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Stem Cell Research|December 9, 2025
Developing iPSC models from phenylketonuria patients with varying PAH gene mutationsDesi Veleva, Mohammad M Chowdhury, Merve Ay, et al.
Stem Cell Research|March 31, 2024
Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuriaDesi Veleva, Merve Ay, Dmitry A Ovchinnikov, et al.
Stem Cell Research|March 29, 2024
Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuriaDesi Veleva, Merve Ay, Dmitry A Ovchinnikov, et al.
Molecular Genetics and Metabolism|February 6, 2018
Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causingMichael Nafisinia, Minal Juliet Menezes, Wendy Anne Gold, et al.
Plos One|June 9, 2017
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunctionMichael Nafisinia, Lisa G Riley, Wendy A Gold, et al.
European Journal of Human Genetics : EJHG|September 15, 2017
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher diseaseMichael Nafisinia, Nara Sobreira, Lisa Riley, et al.
JIMD Reports|June 27, 2016
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderMichael Nafisinia, Yiran Guo, Xiao Dang, et al.
Molecular Genetics and Metabolism|January 7, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in childrenLisa G Riley, Michael Nafisinia, Minal J Menezes, et al.
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