Manju A. Kurian

The paper investigates BLTP1's role in neocortical lamination by analyzing patients and mouse models, finding lipid transport defects cause structural brain abnormalities.

The paper presents a framework for prioritizing targets and patients for antisense oligonucleotide therapies in rare diseases, focusing on equitable and systematic decision-making.

This study compares in vivo and in vitro midbrain development to assess their similarity to human fetal tissue.

The paper establishes a humanized neuronal model to investigate the effects of manganese dysregulation on neuronal function and disease mechanisms.

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.

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.

This study investigates the effects of a DAT mutation linked to DTDS, showing impaired dopamine function and behavioral deficits in Drosophila, with potential therapeutic implications.

The paper identifies bi-allelic variants in TSPOAP1 as a cause of autosomal recessive dystonia, showing different clinical presentations based on variant type.

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

The paper identifies a novel de novo missense variant in GABRA2 associated with EIEE and analyzes structural impacts of seven variants across Cys-loop receptors.