Bert J. Van Der Zwaag
Utrecht, UT, Netherlands
Last Updated: 09/26/2026
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Found 63 publications
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2025
Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.
Journal: Nephron
Published: December 21, 2024
Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia.
Journal: iScience
Published: June 19, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Journal: Kidney international reports
Published: May 24, 2024
Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes.
Journal: Kidney international reports
Published: April 04, 2024
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.
Journal: Nephron
Published: September 04, 2023
Identification of candidate genes for developmental colour agnosia in a single unique family.
Journal: PloS one
Published: June 30, 2023
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
Journal: Kidney international
Published: September 28, 2022
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
Last Updated: 09/26/2026