Last Updated: 09/26/2026
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Found 108 publications
Bipolar disorder-associated variants in RAB5A disrupt its function in endolysosomal trafficking in fruit fly and mammalian systems.
Journal: Research square
Published: September 03, 2026
How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models.
Journal: Annual review of genomics and human genetics
Published: May 11, 2026
NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila.
Journal: bioRxiv : the preprint server for biology
Published: April 03, 2026
NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila.
Journal: bioRxiv : the preprint server for biology
Published: April 03, 2026
International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease.
Journal: Neurogastroenterology and motility
Published: January 31, 2026
International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease.
Journal: Neurogastroenterology and motility
Published: January 31, 2026
Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 12, 2025
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
Journal: eLife
Published: August 27, 2025
Last Updated: 09/26/2026