Julie Vogt

Birmingham, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 59 publications

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Journal: Genome medicine

Published: November 04, 2025

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.

Journal: The Journal of clinical investigation

Published: June 10, 2025

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2025

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Journal: European journal of human genetics : EJHG

Published: March 04, 2025

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.

Journal: European journal of human genetics : EJHG

Published: November 26, 2024

Corrigendum to "Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene" Neuromuscular Disorders 39 (2024) 5-9.

Corrigendum to "Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene" Neuromuscular Disorders 39 (2024) 5-9.

Journal: Neuromuscular disorders : NMD

Published: May 27, 2024

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

Journal: Brain communications

Published: March 12, 2024

Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.

Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.

Journal: Neuromuscular disorders : NMD

Published: March 08, 2024

Clinical and functional consequences of GRIA variants in patients with neurological diseases.

Clinical and functional consequences of GRIA variants in patients with neurological diseases.

Journal: Cellular and molecular life sciences : CMLS

Published: May 10, 2023

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Journal: American journal of human genetics

Published: March 13, 2023

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

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

Published: February 05, 2023

Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.

Journal: HGG advances

Published: December 30, 2022

Showing 1-12 of 59

Last Updated: 09/26/2026