Hans Tomas Bjornsson

Shared transcriptional consequences of epigenetic machinery disruption in murine neuronal progenitors

The Mendelian disorders of the epigenetic machinery (MDEMs) are an emerging group of disorders which commonly involve disruption of intellect and growth. To investigate consequences of epigenetic machinery (EM) disruption during neurodevelopment, we systematically knocked out (KO...

A patient-derived missense mouse model of Kabuki syndrome 1

Kabuki syndrome type 1 (KS1) is a rare cause of intellectual disability resulting from heterozygous pathogenic variants in the gene encoding the histone methyltransferase KMT2D. A previously established loss-of-function mouse model of KS1 exhibits key phenotypic features, and the...