Publication
De novo heterozygous variants in EHMT2 genocopy Kleefstra syndrome via loss of G9a methyltransferase activity
Aleš Hnízda, Beatriz Martinez-Delgado, Diana Sanchez-Ponce, Javier Alonso, Jeanne Amiel, Tania Attie-Bitach, Ariadna Bada-Navarro, Beatriz Baladron, Eva Bermejo-Sanchez, Vítězslav Brinsa, Ivana Buková, Rosario Cazorla-Calleja, Sylvie Červenková, Shanshan Chow, Petr Dušek, Marta Fernandez, Sourav Ghosh, Gema Gomez-Mariano, Andrea Gřegořová, Mark James Hamilton, Hana Hartmannová, Esther Hernandez-San Miguel, Marina Herrero-Matesanz, Kateřina Hodaňová, Alan Kádek, Jennifer Kerkhof, Tjitske Kleefstra, Didier Lacombe, Michael A. Levy, Estrella Lopez-Martin, Ruaud Lyse, Petr Man, Purificacion Marin-Reina, Ellen F. Macnamara, Haley McConkey, Petra Melenovská, Lidia M. Mielu, David Moore, Lenka Mrázová, Karolína Musilová, Petr Nickl, Martina Pavlíková, Lea Pavlovičová, Manuel Posada, Jan Procházka, Kateryna Pysanenko, Sheila Ramos del Saz, Dmitrijs Rots, Jessica Rzasa, Radislav Sedláček, Viktor Stránecký, František Špoutil, Matthew L. Tedder, Louise Thompson, Cynthia J. Tifft, Frederic Tran Mau-Them, Helena Trešlová, Antonio Vitobello, Bekim Sadikovic, Jakub Sikora, Stanislav Kmoch, Maria J. Barrero, Lenka Nosková
September 2025, Cold Spring Harbor Laboratory Press
DOI: 10.1101/2025.09.25.678439