Publications by authors named "S Riazuddin"

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Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.
Hannah M German, Maha S Zaki, Muhammad A Usmani, Irem Karagoz, Stephanie Efthymiou, Sheikh Riazuddin, Saima Riazuddin

Genet Med· December 2025

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Pluripotent Stem Cell-Derived Corneal Endothelial Cells Form a Functional Corneal Endothelium in Canines.
Muhammad Ali, Shahid Y Khan, Hira Butt, Ryan C Navarro, Jessica M Izzi, S Amer Riazuddin

Transl Vis Sci Technol· October 2025

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KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.
Tehmeena Akhter, Zubair M Ahmed, Yaping Ji, Axel Schmidt, Meron Azage, Sheikh Riazuddin, Saima Riazuddin

Genet Med· October 2025

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Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
Saima Riazuddin, Inna A Belyantseva, Arnaud P J Giese, Kwanghyuk Lee, Artur A Indzhykulian, Sheikh Riazuddin

Nat Genet· September 2025

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MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity.
Gowri Nayak, Elodie M Richard, Byung Cheon Lee, Gavin P Riordan, Inna A Belyantseva, Saima Riazuddin

Dis Model Mech· August 2025

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