Susanne Roosing
23PUBLICATIONS
238CO-AUTHORS
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Publications (23)
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|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Sep 27, 2025
Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.Daan M Panneman, Erica G M Boonen, Zelia Corradi
|Jul 29, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.Sofia Kulyamzin, Rina Leibu, Hadas Newman
|Mar 04, 2025
Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.Merel Stemerdink, Tabea Riepe, Nick Zomer
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Nov 27, 2024
A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa.Maria Abu Elasal, Samer Khateb, Daan M Panneman
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Frequent Collaborators
9 joint publications
Frans P M Cremers
6 joint publications
Hannie Kremer
5 joint publications
Janine Reurink
5 joint publications
Monika Ołdak
5 joint publications
Laura Whelan
5 joint publications
Dror Sharon
5 joint publications
Christian Gilissen
4 joint publications
Zeinab Fadaie
4 joint publications
Suzanne E de Bruijn
4 joint publications
Carmen Ayuso
