Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Cornelis, Stephanie S." or (type any "bookEditor journalEditor issueEditor" and editor="C... Add to list Journal Article A1 open access Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics Mubeen Khan, Stephanie S. Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere (UGent) , et al. (2020) GENETICS IN MEDICINE. 22(7). p.1235-1246 Add to list Journal Article A1 open access Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4 Zeinab Fadaie, Mubeen Khan, Marta Del Pozo‐Valero, Stéphanie S. Cornelis, Carmen Ayuso, Frans P. M. Cremers, Susanne Roosing, Rando Allikmets, Miriam Bauwens (UGent) , Mohammad Ghofrani, et al. (2019) HUMAN MUTATION. 40(12). p.2365-2376 Add to list Miscellaneous Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics Mubeen Khan, Stéphanie S. Cornelis, Marta del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTabishi, Elfride De Baere (UGent) , et al. (2019) bioRxiv.