Stéphanie S Cornelis

Years Active: 2019-2020
Publications (10 Years): 3

This page only lists publications with an associated author ORCID identifier.

Publications

Mubeen Khan, Stéphanie S Cornelis, Riccardo Sangermano, Iris J M Post, Amber Janssen Groesbeek, Jan Amsu, Christian Gilissen, Alejandro Garanto, Rob W J Collin, Frans P M Cremers
In or Out? New Insights on Exon Recognition through Splice-Site Interdependency. International journal of molecular sciences 21 (7) (2020)
Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero, Stéphanie S Cornelis, Carmen Ayuso, Frans P M Cremers, Susanne Roosing, null The Abca Study Group
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. Human mutation 40 (12) (2019)
Mubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, Duaa Elmelik, Eline Manders, Sem Bakker, Ronny Derks, Kornelia Neveling, Maartje van de Vorst, Christian Gilissen, Isabelle Meunier, Sabine Defoort, Bernard Puech, Aurore Devos, Heidi L Schulz, Heidi Stöhr, Felix Grassmann, Bernhard H F Weber, Claire-Marie Dhaenens, Frans P M Cremers
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease. Human mutation 40 (10) (2019)

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