Last Updated: 09/26/2026
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Found 19 publications
The landscape of allele-specific expression in human kidneys.
Journal: bioRxiv : the preprint server for biology
Published: December 22, 2025
Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.
Journal: Kidney international
Published: July 09, 2025
Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis.
Journal: Kidney international
Published: July 09, 2025
Massively parallel reporter assays identify functional enhancer variants at QT interval GWAS loci.
Journal: bioRxiv : the preprint server for biology
Published: March 31, 2025
Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics.
Journal: Kidney medicine
Published: November 22, 2024
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Journal: Genes & diseases
Published: September 04, 2023
Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs.
Journal: Nature communications
Published: June 14, 2022
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
Journal: Journal of the American Society of Nephrology : JASN
Published: January 27, 2022
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 08, 2021
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Journal: American journal of human genetics
Published: September 15, 2020
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.
Journal: Kidney international reports
Published: September 06, 2020
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
Journal: Kidney international reports
Published: September 05, 2020
Last Updated: 09/26/2026