Article

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2020

Khan Mubeen, Cornelis Stéphanie S, Pozo-Valero Marta Del, 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, Sallum Juliana Maria Ferraz, Fujinami Kaoru, Gilissen Christian, Glavač 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 L, 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, Roach John N De, Ayuso Carmen, Roberts Lisa, Weber Bernhard H F, Dhaenens Claire-Marie, Cremers Frans P M