Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, Weisschuh N. Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation. European Journal of Human Genetics. 2015 Jul 08;24(3):459–62. doi: 10.1038/ejhg.2015.144.