Astrid S Plomp

7PUBLICATIONS
71CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Autonomic nervous systemMedical infection agents (incl. prions)Vision scienceEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|Sep 16, 2026
The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum.

|Aug 18, 2025
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.

Yousra El Ghaleb, Monica L Fernández-Quintero, Marta Campiglio

|May 28, 2024
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.

Kae R Whiting, Lonneke Haer-Wigman, Ralph J Florijn

|Apr 28, 2023
Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.

Xuan-Thanh-An Nguyen, Lude Moekotte, Astrid S Plomp

|Mar 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Maria Solaki, Britta Baumann, Peggy Reuter

|Nov 16, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.

R Koster, R D Brandão, D Tserpelis

Pageof 2

Frequent Collaborators

1 joint publications

R Koster

1 joint publications

R D Brandão

1 joint publications

K B M Claes

1 joint publications

A D C Paulussen