Kierstin N. Keller

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

J. Rosenfeld, D. Nickerson, M. Bamshad, 2021, Journal of inherited metabolic disease.

Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy

X. Ortiz-González, Adrian Santana, Jesus A Tintos-Hernández, 2021, Brain communications.

Lysosomal dysfunction impairs mitochondrial quality control and predicts neurodegeneration in TBCKE

X. Ortiz-González, J. A. Tintos-Hernández, Kierstin N Keller, 2020, bioRxiv.

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy

P. Crino, D. Wallace, C. Bönnemann, 2018, Annals of neurology.

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

Marni J. Falk, Lishuang Shen, B. Harding, 2023, Annals of neurology.

Expanding Genetic Counselor Roles: A Model for Global Research Development

E. Bedoukian, B. Keena, Jessica M. Long, 2024, Genes.