Resultats de la cerca - Joy Goffena

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  1. 1
    Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes

    Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes per Cate Paschal, Miranda Galey, Anita Beck, Madelyn A. Gillentine, Jaya Narayanan, Nikhita Damaraju, Joy Goffena, Sophie Storz, Danny E. Miller

    Publicat 2025
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  2. 2
    Elongator and codon bias regulate protein levels in mammalian peripheral neurons

    Elongator and codon bias regulate protein levels in mammalian peripheral neurons per Joy Goffena, Frances Lefcort, Yongqing Zhang, Elin Lehrmann, Marta Chaverra, Jehremy Felig, Joseph Walters, Richard Buksch, Kevin G. Becker, Lynn George

    Publicat 2018
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  3. 3
    Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation

    Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation per Jonas A. Gustafson, Sophia B Gibson, Nikhita Damaraju, Miranda Pg Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A Snead, Phillip A. Richmond, Wouter De Coster, Nathan D. Olson, Andrea Guarracino, Qiuhui Li, Angela L Miller, Joy Goffena, Zachery Anderson, Sophie Storz, S. Ward, Maisha Sinha, Claudia Gonzaga‐Jauregui, Wayne E. Clarke, Anna O. Basile, André Corvelo, Catherine Reeves, Adrienne Helland, Rajeeva Musunuri, Mahler Revsine, Karynne Patterson, Cate Paschal, Christina Zakarian, Sara Goodwin, Tanner Jensen, E. Robb, W. Richard McCombie, Fritz J. Sedlazeck, Justin M. Zook, Stephen B. Montgomery, Erik Garrison, Mikhail Kolmogorov, Michael C. Schatz, Richard N. McLaughlin, Harriet Dashnow, Michael C. Zody, Matthew Loose, Miten Jain, Evan E. Eichler, Danny E. Miller

    Publicat 2024
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  4. 4
    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

    Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement per Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy L. Schneider, Emily Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Galey, Joy Goffena, Sophia B Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman‐Sagie, Kristen Park, Mariëlle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Geneviève, Gaëtan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao‐Tuan Chao, Geoffrey Neale, Gemma L. Carvill, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadiković, Heather C. Mefford

    Publicat 2024
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