Kate Chandler

Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy

The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway

This study uses hPSCs to model MED with MATN3 mutations, revealing altered matrix organisation and upregulated cholesterol biosynthesis pathway.

Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.

The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.

Contribution of Retrotransposition to Developmental Disorders

The paper identifies retrotransposition events in developmental disorders using exome sequencing data from the DDD study and shows their evolutionary constraints.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.