Author

Adrian Santana

Children's Hospital of PhiladelphiaORCID 0009-0006-9784-6206Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Jesus A Tintos-Hernández· 2 shared Xilma Rosa Ortiz-GonzaleziD· 2 shared Camilla Berera· 1 shared Cesar AlvesiD· 1 shared Chaya Nautiyal MuraliiD· 1 shared Ivan J. DmochowskiiD· 1 shared Joanna J. PhillipsiD· 1 shared Joseph T.C. ShiehiD· 1 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jesus A Tintos-Hernández

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 30, 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

Joseph T.C. Shieh, Jesus A Tintos-Hernández, Chaya Nautiyal Murali…·Xilma Rosa Ortiz-Gonzalez

This study identifies heterozygous FTH1 variants causing a novel pediatric neuroferritinopathy with neuroimaging and neuropathological features, and suggests antisense oligonucleotide therapy.

1 citation

humanbulk RNA-seq

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GeneticsBrain CommunicationsPeer-reviewedSep 13, 2021

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.

23 citations

humanATAC-seq

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