Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.
Wu J et al.
Urolithiasis, 2023
Primary hyperoxaluria: a case series.
Rather JI et al.
Journal of Medical Case Reports, 2023
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
A Rare Sparkle: A Case of Calcified Kidneys in a Young Infant With Renal Failure.
Mittal A et al.
Cureus, 2023
Clinical utility of genetic testing in Indian children with kidney diseases.
Saha A et al.
Bmc Nephrology, 2023
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A et al.
Clinical Genetics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Deesker LJ et al.
Kidney International Reports, 2022
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
Xu CB et al.
Bmc Nephrology, 2021
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K et al.
Bmc Medical Genetics, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF et al.
Current Medical Science, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
Williams EL et al.
Molecular Genetics & Genomic Medicine, 2015
Common mutation underlying primary hyperoxaluria type1 in three Indian children.
Chanchlani R et al.
Indian Journal of Nephrology, 2012
Liver-kidney transplantation in primary hyperoxaluria type-1: case report and literature review.
Siegal D et al.
International Journal of Organ Transplantation Medicine, 2011
Primary hyperoxaluria type 1 with a novel mutation.
Sethi SK et al.
Indian Journal of Pediatrics, 2009
Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease.
Dutta AK et al.
Indian Journal of Nephrology, 0
Clinical and Genetic Profile of Indian Children with Primary Hyperoxaluria.
Pinapala A et al.
Indian Journal of Nephrology, 0
Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.
Krishnamurthy S et al.
Indian Journal of Nephrology, 0