Carel B Hoyng

5PUBLICATIONS
168CO-AUTHORS
Neurology and neuromuscular diseasesMedical molecular engineering of nucleic acids and proteinsDisease surveillanceNeurogenetics
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Publications (5)

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Apr 12, 2024
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.

Nuria Suárez-Herrera, Catherina H Z Li, Nico Leijsten

|Aug 25, 2021
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.

Esmee H Runhart, Patty Dhooge, Magda Meester-Smoor

|Apr 29, 2021
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

Zeinab Fadaie, Laura Whelan, Adrian Dockery

|Apr 06, 2019
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Sanne K Verbakel, Zeinab Fadaie, B Jeroen Klevering

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Frequent Collaborators

4 joint publications

Frans P M Cremers

3 joint publications

Susanne Roosing

2 joint publications

Jamie M Ellingford

2 joint publications

Alejandro Garanto