Lisenka M. Vissers

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

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Found 167 publications

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Journal: The New England journal of medicine

Published: June 15, 2026

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

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

Published: March 27, 2026

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Journal: European journal of human genetics : EJHG

Published: March 16, 2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

Journal: European journal of human genetics : EJHG

Published: February 16, 2026

Near-perfect genome sequencing in medical genetics.

Near-perfect genome sequencing in medical genetics.

Journal: Nature genetics

Published: February 04, 2026

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

Journal: American journal of human genetics

Published: December 22, 2025

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.

Journal: American journal of human genetics

Published: October 13, 2025

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Complexome profiling showed impaired immunoproteasome assembly in a novel PRAAS subtype caused by monoallelic PSMB8 variants.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

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

Short Communication: True Cost Accounting (TCA) as a transformative approach for livestock agri-food systems.

Short Communication: True Cost Accounting (TCA) as a transformative approach for livestock agri-food systems.

Journal: Animal : an international journal of animal bioscience

Published: December 18, 2024

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.

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

Published: December 17, 2024

Showing 1-12 of 167

Last Updated: 09/26/2026