Dale Bryant, Yang Liu, Sanchari Datta, Hanaa Hariri, Glenn Anderson, Emma Peskett, Charalambos Demetriou, Marian Seda, Dagan Jenkins, Sergio Sousa, Peter Clayton, Maria Bitner-Glindzicz, Gudrun Moore, Mike Henne, Philip Stanier (2018). SNX14 mutations affect cholesterol metabolism at the endoplasmic reticulum in SCAR20. Human Molecular Genetics. 27:1927–1940