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Astrid S Plomp

6PUBLICATIONS

66CO-AUTHORS

Autonomic nervous systemMedical infection agents (incl. prions)Vision scienceEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases

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Publications (6)

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|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

|Jul 02, 2021

Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

Janine Reurink, Adrian Dockery, Dominika Oziębło

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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

1 joint publications

M J Blok

1 joint publications

Janine Reurink

1 joint publications

Adrian Dockery

1 joint publications

Dominika Oziębło

1 joint publications

G Jane Farrar

1 joint publications

Monika Ołdak

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

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