De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity

A Aleš Hnízda B Beatriz Martinez-Delgado D Diana Sánchez-Ponce J Javier Alonso J Jeanne Amiel T Tania Attie-Bitach A Ariadna Bada-Navarro B Beatriz Baladron E Eva Bermejo-Sanchez V Vítězslav Brinsa I Ivana Buková R Rosario Cazorla-Calleja S Sylvie Červenková S Shanshan Chow P Petr Dušek O Olha Fedosieieva M Marta Fernandez-Prieto S Sourav Ghosh G Gema Gomez-Mariano A Andrea Gřegořová M Mark James Hamilton H Hana Hartmannová E Esther Hernandez-SanMiguel M Marina Herrero-Matesanz K Kateřina Hodaňová A Alan Kádek J Jennifer Kerkhof T Tjitske Kleefstra D Didier Lacombe M Michael A. Levy E Estrella Lopez-Martin R Ruaud Lyse P Petr Man P Purificacion Marin-Reina E Ellen F. Macnamara H Haley McConkey P Petra Melenovská L Lidia M. Mielu D David Moore L Lenka Steiner Mrázová K Karolína Musilová K Kristýna Neffeová P Petr Nickl D David Pajuelo Reguera M Martina Pavlíková L Lea Pavlovičová M Manuel Posada J Jan Procházka K Kateryna Pysanenko S Sheila Ramos del Saz D Dmitrijs Rots J Jessica Rzasa R Radislav Sedláček V Viktor Stránecký F František Špoutil M Matthew L. Tedder L Louise Thompson C Cynthia J. Tifft (Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD) F Frederic Tran Mau-Them H Helena Trešlová A Antonio Vitobello S Sarah Hilton C Christopher Campbell S Siddharth Banka D Daniel Jirák B Bekim Sadikovic J Jakub Sikora S Stanislav Kmoch M Maria J. Barrero L Lenka Nosková