Esther Nibbeling

7PUBLICATIONS
95CO-AUTHORS
Cardiology (incl. cardiovascular diseases)Cell and nuclear divisionDevelopmental genetics (incl. sex determination)NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (7)

|Mar 30, 2026
Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL.

Minne N Cerfontaine, Gido Gravesteijn, Remco J Hack

|Jan 02, 2026
COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults.

Dominique Hervé, Saskia A J Lesnik Oberstein, Eva Pipiras

|Oct 20, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Daphne J Smits, Federico Ferraro, Mark Drost

|Sep 27, 2024
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.

Véronique Pingault, Cécilia Neiva-Vaz, Judite de Oliveira

|Jul 26, 2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree

|Apr 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree

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Frequent Collaborators

3 joint publications

Manon Suerink

3 joint publications

Radka Stoeva

2 joint publications

Rajesh Angireddy

2 joint publications

Irene Valenzuela