Jill A. Fahrner

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.

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

A machine learning model identifies six key phenotypic features to classify Beckwith-Wiedemann spectrum patients and controls with performance comparable to existing clinical criteria.

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.

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 identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.