Author

Stephanie P. Muscat

Stanford Medicine

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Alexander KreymermaniD· 1 shared Casey A. GiffordiD· 1 shared Edward H. WoodiD· 1 shared Gregory M. EnnsiD· 1 shared Ioannis KarakikesiD· 1 shared Jamal NasiriD· 1 shared Jill L Young· 1 shared Juan CaicedoiD· 1 shared

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2023-2023 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander KreymermanORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 3, 2023

Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmy

Kinsley C. Belle, Alexander Kreymerman, Nirmal Vadgama…·Edward H. Wood

The paper identifies a novel mtDNA variant m.12148T>C associated with multisystem dysfunction and highlights the importance of tissue-specific heteroplasmy analysis.

DOI 10.1101/2023.11.03.23297854

humanexperimental assay

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