Kierstin Keller

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Elizabeth M. McCormick, Kierstin Keller, Julie P. Taylor et al. · Annals of Neurology · 2023 · 60 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Homozygous boricua <i>TBCK</i> mutation causes neurodegeneration and aberrant autophagy

Xilma R. Ortiz‐González, Jesus A Tintos-Hernández, Kierstin Keller et al. · Annals of Neurology · 2017 · 47 citations · Full text

Life Sciences, Genetics, Neurology +17

Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation

Patrick M. Schaefer, Leonardo Scherer Alves, Maria Lvova et al. · Proceedings of the National Academy of Sciences · 2022 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanding the phenotype, genotype and biochemical knowledge of <scp>ALG3‐CDG</scp>

Hind Alsharhan, Bobby G. Ng, Earnest James Paul Daniel et al. · Journal of Inherited Metabolic Disease · 2021 · 21 citations · Full text

Life Sciences, Biochemistry, Genetics +4

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

Christina Lam, Fernando Scaglia, Austin Larson et al. · Molecular Genetics and Metabolism · 2024 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14