Frans P M Cremers
17PUBLICATIONS
203CO-AUTHORS
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Publications (17)
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|Apr 14, 2025
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.Stéphanie S Cornelis, Miriam Bauwens, Lonneke Haer-Wigman
|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
|Feb 13, 2025
Improving personalised genetic counselling for -associated retinopathy: Updated recurrence risk estimates.Stéphanie S Cornelis, Frans P M Cremers
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Aug 16, 2023
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.Melita Kaltak, Rocio Blanco-Garavito, Laurie L Molday
|Nov 11, 2022
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.Janine Reurink, Jaap Oostrik, Marco Aben
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Frequent Collaborators
9 joint publications
Susanne Roosing
6 joint publications
Hannie Kremer
5 joint publications
Suzanne E de Bruijn
4 joint publications
Carel B Hoyng
3 joint publications
Ronald J E Pennings
3 joint publications
L Ingeborgh van den Born
3 joint publications
Gwyneth Jane Farrar
3 joint publications
Stéphanie S Cornelis
3 joint publications
Monika Ołdak
3 joint publications
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