Gabriela E. Jones

Nottingham, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 25 publications

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long-Read Transcriptomics.

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long-Read Transcriptomics.

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

Published: March 30, 2026

New pathogenic PTPN2 variant leading to childhood interstitial lung disease.

New pathogenic PTPN2 variant leading to childhood interstitial lung disease.

Journal: Thorax

Published: January 16, 2026

Teaching NeuroImage: Cortical DWI Hyperintensity, Cerebellar Atrophy, and Presentation With Prolonged Postictal Hemiparesis Suggest CACNA1A-Related Disorder.

Teaching NeuroImage: Cortical DWI Hyperintensity, Cerebellar Atrophy, and Presentation With Prolonged Postictal Hemiparesis Suggest CACNA1A-Related Disorder.

Journal: Neurology

Published: June 23, 2025

Expanding the clinical spectrum of NHP2 -related dyskeratosis congenita: a case with novel phenotypic features.

Expanding the clinical spectrum of NHP2 -related dyskeratosis congenita: a case with novel phenotypic features.

Journal: Clinical dysmorphology

Published: March 12, 2025

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Journal: Genetics in medicine open

Published: November 14, 2023

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

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

Published: July 30, 2023

Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.

Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.

Journal: The British journal of dermatology

Published: May 23, 2023

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.

Journal: Clinical dysmorphology

Published: March 06, 2023

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.

Journal: JHEP reports : innovation in hepatology

Published: January 31, 2023

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome.

Journal: European journal of medical genetics

Published: February 11, 2022

Estimating the clinical prevalence of Wilson's disease in the UK.

Estimating the clinical prevalence of Wilson's disease in the UK.

Journal: JHEP reports : innovation in hepatology

Published: March 23, 2021

Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.

Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.

Journal: Journal of medical genetics

Published: February 08, 2021

Showing 1-12 of 25

Last Updated: 09/26/2026