van der Ven, A., Kobbe, B., Kohl, S., Shril, S., Pogoda, H., Imhof, T., … Hildebrandt, F. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PloS One, 13(1), e0191224. https://doi.org/10.1371/journal.pone.0191224 (Original work published 2018)

Sumaroka, A., Garafalo, A., Cideciyan, A., Charng, J., Roman, A., Choi, W., … Jacobson, S. (2018). Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations. Investigative Ophthalmology & Visual Science, 59(15), 5762-5772. https://doi.org/10.1167/iovs.18-25280 (Original work published 2018)