Author

Robin Howard

Queen Mary University of LondonORCID 0000-0001-7021-714XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:imaging· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Pietro FrattaiD· 2 shared Aditi Chawla· 1 shared Ahmed Emira· 1 shared Ana Lisa Taylor TavaresiD· 1 shared Andrea MalaspinaiD· 1 shared Andrew David MumfordiD· 1 shared Anette E. SchragiD· 1 shared Angela Douglas· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenomics

Pietro FrattaORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintNov 6, 2020

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Kristina Ibáñez, James M. Polke, Tanner Hagelstrom…·Arianna Tucci

This study demonstrates that whole genome sequencing can effectively detect repeat expansions in neurological disorders with high sensitivity and specificity, enabling diagnosis in previously undiagnosed patients.

6 citations

humanwhole-genome sequencing

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NeuroscienceNeurologyPeer-reviewedAug 7, 2019

Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity

Uros Klickovic, Luca Zampedri, Christopher D. J. Sinclair…·Pietro Fratta

This study shows that skeletal muscle MRI can distinguish between SBMA and ALS and is linked to disease severity.

68 citationstop 4%

humanimaging

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