Esther R. Nibbeling

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 28 publications

COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults.

COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults.

Journal: Stroke

Published: January 02, 2026

A Novel APP p.V742L variant in a patient with ischemic small vessel disease enhances FE65 signalling.

A Novel APP p.V742L variant in a patient with ischemic small vessel disease enhances FE65 signalling.

Journal: Neurobiology of disease

Published: October 07, 2025

Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL.

Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL.

Journal: Neurology. Genetics

Published: October 06, 2025

Small Vessel Disease Phenotype Associated With Monoallelic NOTCH3 Loss-of-Function Variants.

Small Vessel Disease Phenotype Associated With Monoallelic NOTCH3 Loss-of-Function Variants.

Journal: Neurology

Published: August 29, 2025

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Journal: European journal of human genetics : EJHG

Published: March 24, 2025

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: July 26, 2024

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Journal: European journal of human genetics : EJHG

Published: April 26, 2024

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: February 03, 2024

Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.

Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.

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

Published: October 18, 2023

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.

Journal: European journal of pediatrics

Published: July 25, 2023

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

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

Published: March 28, 2023

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.

Journal: Brain : a journal of neurology

Published: November 02, 2022

Showing 1-12 of 28

Last Updated: 09/26/2026