Published: January 27, 2025

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Journal: Genes

Published: December 15, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Journal: medRxiv : the preprint server for health sciences

Published: August 16, 2024

A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 13, 2024

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

Journal: Nature communications

Published: July 14, 2024

Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS).

Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS).

Journal: F1000Research

Published: February 26, 2024

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 07, 2023

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Journal: European journal of human genetics : EJHG

Published: November 17, 2023

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 03, 2023

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

Journal: Genome medicine

Published: September 19, 2023

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 31, 2023

Showing 1-12 of 41

Last Updated: 09/26/2026