Author

Erno Wienholds

MaRS

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Amit G. DeshwariD· 1 shared Boyko KakaradoviD· 1 shared Brendan J. Frey· 1 shared Carl SpickettiD· 1 shared Daniele MericoiD· 1 shared Frank W. Schmitges· 1 shared James J. DowlingiD· 1 shared Jiexin Gao· 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 paperGenetics

Amit G. DeshwarORCID

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1 paper

Recent·Most cited

ATP7B Variant c.1934T>G p.Met645Arg Causes Wilson Disease by Promoting Exon 6 Skipping

Daniele Merico, Carl Spickett, Matthew O’Hara, Boyko Kakaradov, Amit G. Deshwar, Phil Fradkin, Shreshth Gandhi, Jiexin Gao, Solomon Grant, Ken J. Kron, Frank W. Schmitges, Zvi Shalev, Mark Sun, Marta Verby, Matthew Cahill, , Brendan J. Frey

This paper shows that the ATP7B variant c.1934T>G causes exon 6 skipping, leading to loss of function and confirming its pathogenicity in Wilson Disease.

npj Genomic Medicine · Apr 8, 2020Peer-reviewedGenetics