Jansen, Sandra, Hoischen, Alexander, Van Bon, Bregje W., Claahsen-Van Der Grinten, Hedi L., Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J., Coe, Bradley P., Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H., Pfundt, Rolph, Steehouwer, Marlos, Stevens, Servi J.C., Stumpel, Connie T., Vansenne, Fleur, Carvill, Gemma L., Vinci, Mirella, Van De Vorst, Maartje, Vries, Petra D., Witherspoon, Kali, Veltman, Joris A., Brunner, Han G., Mefford, Heather C., Romano, Corrado, Vissers, Lisenka E.L.M., Eichler, Evan E., Van Esch, Hilde, De Vries, Bert B.A., Bosch, Danielle G.M., Andersen, Ulla A., Baker, Carl, Bauters, Marijke, Bernier, Raphael A.. Nature Publishing Group; 2018. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

De Jonge, Christopher K., Barratt, Christopher L. R., Kimmins, Sarah, Krausz, Csilla, McLachlan, Robert I., Niederberger, Craig, O'Bryan, Moira K., Pacey, Allan, Priskorn, Lærke, Rautakallio-Hokkanen, Satu, Serour, Gamal, Veltman, Joris A., Aitken, R. John, Vogel, DL, Vazquez-Levin, MH, Anderson, Richard A., Baker, Peter, Chan, David Y. L., Connolly, Mark P., Eisenberg, Michael L., Garrido, Nicolas, Jørgensen, Niels. Oxford University Press; 2024. Current global status of male reproductive health.