1. De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. (24th May 2014) Authors: Roifman, M.; Marcelis, C.L.M.; Paton, T.; Marshall, C.; Silver, R.; Lohr, J.L.; Yntema, H.G.; Venselaar, H.; Kayserili, H.; van Bon, B.; Seaward, G.; FORGE Canada Consortium; Brunner, H.G.; Chitayat, D. Journal: Clinical genetics Issue: Volume 87:Number 1(2015:Jan.) Page Start: 34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy. Issue 2 (8th June 2018) Authors: Wesdorp, M.; Schreur, V.; Beynon, A.J.; Oostrik, J.; van de Kamp, J.M.; Elting, M.W.; van den Boogaard, M.‐J.H.; Feenstra, I.; Admiraal, R.J.C.; Kunst, H.P.M.; Hoyng, C.B.; Kremer, H.; Yntema, H.G.; Pennings, R.J.E.; Schraders, M. Journal: Clinical genetics Issue: Volume 94:Issue 2(2018) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗