Judit Horvath

Muenster, NW, Germany

Last Updated: 09/26/2026

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Found 68 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Frontal subcortical executive dysfunction and minor hallucinations in Parkinson's disease are linked to sensitivity to somatomotor conflicts.

Frontal subcortical executive dysfunction and minor hallucinations in Parkinson's disease are linked to sensitivity to somatomotor conflicts.

Journal: Journal of Parkinson's disease

Published: May 06, 2026

Detection of Copy-Number Variations in CNS Tumours From Off-Target Reads of Hybrid-Capture Sequencing.

Detection of Copy-Number Variations in CNS Tumours From Off-Target Reads of Hybrid-Capture Sequencing.

Journal: Neuropathology and applied neurobiology

Published: November 19, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

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

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

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

Published: October 01, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.

Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.

Journal: Frontiers in medicine

Published: July 03, 2025

Atypical Hemolytic Uremic Syndrome/Complement-Mediated Thrombotic Microangiopathy Triggered by SARS-CoV-2 Infection: A Case Report.

Atypical Hemolytic Uremic Syndrome/Complement-Mediated Thrombotic Microangiopathy Triggered by SARS-CoV-2 Infection: A Case Report.

Journal: Case reports in nephrology and dialysis

Published: January 05, 2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Journal: American journal of human genetics

Published: September 13, 2024

Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

Journal: Journal of the National Cancer Institute

Published: August 05, 2024

Calculating Future 10-Year Breast Cancer Risks in Risk-Adapted Surveillance: A Method Comparison and Application in Clinical Practice.

Calculating Future 10-Year Breast Cancer Risks in Risk-Adapted Surveillance: A Method Comparison and Application in Clinical Practice.

Journal: Cancer prevention research (Philadelphia, Pa.)

Published: July 19, 2024

Showing 1-12 of 68

Last Updated: 09/26/2026