Bauwens, Miriam https://orcid.org/0000-0002-5609-6895
Garanto, Alejandro
Sangermano, Riccardo
Naessens, Sarah
Weisschuh, Nicole
De Zaeytijd, Julie
Khan, Mubeen
Sadler, Françoise
Balikova, Irina
Van Cauwenbergh, Caroline
Rosseel, Toon
Bauwens, Jim
De Leeneer, Kim
De Jaegere, Sarah
Van Laethem, Thalia
De Vries, Meindert
Carss, Keren
Arno, Gavin
Fakin, Ana
Webster, Andrew R.
de Ravel de l’Argentière, Thomy J.L.
Sznajer, Yves
Vuylsteke, Marnik
Kohl, Susanne
Wissinger, Bernd
Cherry, Timothy
Collin, Rob W.J.
Cremers, Frans P.M.
Leroy, Bart P.
De Baere, Elfride
This article is maintained by: Elsevier
Article Title: ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-018-0420-y
Content Type: article
Copyright: © 2019, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics