Muhammad Ansar

IVA uses a small language model to perform local genomic variant interpretation, achieving high sensitivity but lower precision in identifying pathogenic variants.

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

The GenPK Suite is a digital platform for rare disease research that integrates data collection, 3D facial imaging, and workflow management, demonstrating secure and scalable implementation in field settings.

This study identifies small molecules that restore Golgi morphology and neurite outgrowth in Cohen Syndrome models by modulating sphingolipid metabolism.

This study develops a method to generate human anterior neural organoids (hANOs) and uses them to model microcephaly in Cohen syndrome by analyzing gene expression and cellular phenotypes.

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

The paper identifies biallelic truncation variants in ATP9A as a cause of a novel autosomal recessive neurodevelopmental disorder in two consanguineous families.

The paper identifies a dominant monoallelic PAK2 variant causing Knobloch syndrome type 2 with intellectual disability and retinal degeneration.

The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.