Congenital heart disease (CHD) is the most common congenital malformation and the
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …

Congenital heart disease (CHD) affects~ 1% of all live births, but a definitive etiology is
identified in only~ 50%. The causes include chromosomal aneuploidies and copy-number …

Personalized interventions are deemed vital given the intricate characteristics,
advancement, inherent genetic composition, and diversity of cardiovascular diseases …

Mitochondrial dynamics and trafficking are essential to provide the energy required for
neurotransmission and neural activity. We investigated how G protein–coupled receptors …

The solute carrier family 12 (SLC12) of cation-chloride cotransporters (CCCs) comprises
potassium chloride cotransporters (KCCs, eg KCC1, KCC2, KCC3, and KCC4)-mediated …

Myoblast fusion is an indispensable process in skeletal muscle development and
regeneration. Studies in Drosophila led to the discovery of the asymmetric fusogenic …

Programmed cell death is pivotal for several physiological processes, including immune
defense. Further, it has been implicated in the pathogenesis of developmental disorders and …

NCKAP1/NAP1 regulates neuronal cytoskeletal dynamics and is essential for neuronal
differentiation in the developing brain. Deleterious variants in NCKAP1 have been identified …

Actin polymerization and depolymerization are fundamental cellular processes required not
only for the embryonic and postnatal development of the brain but also for the maintenance …

Pathogenic AGO1 variants have been associated with neurodevelopmental disorders,
including autism spectrum disorder, developmental delay, intellectual disability, and …