Author

Miriam Doepner

Children's Hospital of PhiladelphiaORCID 0000-0002-9736-2651Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

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Apexa ModiiD· 1 shared Daniela Se Gerhard· 1 shared Eric Hyson· 1 shared Gonzalo LópeziD· 1 shared Jaime M. Guidry AuviliD· 1 shared Javed Iqbal KhaniD· 1 shared John M. MarisiD· 1 shared Jun Stephen WeiiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

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1 paper

Recent·Most cited

GenomicsGenome ResearchPeer-reviewedSep 1, 2020

Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma

Gonzalo López, Karina L. Conkrite, Miriam Doepner…·Sharon J. Diskin

This study identifies somatic structural variations in neuroblastoma, showing their enrichment in neurodevelopmental genes and the tumor suppressor role of SHANK2.

33 citations

humanwhole-genome sequencing

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