Search Results - Benjamin Hilton

  • Showing 1 - 12 results of 12
Refine Results
  1. 1

    6: Exon-level copy-number variants: The penultimate frontier in copy-number analysis? by Timothy Fee, Benjamin Hilton, Barbara DuPont

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  2. 2

    P435: Diagnostic yield and copy number findings from 500 clinical genome sequencing cases by Kameryn Butler, Benjamin Hilton, Timothy Fee, Barbara DuPont

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  3. 3

    Oscillatory chiral flows in confined active fluids with obstacles by Bo Zhang, Benjamin Hilton, Christopher Short, Anton Souslov, Alexey Snezhko

    Published in Physical Review Research (2020-11-01)
    Get full text
    Article


  4. 4

    P782: A complex structural rearrangement resulting in recurrent SCN1A deletion identified by optical genome mapping by Kameryn Butler, Nikhil Sahajpal, Natasha Rudy, Wesley Patterson, Alexandra Finley, Andrew King, Benjamin Hilton

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  5. 5

    15: A search for genetic determinants in neural tube defects using optical genome mapping by Nikhil Shri Sahajpal, Benjamin Hilton, Barbara R. DuPont, Michael J. Friez, Roger E. Stevenson

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  6. 6

    P549: Analysis of challenging products of conception cases with optical genome mapping: A preliminary study by Nikhil Sahajpal, Ashis Mondal, Harmanpreet Singh, Timothy Fee, Fatima Abidi, Benjamin Hilton, Ravindra Kolhe, Barbara DuPont

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  7. 7

    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 in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  8. 8

    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 in Genetics in Medicine Open (2024-01-01)
    Get full text
    Article


  9. 9

    Efficacy of MET-targeting CAR T cells against glioblastoma patient-derived xenograft models by Anna Qin, Anna Musket, Benjamin Hilton, Johanna Preiszner, Giedre Krenciute, Michael E. Berens, Mingyao Ying, Phillip R. Musich, Qian Xie

    Published in Journal of Translational Medicine (2025-04-01)
    Get full text
    Article


  10. 10

    P629: Analytical performance evaluation of whole genome sequencing as first-line genetic testing for intellectual development disorders and congenital malformations* by Peter Bui, Colyn Cain, Julie Cox, Mark Fleharty, Yueyao Gao, Benjamin Hilton, Sean Hofherr, Katie Larkin, Guang Li, David Marsh, Sarah South, Reha Toydemir

    Published in Genetics in Medicine Open (2025-01-01)
    Get full text
    Article


  11. 11

    P485: Evaluating novel dosage sensitivity predictors for inclusion in the classification of recurrent copy number variants by John Herriges, Cassandra Runke, Zoe Lewis, Lucilla Pizzo, Bradley Coe, Laura Conlin, Benjamin Hilton, Brynn Levy, Andrea Vaags, Shulin Zhang, Christa Martin, Erica Andersen

    Published in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


  12. 12

    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 in Genetics in Medicine Open (2023-01-01)
    Get full text
    Article


Search Tools: