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European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder

Deliverables

Publications

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

Author(s): Sabrina Mechaussier, Basamat Almoallem, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Jo Van Dorpe, Alfredo Dueñas Rey, Christel Condroyer, Olivier Pelle, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Mara Cavallin, Jean-Louis Bacquet, Alexandra Mouallem-Bézière, Olivia Zambrowski, José Alain Sahel, Isabelle Audo, Josseline Kaplan, Jean-Michel Rozet, Elfride De Baere, Isabelle Perr
Published in: The American Journal of Human Genetics, Issue 106/6, 2020, Page(s) 859-871, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2020.04.018

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

Author(s): Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo-Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben-Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Lubica Dudakova, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru
Published in: Genetics in Medicine, 2020, ISSN 1098-3600
DOI: 10.1038/s41436-020-0787-4