Author

Shuhd Bineshaq

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Open access Aug 2026

Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders.

The first comprehensive human mechanistic model of PPP1R9A haploinsufficiency using an isogenic CRISPR/Cas9-engineered iPSC system differentiated into cortical neurons is established, providing a human-specific mechanistic framework linking reduced Neurabin I dosage to neurodevelopmental and psychiatric disease risk.

Binte Zehra, Nesrin Mohamed, Richa Tambi et al. · Molecular Psychiatry · 0 citations

Open access Jul 2026

Phenotype Dependent Segregation of a Novel EPS8 Variant for Hearing Loss and an HPDL Variant for Neurodevelopmental Disorders in a Complex Consanguineous Family

The mutational spectrum of EPS8 is expanded and the independent segregation of two autosomal recessive disorders within the complex consanguineous family is highlighted, resulting in distinct and blended phenotypes.

Bassam Jamalalail, Ahmed A. Khalifa, Bipin Balan et al. · bioRxiv · 0 citations