Laura R. Claus

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 9 publications

Transition of patients with hereditary nephropathies from paediatric to adult care.

Transition of patients with hereditary nephropathies from paediatric to adult care.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: June 18, 2025

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.

Journal: Nephron

Published: December 21, 2024

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.

Journal: Kidney international reports

Published: May 24, 2024

Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.

Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: January 25, 2024

Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.

Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.

Journal: Nephron

Published: September 04, 2023

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

Journal: Kidney international

Published: July 29, 2022

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.

Journal: European journal of human genetics : EJHG

Published: July 18, 2022

Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.

Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: April 05, 2022

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.

Journal: Kidney international

Published: February 24, 2021

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Last Updated: 09/26/2026