Khan, Mubeen; Cornelis, Stéphanie S.; Del Pozo Valero, Marta; Whelan, Laura; Runhart, Esmee H.; Mishra, Ketan; Bults, Femke; AlSwaiti, Yahya; AlTalbishi, Alaa; De Baere, Elfride; Banfi, Sandro; Banin, Eyal; Bauwens, Miriam; Ben Yosef, Tamar; Boon, Camiel J. F.; van den Born, L. Ingeborgh; Defoort, Sabine; Devos, Aurore; Dockery, Adrian; Dudakova, Lubica; Fakin, Ana; Farrar, G. Jane; Ferraz Sallum, Juliana Maria; Fujinami, Kaoru; Gilissen, Christian; Glavac, Damjan; Gorin, Michael B.; Greenberg, Jacquie; Hayashi, Takaaki; Hettinga, Ymkje M.; Hoischen, Alexander; Hoyng, Carel B.; Hufendiek, Karsten; Jägle, Herbert; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Kousal, Bohdan; Lamey, Tina M.; MacDonald, Ian M.; Matynia, Anna; McLaren, Terri L.; Mena, Marcela D.; Meunier, Isabelle; Miller, Rianne; Newman, Hadas; Ntozini, Buhle; Oldak, Monika; Pieterse, Marc; Podhajcer, Osvaldo Luis; Puech, Bernard; Ramesar, Raj; Rüther, Klaus; Salameh, Manar; Salles, Mariana Vallim; Sharon, Dror; Simonelli, Francesca; Spital, Georg; Steehouwer, Marloes; Szaflik, Jacek P.; Thompson, Jennifer A.; Thuillier, Caroline; Tracewska, Anna M.; van Zweeden, Martine; Vincent, Andrea L.; Zanlonghi, Xavier; Liskova, Petra; Stöhr, Heidi; De Roach, John N.; Ayuso, Carmen; Roberts, Lisa; Weber, Bernhard H. F.; Dhaenens, Claire Marie; Cremers, Frans P. M. (Lippincott Williams, 2020-07)
Purpose: Missing heritability in human diseases represents a major challenge, and this is particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate the genomic and transcriptomic variation in ...
