Title: Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
Authors: Mubeen Khan, Stéphanie S. Cornelis, Marta del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Alaa AlTabishi, Yahya AlSweiti, Elfride de Baere, Sandro Banfi, Miriam Bauwens, Camiel J.F. Boon, Femke Bults, Eyal Banin, L. Ingeborgh van den Born, Aurore Devos, Adrian Dockery, Anna Fakin, Jane G. Farrar, Kaoru Fujinami,, Christian Gilissen, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Carel B. Hoyng, Ymkje Hettinga, Smaragda Kamakari, Caroline C.W. Klaver, Tina Lamey, Bohdan Kousal, Lubica Dudakova, Terri McLaren, Jennifer A. Thompson, Marcela D. Mena, Ian M. MacDonald, Anna Matynia, Rianne Miller, Hadas Newman, Monika Oldak, Osvaldo L. Podhajcer, Marc Pieterse, Raj Ramesar, Manar Salameh, Juliana Maria Ferraz Sallum, Dror Sharon, Francesca Simonelli, Jacek P. Szalik, Francesco Testa, Caroline Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea Vincent, Tamar Ben Yosef, Petra Liskova, Heidi Stöhr, John De Roach, Carmen Ayuso, Lisa Roberts, Bernard H.F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers.
Journal: Genetics in Medicine
Publication type: article
DOI: 10.1038/s41436-020-0787-4