Search Results - Britt Johnson

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  1. 1

    STAT3 gain-of-function mutation in a patient with pulmonary Mycobacterium abscessus infection by Miguel S. Gonzalez-Mancera, Britt Johnson, Mehdi Mirsaeidi

    Published in Respiratory Medicine Case Reports (2020-01-01)
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  2. 2

    P067: A descriptive study of the phenotype in individuals with a pathogenic/likely pathogenic intronic variant discovered by RNA sequencing* by Lindsay Fosler, Brandie Heald, Elaine Chen, Britt Johnson

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

    P685: Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories by Christopher Tan, Karen Ouyang, Audrey O'Neill, Britt Johnson, Keith Nykamp

    Published in Genetics in Medicine Open (2024-01-01)
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  4. 4

    P071: Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories by Sarah Hamilton, Lindsay Fosler, Daniel Pineda-Alvarez, Britt Johnson, Keith Nykamp

    Published in Genetics in Medicine Open (2024-01-01)
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  5. 5

    O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals by Britt Johnson, Yuya Kobayashi, Elaine Chen, Dan Swartzlander, Flavia Facio, Swaroop Aradhya

    Published in Genetics in Medicine Open (2024-01-01)
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  6. 6

    P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpret... by Jason Reuter, Yuya Kobayashi, Flavia Facio, Swaroop Aradhya, Britt Johnson, Alex Colavin, Keith Nykamp

    Published in Genetics in Medicine Open (2023-01-01)
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  7. 7

    P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification by David Stafford, Jason Reuter, Samskruthi Padigepati, Flavia Facio, Michael Korn, Britt Johnson, Keith Nykamp

    Published in Genetics in Medicine Open (2024-01-01)
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  8. 8

    P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing* by Toby Manders, Yuya Kobayashi, Alex Wahl, Baxter Eaves, Flavia Facio, Michael Korn, Britt Johnson, Keith Nykamp

    Published in Genetics in Medicine Open (2024-01-01)
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  9. 9

    P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation by Toby Manders, Yuya Kobayashi, John Nicoludis, Arun Numpally, Flavia Facio, Britt Johnson, Keith Nykamp, Robert Nussbaum, Alex Colavin

    Published in Genetics in Medicine Open (2023-01-01)
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  10. 10

    P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations by Britt Johnson, Ana Morales, Flavia Facio, Laure Fresard, Dianalee McKnight, Yuya Kobayashi, Jason Reuter, Keith Nykamp, Swaroop Aradhya, Alexandre Colavin

    Published in Genetics in Medicine Open (2023-01-01)
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  11. 11

    P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients* by Melanie Napier, Elizabeth Williams, Shamila Yusuff, Adi Reich, Hua Gao, Jacob Zyskind, Julianna Spangler, Katie Schafer, Bethany Friedman, Paul Kruszka, Joseph Devaney, Britt Johnson

    Published in Genetics in Medicine Open (2025-01-01)
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  12. 12

    O50: Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity in 10,000 exomes and genomes by Vincent Ustach, Maria Guillen Sacoto, Stephen McGee, Vladimir Gainullin, Kevin Arvai, Matthew Greenberg, Nadav Topaz, Francisca Millan Zamora, Kristin Monaghan, Kirsty Mcwalter, Gabriele Richard, Rebecca Torene, Kyle Retterer, Britt Johnson, Timothy Laurent

    Published in Genetics in Medicine Open (2025-01-01)
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  13. 13

    Scalable detection of technically challenging variants through modified next‐generation sequencing by Susan Rojahn, Tina Hambuch, Jessika Adrian, Erik Gafni, Alex Gileta, Hannah Hatchell, Britt Johnson, Ben Kallman, Kate Karfilis, Curtis Kautzer, Michael Kennemer, Lloyd Kirk, Daniel Kvitek, Jessica Lettes, Fenner Macrae, Fernando Mendez, Joshua Paul, Maurizio Pellegrino, Ronny Preciado, Jan Risinger, Matthew Schultz, Lindsay Spurka, Sajani Swamy, Rebecca Truty, Nathan Usem, Andrea Velenich, Swaroop Aradhya

    Published in Molecular Genetics & Genomic Medicine (2022-12-01)
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