De Novo Mutations in the Genome Organizer CTCF Cause Intellectual DisabilityAnne Gregor(Friedrich-Alexander-Universität Erlangen-Nürnberg), Christiane Zweier(Friedrich-Alexander-Universität Erlangen-Nürnberg)The American Journal of Human GeneticsJune 6, 201310.1016/j.ajhg.2013.05.007Cited by 171SaveCiteExport RISWatch citationsRelated PapersLoss of PHF6 leads to aberrant development of human neuron-like cells|Scientific Reports|2020|8<i>De novo</i> variants in <i>LDB1</i> are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms|medRxiv|2026|0