Author

Robert James Hopkin

Cincinnati Children's Hospital Medical CenterORCID 0000-0003-0770-5516Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 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 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Carlo Alberto AngelettiiD· 1 shared Giuseppe OrsomandoiD· 1 shared Jiaqi LiuiD· 1 shared Jonathan GilleyiD· 1 shared Joun ParkiD· 1 shared Marshall Lukacs· 1 shared Michael P. ColemaniD· 1 shared Rolf W. StottmanniD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Carlo Alberto AngelettiORCID

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1 paper

Recent·Most cited

GeneticsExperimental NeurologyPeer-reviewedMay 25, 2019

Severe Biallelic Loss-of-function Mutations in Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2) in Two Fetuses with Fetal Akinesia Deformation Sequence

Marshall Lukacs, Jonathan Gilley, Yi Zhu…·Rolf W. Stottmann

The paper identifies biallelic NMNAT2 mutations in two fetuses with FADS, showing their role in axon survival and linking them to Wallerian degeneration.

61 citationstop 4%

humanmouse

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