Items where Author is "Defoort, Sabine"

Article

Khan, Mubeen and Cornelis, Stephanie S. and Del Pozo-Valero, Marta and Whelan, Laura and Runhart, Esmee H. and Mishra, Ketan and Bults, Femke and AlSwaiti, Yahya and AlTalbishi, Alaa and De Baere, Elfride and Banfi, Sandro and Banin, Eyal and Bauwens, Miriam and Ben-Yosef, Tamar and Boon, Camiel J. F. and van den Born, L. Ingeborgh and Defoort, Sabine and Devos, Aurore and Dockery, Adrian and Dudakova, Lubica and Fakin, Ana and Farrar, G. Jane and Sallum, Juliana Maria Ferraz and Fujinami, Kaoru and Gilissen, Christian and Glavac, Damjan and Gorin, Michael B. and Greenberg, Jacquie and Hayashi, Takaaki and Hettinga, Ymkje M. and Hoischen, Alexander and Hoyng, Carel B. and Hufendiek, Karsten and Jaegle, Herbert and Kamakari, Smaragda and Karali, Marianthi and Kellner, Ulrich and Klaver, Caroline C. W. and Kousal, Bohdan and Lamey, Tina M. and MacDonald, Ian M. and Matynia, Anna and McLaren, Terri L. and Mena, Marcela D. and Meunier, Isabelle and Miller, Rianne and Newman, Hadas and Ntozini, Buhle and Oldak, Monika and Pieterse, Marc and Podhajcer, Osvaldo L. and Puech, Bernard and Ramesar, Raj and Ruether, Klaus and Salameh, Manar and Salles, Mariana Vallim and Sharon, Dror and Simonelli, Francesca and Spital, Georg and Steehouwer, Marloes and Szaflik, Jacek P. and Thompson, Jennifer A. and Thuillier, Caroline and Tracewska, Anna M. and van Zweeden, Martine and Vincent, Andrea L. and Zanlonghi, Xavier and Liskova, Petra and Stoehr, Heidi and Roach, John N. De and Ayuso, Carmen and Roberts, Lisa and Weber, Bernhard H. F. and Dhaenens, Claire-Marie and Cremers, Frans P. M. (2020) Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. GENETICS IN MEDICINE, 22 (7). pp. 1235-1246. ISSN 1098-3600, 1530-0366

Khan, Mubeen and Cornelis, Stephanie S. and Khan, Muhammad Imran and Elmelik, Duaa and Manders, Eline and Bakker, Sem and Derks, Ronny and Neveling, Kornelia and van DeVorst, Maartje and Gilissen, Christian and Meunier, Isabelle and Defoort, Sabine and Puech, Bernard and Devos, Aurore and Schulz, Heidi L. and Stoehr, Heidi and Grassmann, Felix and Weber, Bernhard H. F. and Dhaenens, Claire-Marie and Cremers, Frans P. M. (2019) Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease. HUMAN MUTATION, 40 (10). pp. 1749-1759. ISSN 1059-7794, 1098-1004

Other

Khan, Mubeen and Cornelis, Stephanie and Valero, Marta del Pozo and Khan, Muhammad Imran and Stoehr, Heidi and Grassmann, Felix and Steehouwer, Marloes and Hoischen, Alexander and Ayuso, Carmen and Ramesar, Raj and Meunier, Isabelle Anne and Defoort, Sabine and Weber, Bernhard H. F. and Dhaenens, Claire-Marie and Cremers, Frans P. (2019) Towards comprehensive identification and functional characterization of deep-intronic ABCA4 variants in 1000 Stargardt disease cases. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, ROCKVILLE.