Thomas M Kitzler

7PUBLICATIONS
46CO-AUTHORS
Infant and child healthStructural properties of condensed matterNeurology and neuromuscular diseasesMedical molecular engineering of nucleic acids and proteinsDevelopmental genetics (incl. sex determination)
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Publications (7)

|Oct 05, 2026
Expanding the Phenotypic Spectrum of TXNDC15-Related Ciliopathies to Include Joubert Syndrome.

|Sep 14, 2026
SPEF1 mediates assembly of central pair microtubule complexes in cilia of Tetrahymena.

|Aug 27, 2026
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.

|Jan 23, 2026
SPEF1 mediates assembly of the central pair microtubule complexes in cilia of Tetrahymena.

Mayukh Guha, Krishna Kumar Vasudevan, Yu-Yang Jiang

|Sep 19, 2025
Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology.

Zachary T Sentell, Anthony C T Cheung, Felicia Russo

|Oct 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Karim Karimi, Denisa Weis, Ingvild Aukrust

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Frequent Collaborators

4 joint publications

Lina Mougharbel

3 joint publications

Zachary T Sentell

2 joint publications

Yu-Yang Jiang

2 joint publications

Gerard W Dougherty