Query author contributions in Reactome

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Details on Person Shendure, Jay

Class:Id	Person:5652117
_displayName	Shendure, Jay
_timestamp	2014-11-27 15:52:04
created	[InstanceEdit:5652118] Jassal, Bijay, 2014-11-27
firstname	Jay
initial	J
surname	Shendure
(author)	[LiteratureReference:5652121] Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation [LiteratureReference:5679077] Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia [LiteratureReference:8938466] Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility [LiteratureReference:9629985] A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer [LiteratureReference:9698138] The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities [LiteratureReference:9750875] A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function [LiteratureReference:9772486] A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes [LiteratureReference:9915400] Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures [LiteratureReference:9944939] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome [LiteratureReference:9969682] Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia List all 11 refering instances
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No pathways have been reviewed or authored by Shendure, Jay (5652117)