Thomas M. Kitzler

Montreal, QC, Canada

Last Updated: 09/26/2026

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Found 44 publications

Swimming Upstream to Understand Congenital Anomalies of the Kidney and Urinary Tract: Zebrafish Models for Developmental Biology, Disease Mechanisms, and Functional Interpretation of Genetic Variation.

Swimming Upstream to Understand Congenital Anomalies of the Kidney and Urinary Tract: Zebrafish Models for Developmental Biology, Disease Mechanisms, and Functional Interpretation of Genetic Variation.

Journal: Genes

Published: June 06, 2026

SPEF1 mediates assembly of the central pair microtubule complexes in cilia of Tetrahymena.

SPEF1 mediates assembly of the central pair microtubule complexes in cilia of Tetrahymena.

Journal: bioRxiv : the preprint server for biology

Published: January 23, 2026

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology.

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology.

Journal: Clinical genetics

Published: August 11, 2025

Contiguous Gene Deletion Involving COL4A1 and COL4A2 in a Patient with Thin Basement Membrane Nephropathy: A Case Report.

Contiguous Gene Deletion Involving COL4A1 and COL4A2 in a Patient with Thin Basement Membrane Nephropathy: A Case Report.

Journal: Nephron

Published: July 13, 2025

Proximity-based proteomics (BioID) uncovers the Rho GTPase interactome in kidney podocytes.

Proximity-based proteomics (BioID) uncovers the Rho GTPase interactome in kidney podocytes.

Journal: Frontiers in cell and developmental biology

Published: May 09, 2025

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.

Journal: Human molecular genetics

Published: August 13, 2024

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.

Journal: Frontiers in endocrinology

Published: April 28, 2024

Genetic Assessment of Living Kidney Transplant Donors: A Survey of Canadian Practices.

Genetic Assessment of Living Kidney Transplant Donors: A Survey of Canadian Practices.

Journal: Canadian journal of kidney health and disease

Published: April 21, 2024

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Journal: European journal of human genetics : EJHG

Published: March 05, 2024

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.

Journal: Nephron

Published: November 25, 2023

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.

Journal: European journal of human genetics : EJHG

Published: November 01, 2023

Primary cilia and actin regulatory pathways in renal ciliopathies.

Primary cilia and actin regulatory pathways in renal ciliopathies.

Journal: Frontiers in nephrology

Published: November 01, 2023

Showing 1-12 of 44

Last Updated: 09/26/2026