A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal MigrationO’Neill, Adam C.; Kyrousi, Christina; Klaus, Johannes; Leventer, Richard J.; Kirk, Edwin P.; Fry, Andrew; Pilz, Daniela T.; Morgan, Tim; Jenkins, Zandra A.; Drukker, Micha; Berkovic, Samuel F.; Scheffer, Ingrid E.; Guerrini, Renzo; Markie, David M.; Götz, Magdalena; Cappello, Silvia; Robertson, Stephen P. · Cell Reports · 2018

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 ofSRCAPNikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; da Cunha, Bruna Santos; Delaney, Louisa A; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M; Héron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H; Ibrahim, Jennifer; Jacob, Claire M; Kant, Sarina G; Kim, Chong Ae; Kirk, Edwin P; Knoers, Nine V; Lacombe, Didier; Lee, Chung; Lo, Ivan F; Lucas, Luiza S; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L; Simon, Marleen E; Slavotinek, Anne; Temple, I Karen; van der Burgt, Ineke; de Vries, Bert B; Weisfeld-Adams, James D; Whiteford, Margo L; Wierczorek, Dagmar; Wit, Jan M; Yee, Connie Fung; Beaulieu, Chandree L; White, Sue M; Bulman, Dennis E; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M · Orphanet Journal of Rare Diseases · 2013