Search Results - Whitney Thompson

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  1. 1

    P327: Proof of concept core biopsy technique of vascular malformations for DNA and RNA sequencing with novel identification of PKD1 variant by Whitney Thompson, Eric Klee, Brendan Lanpher, Emily Bendel, Megha Tollefson, Scott Thompson

    Published in Genetics in Medicine Open (2023-01-01)
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  2. 2

    P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype by Laura Rust, Paige Hazelton, Joseph Farris, Matheus Wilke, Eric Klee, Whitney Thompson, Sarah Thurman, Lisa Schimmenti, Brendan Lanpher

    Published in Genetics in Medicine Open (2024-01-01)
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  3. 3

    P179: A multicenter descriptive study of 176 neonatal-onset urea cycle disorder patients hospitalized in Level IV neonatal intensive care units by Whitney Thompson, Ellen Bendel-Stenzel, Isabella Zaniletti, Theresa Grover, Karna Murthy, Michael Padula, Khoon Ghee Queenie Tan, Kristen Suhrie

    Published in Genetics in Medicine Open (2025-01-01)
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  4. 4

    O18: BabyFORce: A pioneering program translating variants identified via rapid genome sequencing to targeted therapeutics for neonatal intensive care unit patients by Whitney Thompson, Christopher Schmitz, Filippo Pinto e Vairo, Andrew Haak, Brandi Smith, Eric Klee, Christopher Colby, Lisa Schimmenti, Christopher Moxham, Natalie Downs, Nicole Perfito, Laura Lambert

    Published in Genetics in Medicine Open (2025-01-01)
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  5. 5

    P198: Precision molecular diagnosis and treatment of vascular anomalies via ultra-deep genomic sequencing of affected tissue and a multidisciplinary care model by Eva Kahn, Whitney Thompson, Paul Bratcher, Brendan Lanpher, Megha Tollefson, Katelyn Anderson, Emily Bendel-Stenzel, Stephanie Polites, Haraldur Bjarnason, Lorin Bibb, Nicholas Bohrer, David Woodrum, Scott Thompson, Ahmad Al-Huniti

    Published in Genetics in Medicine Open (2025-01-01)
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  6. 6

    P201: The clinical utility of next-generation sequencing (NGS)-based genetic testing in pediatric polycystic kidney disease by Elif Bozkurt, Hana Yang, Jennifer Kemppainen, Tracy Baker, Mohamad Sheikh Najeeb, Whitney Thompson, Cheryl Tran, David Sas, Carl Cramer, Fouad Chebib, Neera Dahl, Vicente Torres, Filippo Pinto E Vairo, Peter Harris, Christian Hanna

    Published in Genetics in Medicine Open (2025-01-01)
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  7. 7

    P238: Diagnostic yield of ultra-rapid whole genome sequencing in the NICU: A retrospective review of 324 cases at a single institution by Radhika Dhamija, Hala Deeb, Laura Rust, Brendan Lanpher, Whitney Thompson, Ellen Bendel-Stenzel, Paige Ridder, Shelby Wellmann, Joan Steyermark, Lisa Schimmenti, Pavel Pichurin, David Deyle, Khoon Ghee Queening Tan, Ralitza Gavrilova, Dusica Babovic-Vuksanovic, Ethylin Jabs

    Published in Genetics in Medicine Open (2025-01-01)
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