Authors: Katsanis, Nicholas Eichers, Erica R. Ansley, Stephan J. Lewis, Richard Alan Kayserili, Hülya Hoskins, Bethan E. Scambler, Peter J. Beales, Philip L. Lupski, James R.

Citation: Katsanis, Nicholas et al., BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance, American journal of human genetics , 71(1), 2002, pp. 22-29

Authors: Keupp, Katharina Beleggia, Filippo Kayserili, Hülya

Citation: Keupp, Katharina et al., Mutations in WNT1 Cause Different Forms of Bone Fragility, American journal of human genetics (Online) AJHG , 92(4), 2013, pp. 565-574

Authors: Beltrán-Valero de Bernabé, Daniel Currier, Sophie Steinbrecher, Alice Celli, Jacopo Beusekom, Ellen, Van Zwaag, Bert, Van: der Kayserili, Hülya Merlini, Luciano Chitayat, David Dobyns, William B. Cormand, Bru Lehesjoki, Ana-Elina Cruces, Jesùs Voit, Thomas Walsh, Christopher A. Bokhoven, Hans, Van Brunner, Han G.

Citation: Beltrán-valero De Bernabé, Daniel et al., Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome, American journal of human genetics , 71(5), 2002, pp. 1033-1043