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Molecular Genetics and Metabolism Reports|September 3, 2020
Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tardaAlanna Strong, Kierstin Keller, Jamie Merves
Proceedings of the National Academy of Sciences of the United States of America|September 29, 2025
A mouse model of MEPAN demonstrates a role for mitochondrial fatty acid synthesis in iron-sulfur cluster and supercomplex formationDeborah G Murdock, Kevin A Janssen, Kierstin Keller, et al.
Genes|July 28, 2026
MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established Through Literature Mining and Generative AI AugmentationLishuang Shen, Marie T Lott, Elizabeth M Mccormick, et al.
Annals of Neurology|May 31, 2023
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome SpectrumElizabeth M McCormick, Kierstin Keller, Julie P Taylor, et al.
American Journal of Medical Genetics. Part A|March 21, 2025
A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With GenodermatosesSneha A Rangu, Kierstin Keller, Dong Li, et al.
Nature Communications|December 15, 2025
Partial restoration of mitochondrial dysfunction by AAV-Ant1 protects from dilated cardiomyopathy in Ant1-/- plus mtDNA mutant miceAlessia Angelin, Kierstin Keller, Peiran Lu, et al.
Annals of Neurology|December 29, 2017
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagyXilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 2, 2022
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulationPatrick M Schaefer, Leonardo Scherer Alves, Maria Lvova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 16, 2026
New genotype-phenotype correlations and management recommendations for individuals with RERE variantsDavid Curtis, Xiaonan Zhao, Nichole M Owen, et al.
Molecular Genetics and Metabolism|July 3, 2024
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohortChristina Lam, Fernando Scaglia, Gerard T Berry, et al.
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