Showing 1 - 6 results of 6 for search 'Barbara DuPont', query time: 0.02s
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P435: Diagnostic yield and copy number findings from 500 clinical genome sequencing cases by Kameryn Butler, Benjamin Hilton, Timothy Fee, Barbara DuPont
Published 2023-01-01
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P582: Exon-level copy number variations identified by whole genome sequencing in previously undiagnosed patients with rare hereditary diseases by Jiyong Wang, Raymond Caylor, Julie Jones, Jennifer Lee, Raymond Louie, Benjamin Hilton, Barbara DuPont, Kameryn Butler
Published 2023-01-01
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P727: Rare disease diagnostics using RNA-Seq: How an investigational transcriptomic test helped conclude a 12-Year diagnostic odyssey by Jessica Cooley Coleman, Adithya Kandhadai, Christa Clinemyer, Timothy Fee, Benjamin Hilton, Barbara DuPont, Michael Lyons, Roger Stevenson, Michael Friez
Published 2024-01-01
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P657: NSD2 duplication results in distinct phenotype and DNA methylation signature by Benjamin Hilton, Bekim Sadikovic, Alfredo Brusco, Giovanni Battista Ferrero, Barbara DuPont, Matthew Tedder, Raymond Louie, Nikhil Sahajpal, Erica Andersen, Zoe Lewis, Amanda Openshaw, Jennifer Kerkhof, Haley McConkey, Raissa Relator, Sadegheh Haghshenas, Jack Reilly, Kathleen Rooney
Published 2023-01-01
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