Search Results - Barry Moore

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  1. 1

    O15: SimPheny: Automated patient matching for genetic diagnosis in rare disease cohorts by Isabelle Cooperstein, Alistair Ward, Barry Moore, Gabor Marth

    Published in Genetics in Medicine Open (2025-01-01)
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  2. 2

    Health care professionals’ attitudes, behaviours and barriers toward exercise promotion among patients: A systematic review by Pinar Avsar, Zena Moore, Husain Nasaif, Barry Moore, Declan Patton, Tom O’Connor, Vishnu Renjith

    Published in PLoS ONE (2025-01-01)
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  3. 3

    Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins. by Mark Yandell, Barry Moore, Fidel Salas, Chris Mungall, Andrew MacBride, Charles White, Martin G Reese

    Published in PLoS Computational Biology (2008-11-01)
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  4. 4

    TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome. by Pavan Kumar P, Sarah Franklin, Uchenna Emechebe, Hao Hu, Barry Moore, Chris Lehman, Mark Yandell, Anne M Moon

    Published in PLoS Genetics (2014-03-01)
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  5. 5

    The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool by Steven Flygare, Edgar Javier Hernandez, Lon Phan, Barry Moore, Man Li, Anthony Fejes, Hao Hu, Karen Eilbeck, Chad Huff, Lynn Jorde, Martin G. Reese, Mark Yandell

    Published in BMC Bioinformatics (2018-02-01)
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  6. 6

    Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias by Eric L. Bogenschutz, Zac D. Fox, Andrew Farrell, Julia Wynn, Barry Moore, Lan Yu, Gudrun Aspelund, Gabor Marth, Mark Yandell, Yufeng Shen, Wendy K. Chung, Gabrielle Kardon

    Published in HGG Advances (2020-10-01)
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  7. 7

    Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning by Bennet Peterson, Edgar Javier Hernandez, Charlotte Hobbs, Sabrina Malone Jenkins, Barry Moore, Edwin Rosales, Samuel Zoucha, Erica Sanford, Matthew N. Bainbridge, Erwin Frise, Albert Oriol, Luca Brunelli, Stephen F. Kingsmore, Mark Yandell

    Published in Genome Medicine (2023-03-01)
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  8. 8

    MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission by Bennet Peterson, Edwin F. Juarez, Barry Moore, Edgar Javier Hernandez, Erwin Frise, Jianrong Li, Yves Lussier, Martin Tristani-Firouzi, Martin G. Reese, Sabrina Malone Jenkins, Stephen F. Kingsmore, Matthew N. Bainbridge, Mark Yandell

    Published in npj Genomic Medicine (2025-06-01)
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  9. 9

    P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome by Ting Wen, Hayley Reynolds, Andrew Farrell, Barry Moore, Steven Boyden, Thomas Nicholas, Shawn Rynearson, Carson Holt, Christine Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua Bonkowsky, Brian Shayota, Sabrina Malone-Jenkins, Pinar Bayrak-Toydemir, Rong Mao

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

    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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  11. 11

    A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia by Christopher A. Simeone, Joseph L. Wilkerson, Annelise M. Poss, James A. Banks, Joseph V. Varre, Jose Lazaro Guevara, Edgar Javier Hernandez, Bushra Gorsi, Donald L. Atkinson, Tursun Turapov, Scott G. Frodsham, Julio C. Fierro Morales, Kristina O’Neil, Barry Moore, Mark Yandell, Scott A. Summers, Andrzej S. Krolewski, William L. Holland, Marcus G. Pezzolesi

    Published in npj Genomic Medicine (2022-07-01)
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  12. 12

    P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity by Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

    Published in Genetics in Medicine Open (2023-01-01)
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  13. 13

    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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  14. 14

    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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  15. 15

    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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  16. 16

    The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit by Sabrina Malone Jenkins, Rachel N. Palmquist, Barry Moore, Steven E. Boyden, Thomas J. Nicholas, Pinar Bayrak-Toydemir, Rong Mao, J. Andrew R. Farrell, Carson H. Holt, Shawn G. Rynearson, Chelsea M. Solorzano, Alistair Ward, D. Hunter Best, Najla Al-Sweel, Dawn L. Bentley, Luca Brunelli, Clement Y. Chow, Devin W. Close, Michael J. Cormier, Malia J. Deshotel, Jacob Durtschi, Erik J. Eide, Luaiva Floyd, Eric K. Fredrickson, Makenzie L. Fulmer, Edgar J. Hernandez, Ashley L. Kapron, Mary Anne Karren, Robert G. Lewis, Christine E. Miller, L. Charles Murtaugh, Kelsey E. Nicholson, Katherine Noble, Brendan D. O’Fallon, John M. O’Shea, David C. Pattison, Brent S. Pedersen, Brandy J. Petersen, Bennet D. Peterson, Lucilla Pizzo, Hayley M. Reynolds, Paul Rindler, Carrie B. Torr, Ting Wen, H. Joseph Yost, Jian Zhao, Mark Yandell, Gabor T. Marth, Aaron R. Quinlan, John C. Carey, Brian J. Shayota, Martin Tristani-Firouzi, Joshua L. Bonkowsky

    Published in npj Genomic Medicine (2025-03-01)
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