Julia Rankin

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.

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

The paper identifies a silencer element lost in ADLD patients that specifically targets oligodendrocyte overexpression of LMNB1, linking it to disease pathogenesis.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

The paper identifies non-coding variants in trans with coding variants in patients with developmental disorders, finding them to be a rare cause of recessive disorders.

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

The contribution of X-linked coding variation to severe developmental disorders

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.