Jana Vandrovcova

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 90 publications

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function Variant.

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function Variant.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 27, 2026

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine

Published: June 19, 2025

Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.

Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: April 07, 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

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.

Journal: Nature genetics

Published: November 23, 2024

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

Journal: European journal of human genetics : EJHG

Published: October 16, 2024

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Journal: Brain communications

Published: September 11, 2024

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations.

Journal: Annals of clinical and translational neurology

Published: May 22, 2024

Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

Journal: Brain communications

Published: April 09, 2024

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Journal: Brain : a journal of neurology

Published: January 28, 2024

POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.

POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.

Journal: Annals of clinical and translational neurology

Published: January 06, 2024

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

Showing 1-12 of 90

Last Updated: 09/26/2026