Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
American journal of human genetics
Authors:
Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, Hellen Lesmann, Aron Kirchhoff, David Geneviève, Elise Brimble, Lisa Lenaerts, Dorien Haesen, Rebecca J Levy, Julien Thevenon, Laurence Faivre, Elysa Marco, Jessica X Chong, Mike Bamshad, Karynne Patterson, Ghayda M Mirzaa, Kimberly Foss, William Dobyns, Susan M White, Lynn Pais, Emily O'Heir, Raphaela Itzikowitz, Kirsten A Donald, Celia Van der Merwe, Alessandro Mussa, Raffaela Cervini, Elisa Giorgio, Tony Roscioli, Kerith-Rae Dias, Carey-Anne Evans, Natasha J Brown, Anna Ruiz, Juan Pablo Trujillo Quintero, Rachel Rabin, John Pappas, Hai Yuan, Katherine Lachlan, Simon Thomas, Anita Devlin, Michael Wright, Richard Martin, Joanna Karwowska, Renata Posmyk, Nicolas Chatron, Zornitza Stark, Oliver Heath, Martin Delatycki, Rebecca Buchert, Georg-Christoph Korenke, Keri Ramsey, Vinodh Narayanan, Dorothy K Grange, Judith L Weisenberg, Tobias B Haack, Stephanie Karch, Patricia Kipkemoi, Moses Mangi, Karen G C B Bindels de Heus, Marie-Claire Y de Wit, Tahsin Stefan Barakat, Derek Lim, Géraldine Van Winckel, Rebecca C Spillmann, Vandana Shashi, Maureen Jacob, Antonia M Stehr, Peter Krawitz, Gunnar Douzgos Houge, Veerle Janssens
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disorders.
European journal of human genetics : EJHG
Authors:
Aron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, Tzung-Chien Hsieh, Fabian Brand, Fabio Hellmann, Silvan Mertes, Elisabeth André, Shahida Moosa, Thomas Schultz, Benjamin D Solomon, Peter Krawitz
