Author

Kierstin N. Keller

Children's Hospital of PhiladelphiaORCID 0000-0002-4360-474XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Assay:ATAC-seq· 1 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1

Frequent Co-Authors

Adrian SantanaiD· 1 shared Arrienne Butic· 1 shared Benjamin A. GarciaiD· 1 shared Clair A. FrancomanoiD· 1 shared Douglas C. WallaceiD· 1 shared Jessica Y. HuangiD· 1 shared Jesus A Tintos-Hernández· 1 shared Kevin A. JansseniD· 1 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

Adrian SantanaORCID

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2 papers

Recent·Most cited

Novel mtDNA Imparts the Connective Tissue Disorder of a Tourette Pedigree

Patrick M. Schaefer, Leonardo Scherer Alves, Maria Lvova, Jessica Y. Huang, Komal S. Rathi, Kevin A. Janssen, Arrienne Butic, Tal Yardeni, Ryan M. Morrow, Marie T. Lott, Kierstin N. Keller, Benjamin A. Garcia, Clair A. Francomano, Douglas C. Wallace

The paper identifies a mitochondrial haplogroup mutation interacting with a HDC variant to cause mitochondrial dysfunction and connective tissue disorder.

bioRxiv · Feb 25, 2022 · PreprintGenetics

Lysosomal dysfunction impairs mitochondrial quality control and predicts neurodegeneration in TBCKE

Jesus A Tintos-Hernández, Adrian Santana, Kierstin N. Keller, Xilma Rosa Ortiz-Gonzalez

This study shows that TBCK mutations impair mitochondrial quality control via lysosomal dysfunction, correlating with neurodegeneration severity.

Brain Communications · Sep 13, 2021Peer-reviewedGenetics