檢索結果 - Jessica X. Chong

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  1. 1
    Mendelian Gene Discovery: Fast and Furious with No End in Sight

    Mendelian Gene Discovery: Fast and Furious with No End in Sight 由 Michael J. Bamshad, Deborah A. Nickerson, Jessica X. Chong

    出版 2019
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  2. 2
    Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

    Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways 由 Hudson H. Freeze, Jessica X. Chong, Michael J. Bamshad, Bobby G. Ng

    出版 2014
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    Revisão
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  3. 3
    A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population

    A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population 由 Jessica X. Chong, Rebecca Ouwenga, Rebecca L. Anderson, Darrel Waggoner, Carole Ober

    出版 2012
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  4. 4
    High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report

    High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report 由 Vanessa Ogueri, Jessica X. Chong, Melissa Fleming, Kara Simpson, Elizabeth D. Sherwin, Diana Bharucha‐Goebel, Christopher F. Spurney

    出版 2025
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  5. 5
    Homozygous Founder Mutation in Desmocollin-2 ( <i>DSC2</i> ) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population

    Homozygous Founder Mutation in Desmocollin-2 ( <i>DSC2</i> ) Causes Arrhythmogenic Cardiomyopathy in the Hutterite Population 由 Brenda Gerull, Florian Kirchner, Jessica X. Chong, Julia Tagoe, Kumaran Chandrasekharan, Oliver Strohm, Darrel Waggoner, Carole Ober, Henry J. Duff

    出版 2013
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  6. 6
    Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications

    Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications 由 Seema M. Jamal, Joon‐Ho Yu, Jessica X. Chong, Karin M. Dent, Jessie H. Conta, Holly K. Tabor, Michael J. Bamshad

    出版 2013
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  7. 7
    Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i>

    Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes <i>TSR2</i> and <i>RPS28</i> 由 Karen W. Gripp, Cynthia J. Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica X. Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L. Stabley, Katia Sol‐Church

    出版 2014
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  8. 8
    Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

    Genetic analysis of CHARGE syndrome identifies overlapping molecular biology 由 Amanda Moccia, Anshika Srivastava, Jennifer Skidmore, John Bernat, Marsha M. Wheeler, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Margaret A. Hefner, Donna M. Martin, Stephanie Bielas

    出版 2018
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  9. 9
    Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

    Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features 由 Jessica X. Chong, Joon‐Ho Yu, Peter Lorentzen, Karen M. Park, Seema M. Jamal, Holly K. Tabor, Anita Rauch, Margarita Sáenz, Eugen Boltshauser, Karynne Patterson, Deborah A. Nickerson, Michael J. Bamshad

    出版 2015
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  10. 10
    Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results

    Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results 由 Holly K. Tabor, Paul L. Auer, Seema M. Jamal, Jessica X. Chong, Joon‐Ho Yu, Allan Gordon, Timothy A. Graubert, Christopher J. O’Donnell, Stephen S. Rich, Deborah A. Nickerson, Michael J. Bamshad

    出版 2014
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  11. 11
    Matchmaker Exchange

    Matchmaker Exchange 由 Nara Sobreira, Harindra Arachchi, Orion J. Buske, Jessica X. Chong, Ben Hutton, Julia Foreman, François Schiettecatte, Tudor Groza, Julius O.B. Jacobsen, Melissa Haendel, Kym M. Boycott, Ada Hamosh, Heidi L. Rehm

    出版 2017
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  12. 12
    Estimating the human mutation rate using autozygosity in a founder population

    Estimating the human mutation rate using autozygosity in a founder population 由 Catarina D. Campbell, Jessica X. Chong, Maika Malig, Arthur Ko, Beth L. Dumont, Lide Han, Laura Vives, Brian J. O’Roak, Peter H. Sudmant, Jay Shendure, Mark Abney, Carole Ober, Evan E. Eichler

    出版 2012
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  13. 13
    Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

    Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis 由 Mary J. Emond, Tin Louie, Julia Emerson, Jessica X. Chong, Rasika A. Mathias, Michael R. Knowles, Mark J. Rieder, Holly K. Tabor, Debbie A. Nickerson, Kathleen C. Barnes, Lung Go, Ronald L. Gibson, Michael J. Bamshad

    出版 2015
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  14. 14
    Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

    Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 由 Minal Çalışkan, Jessica X. Chong, Lawrence H. Uricchio, Rebecca L. Anderson, Peixian Chen, Carrie Sougnez, Kiran Garimella, Stacey Gabriel, Mark A. DePristo, Khalid Shakir, Dietrich Matern, Soma Das, Darrel Waggoner, Dan L. Nicolae, Carole Ober

    出版 2011
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  15. 15
    Variant‐level matching for diagnosis and discovery: Challenges and opportunities

    Variant‐level matching for diagnosis and discovery: Challenges and opportunities 由 Eliete da S. Rodrigues, Sean Griffith, Renan Paulo Martin, Corina Antonescu, Jennifer E. Posey, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Assaf Sheffer, Jessica X. Chong, Yaron Einhorn, Miro Cupak, Nara Sobreira

    出版 2022
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  16. 16
    Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

    Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy 由 Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern‐Holmes, Zara Richmond, Michael J. Bamshad, Xilma R. Ortiz‐González, Marco Tartaglia, Maya Chopra, Dan Doherty

    出版 2016
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  17. 17
    Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

    Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation 由 Bobby G. Ng, Kati J. Buckingham, Kimiyo Raymond, Martin Kircher, Emily H. Turner, Miao He, Joshua D. Smith, Alexey M. Eroshkin, Marta Szybowska, Marie E. Losfeld, Jessica X. Chong, Mariya Kozenko, Chumei Li, Marc C. Patterson, Rodney D. Gilbert, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Hudson H. Freeze

    出版 2013
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  18. 18
    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery 由 Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh Carmody, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica Muñoz‐Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    出版 2024
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    Pré-impressão
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  19. 19
    SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

    SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns 由 Tara Wenger, Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe, Kati J. Buckingham, Colby T. Marvin, Kathryn M. Shively, Tamara Bacus, Olivia Sommerland, Kailyn Anderson, Heidi Gildersleeve, Chayna Davis, Jamie Love‐Nichols, Katherine E. MacDuffie, Danny E. Miller, Joon‐Ho Yu, Amy Snook, Britt Johnson, David L. Veenstra, Julia Parish-Morris, Kirsty McWalter, Kyle Retterer, Deborah Copenheaver, Bethany Friedman, Jane Juusola, Erin Ryan, Renee Varga, Dan Doherty, Katrina M. Dipple, Jessica X. Chong, Paul Kruszka, Michael J. Bamshad

    出版 2025
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  20. 20
    Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

    Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability 由 Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong, Jürgen‐Christoph von Kleist-Retzow, Daniela Stanga, Yun Li, François Bernier, Catrina M. Loucks, Radu Wirth, Erik G. Puffenberger, Robert A. Hegele, Julia Schreml, Gabriel Lapointe, Katharina Keupp, Christopher L. Brett, Rebecca L. Anderson, Andreas Hahn, A. Micheil Innes, Oksana Suchowersky, Marilyn B. Mets, Gudrun Nürnberg, D. Ross McLeod, Hölger Thiele, Darrel Waggoner, Janine Altmüller, Kym M. Boycott, Benedikt Schoser, Peter Nürnberg, Carole Ober, Raoul Heller, Jillian S. Parboosingh, Bernd Wollnik, Michael Sacher, Ryan E. Lamont

    出版 2013
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