Last Updated: 09/26/2026
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Found 83 publications
Epilepsy-associated digenic variants affecting an actin-mitochondria-glutamate pathway promote seizure susceptibility.
Journal: The Journal of clinical investigation
Published: July 16, 2026
A quantitative definition of the clinical manifestations of GATA2 deficiency in adults.
Journal: Blood
Published: May 18, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.
Journal: Clinical genetics
Published: May 12, 2026
Integrating qHTS and QSAR Models to Identify Safe GPCR-Targeted Compounds: A Focus on hERG-Dependent Cardiotoxicity.
Journal: Journal of chemical information and modeling
Published: February 17, 2026
Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.
Journal: American journal of human genetics
Published: January 29, 2026
Early immune dysregulation in Mtb/SIV co-infection resists cART treatment at the single-cell level.
Journal: iScience
Published: December 10, 2025
Computational strategies for copy number variation detection, disease association, and beyond.
Journal: Genome biology
Published: November 27, 2025
Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
Journal: eLife
Published: August 27, 2025
Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.
Journal: medRxiv : the preprint server for health sciences
Published: August 08, 2025
Systematic evaluation of Tox21 compounds that target β-adrenergic receptors and their role in cardiotoxicity.
Journal: Toxicology and applied pharmacology
Published: July 17, 2025
Worldwide Burden of Urogenital Congenital Anomalies Across Childhood and Adolescence, 1990-2021: Results From the Global Burden of Disease Study 2021.
Journal: Congenital anomalies
Published: June 27, 2025
Last Updated: 09/26/2026