Judith Armstrong

Madrid, MD 28029, Spain

Last Updated: 09/26/2026

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Found 64 publications

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

Journal: Genes
Published: March 13, 2026

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Journal: Bioinformatics (Oxford, England)
Published: November 21, 2025

Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.

Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: August 29, 2025

Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome.

Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome.

Journal: Genes
Published: July 17, 2025

Commentary on "Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia".

Commentary on "Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia".

Journal: Parkinsonism & related disorders
Published: February 08, 2025

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.

Journal: Diagnostics (Basel, Switzerland)
Published: October 25, 2024

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Journal: Orphanet journal of rare diseases
Published: October 07, 2024

NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome.

NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome.

Journal: Nucleic acids research
Published: April 29, 2024

Multi-omics in MECP2 duplication syndrome patients and carriers.

Multi-omics in MECP2 duplication syndrome patients and carriers.

Journal: The European journal of neuroscience
Published: January 16, 2024

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

Journal: Orphanet journal of rare diseases
Published: December 12, 2023

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Journal: Human genetics
Published: November 17, 2023

Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.

Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.

Journal: Journal of inherited metabolic disease
Published: August 01, 2023
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Last Updated: 09/26/2026