Search Results - Eric Fredrickson

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  1. 1

    P613: A multiplexed targeted PCR and single nucleotide extension assay for the 14 most common thanatophoric dysplasia I and II mutations by Mohamed Jama, Scott Reading, Eric Fredrickson, Yuan Ji

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

    P574: Molecular diagnosis of Prader-Willi and Angelman syndromes using methylation-specific MLPA by Jessica Toth, Melinda Procter, Anastasia Pflaum, Eric Fredrickson, Rong Mao

    Published in Genetics in Medicine Open (2023-01-01)
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  3. 3

    P542: Overcoming polymer-induced variation in fragile X and Huntington disease repeat expansion assays by Scott Reading, Mohamed Jama, Pinar Bayrak-Toydemir, Hunter Best, Eric Fredrickson, Makenzie Fulmer, Rong Mao, Sherin Shaaban, Yuan Ji

    Published in Genetics in Medicine Open (2023-01-01)
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  4. 4

    P603: Laboratory testing of CFTR gene in light of evolving professional guidelines and standards for carrier screening: A reference laboratory’s experience by Yuan Ji, Sergio Del Angel, Holly Bethers, Ha Pham, Patti Krautscheid, Sara Clark, Sarah Sibio, Eric Fredrickson, Sherin Shaaban, Rong Mao

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

    P422: Validation of a digital FISH analysis workflow in an academic reference laboratory* by Maria Longhurst, Emily Aston, Jodi Zockle, Wenhua Zhou, Leslie Rowe, Kimberly Frizzell, Eric Fredrickson, Kathryn O'Brien, Marshall Priest, Chantry Clark, Bo Hong, Erica Andersen

    Published in Genetics in Medicine Open (2023-01-01)
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  6. 6

    P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines by Thomas Nicholas, Andrew Farrell, Shawn Rynearson, Carson Holt, Steven Boyden, Barry Moore, Najla Al-Sweel, Christine Miller, Lucilla Pizzo, Chelsea Solorzano, Rachel Palmquist, Ashley Andrews, Rong Mao, Pinar Bayrak-Toydemir, Eric Fredrickson, Katherine Noble, Brian Shayota, Joshua Bonkowsky, John Carey, Sabrina Malone-Jenkins, Lorenzo Botto, Aaron Quinlan

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

    Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia by Thomas J. Nicholas, Najla Al‐Sweel, Andrew Farrell, Rong Mao, Pinar Bayrak‐Toydemir, Christine E. Miller, Dawn Bentley, Rachel Palmquist, Barry Moore, Edgar J. Hernandez, Michael J. Cormier, Eric Fredrickson, Katherine Noble, Shawn Rynearson, Carson Holt, Mary Anne Karren, Joshua L. Bonkowsky, Martin Tristani‐Firouzi, Mark Yandell, Gabor Marth, Aaron R. Quinlan, Luca Brunelli, Reha M. Toydemir, Brian J. Shayota, John C. Carey, Steven E. Boyden, Sabrina Malone Jenkins

    Published in Molecular Genetics & Genomic Medicine (2022-04-01)
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  8. 8

    P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2 by Barry Moore, Thomas Nicholas, Rong Mao, Brian Shayota, Steven Boyden, Chelsea Solorzano, Rachel Palmquist, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Eric Fredrickson, Kelsey Nicholson, David Pattison, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Betsy Ostrander, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky, Sabrina Malone-Jenkins

    Published in Genetics in Medicine Open (2023-01-01)
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  9. 9

    P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care by Sabrina Malone-Jenkins, Brian Shayota, Chelsea Solorzano, Rachel Palmquist, Steven Boyden, Barry Moore, Thomas Nicholas, Rong Mao, Pinar Bayrak-Toydemir, Katherine Noble, Andrew Farrell, Edgar Hernandez, Shawn Rynearson, Carson Holt, Alistair Ward, Najla Al-Sweel, Jian Zhao, Makenzie Fulmer, Lucilla Pizzo, Ting Wen, John O'Shea, Robert Lewis, Hayley Reynolds, Eric Fredrickson, Kelsey Nicholson, David Pattison, Hunter Best, Luca Brunelli, Mark Yandell, Gabor Marth, Aaron Quinlan, John Carey, Martin Tristani-Firouzi, Joshua Bonkowsky

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