Author

Rajna Filip‐Dhima

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Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:metabolomics· 1 Approach:statistical model· 1

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Alexander KolevzoniD· 1 shared Anna S. TochevaiD· 1 shared Audrey E. ThurmiD· 1 shared Aya OsmaniD· 1 shared Benoît ScherreriD· 1 shared Brett L. CollinsiD· 1 shared Craig M. PowelliD· 1 shared Elizabeth Berry‐KravisiD· 1 shared

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2022-2022 · 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 KolevzonORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewedSep 26, 2022

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Michael S. Breen, Xuanjia Fan, Tess Levy…·Jennifer M. Phillips

This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.

5 citations

humanbulk RNA-seq

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