Last Updated: 09/26/2026
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Found 211 publications
Atlas of glomerular disease-specific genetic effects on blood transcriptome.
Journal: medRxiv : the preprint server for health sciences
Published: July 03, 2026
Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.
Journal: JAMA network open
Published: March 11, 2026
A pilot study to assess a novel screening questionnaire for central sleep apnea in patients undergoing overnight diagnostic polysomnography.
Journal: Sleep & breathing = Schlaf & Atmung
Published: December 09, 2025
Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Journal: Nature communications
Published: October 09, 2025
Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Journal: Nature communications
Published: November 16, 2024
The impact of TRPV4 pathogenic mutations on barrier integrity.
Journal: Human molecular genetics
Published: October 21, 2024
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Journal: Epilepsy research
Published: May 02, 2024
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice.
Journal: JCI insight
Published: April 26, 2024
Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.
Journal: Journal of the American Society of Nephrology : JASN
Published: April 01, 2024
Investigating the Relationship Between Rare Genetic Variants and Fibrosis in Pediatric Nonalcoholic Fatty Liver Disease.
Journal: medRxiv : the preprint server for health sciences
Published: March 18, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
Journal: medRxiv : the preprint server for health sciences
Published: January 23, 2024
Last Updated: 09/26/2026