Hans Tomas Bjornsson

This study shows that KMT2D deficiency causes chondrocyte hypertrophy and senescence via increased mitochondrial ROS, leading to skeletal abnormalities in KS1.

The paper introduces a missense mouse model of Kabuki syndrome with intact KMT2D function, showing similar phenotypes to loss-of-function models but without altered adult neurogenesis and with novel kidney agenesis.

This study identifies SARAF as a repressor of the mild hypothermia response by regulating JUN and calcium dynamics, showing its role in cytoprotection against hypoxia.

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

The paper identifies AIP as a regulator that links mTORC1 activation with catabolic metabolism during neonatal development, ensuring metabolic adaptation and survival.

This study investigates the molecular consequences of epigenetic machinery disruption in neuronal progenitors by knocking out EM factors and analyzing gene expression and DNA methylation changes.

The paper identifies molecular pathways associated with neurodevelopmental disorder subgroups using neuroimaging data from mice and humans.

This study shows that biallelic AIP loss causes a severe pediatric disease with proteostasis defects, observed in human and zebrafish models.

This study identifies SMYD5 as a regulator of the mild hypothermia response through histone modifications, revealing its role in temperature-dependent gene repression.

This study demonstrates that in-utero restoration of KMT2A in a mouse model of WDSTS rescues neurological phenotypes, suggesting a therapeutic window during mid-gestation.

The paper examines chromatin disruption in different cell types of Kabuki syndrome mice and finds that neuronal chromatin abnormalities differ from those in B and T cells, with unique disruptions at CpG islands and aging-related regions.

The paper creates a mouse model of Weaver syndrome and shows that inhibiting KDM6A/6B can reverse excessive osteogenesis caused by an EZH2 mutation.

This study compares growth retardation in mouse models of Kabuki syndrome 1 and 2, finding similar transcriptional profiles in their chondrocyte models.

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

The paper identifies that WSS-causing variants in KMT2A cluster in the CXXC domain and demonstrates AlphaFold2's ability to accurately classify these variants.

The paper introduces tricycle, a method to predict cell cycle position from single-cell RNA-seq data using transfer learning, showing it generalizes across datasets and species.

The paper identifies shared epigenetic and transcriptomic disruptions across three MDEMs to map functional epigenetic variation.

The paper shows that inhibiting KDM1A activity rescues adult neurogenesis and hippocampal memory defects in a mouse model of Kabuki syndrome.

The paper shows that promoter CpG density predicts gene loss-of-function intolerance and improves prediction models for LoF-intolerant genes.

This study identifies disrupted endochondral ossification in Kabuki syndrome mice due to precocious chondrocyte differentiation, linking KMT2D dysfunction to altered Shox2 expression and growth retardation.

This study investigates the effects of KMT2D loss in brain cell development, finding precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome models.

The paper identifies 103 novel epigenetic regulator disease candidates by analyzing co-expression patterns and loss-of-function intolerance in human epigenetic machinery genes.

The paper identifies a critical genomic region on chromosome 19 that protects the active X chromosome from XIST-mediated silencing, linking its disruption to embryonic female loss.