Astrid S Plomp
6PUBLICATIONS
66CO-AUTHORS
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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 USH2A 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
