Author

Sandy S. Pineda

The University of SydneyORCID 0000-0002-9003-0101Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Andrea CorteseiD· 1 shared Avi FellneriD· 1 shared Carol Dobson‐StoneiD· 1 shared Carolin K. ScribaiD· 1 shared Gianina RavenscroftiD· 1 shared Glenda Margaret HallidayiD· 1 shared Hasindu GamaarachchiiD· 1 shared Henry HouldeniD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrea CorteseORCID

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1 paper

Recent·Most cited

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, James M. Ferguson, Sandy S. Pineda, Carolin K. Scriba, Michel C. Tchan, Victor S.C. Fung, Karl Ng, Andrea Cortese, Henry Houlden, Carol Dobson‐Stone, Lauren Fitzpatrick, Glenda Margaret Halliday, Gianina Ravenscroft, , Ira W. Deveson

This study develops a programmable nanopore sequencing assay for diagnosing all known pathogenic STRs in a single test, accurately diagnosing 27 patients with neurogenetic disorders.

Science Advances · Mar 4, 2022Peer-reviewedGenetic & Genomic Medicine