Stéphanie S Cornelis
5PUBLICATIONS
15CO-AUTHORS
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Publications (5)
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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
|Feb 13, 2025
Improving personalised genetic counselling for -associated retinopathy: Updated recurrence risk estimates.Stéphanie S Cornelis, Frans P M Cremers
|Apr 01, 2020
In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.Mubeen Khan, Stéphanie S Cornelis, Riccardo Sangermano
|Aug 10, 2019
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero
|Jun 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.Mubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan
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Frequent Collaborators
3 joint publications
Frans P M Cremers
2 joint publications
Mubeen Khan
1 joint publications
Zeinab Fadaie
1 joint publications
Marta Del Pozo-Valero
1 joint publications
Carmen Ayuso
1 joint publications
Susanne Roosing
1 joint publications
Alejandro Garanto
1 joint publications
Rob W J Collin
1 joint publications
Miriam Bauwens
1 joint publications
Lonneke Haer-Wigman
