Hasil Pencarian - Elizabeth Spiteri

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  1. 1
    P253: Evaluating the clinical diagnostic yield of fragile X and chromosome microarray testing for patients with autism and/or intellectual disability

    P253: Evaluating the clinical diagnostic yield of fragile X and chromosome microarray testing for patients with autism and/or intellectual disability oleh S.Y. Cindy Yang, Emily Dunn, Elizabeth Spiteri, Dena Matalon

    Diterbitkan 2024-01-01
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  2. 2
    P590: Evaluating technical and analytical validity of the Illumina Infinium Global Diversity Array with Cytogenetics (GDACyto) for clinical testing

    P590: Evaluating technical and analytical validity of the Illumina Infinium Global Diversity Array with Cytogenetics (GDACyto) for clinical testing oleh Shih Yu Cindy Yang, Jason Erdmann, Elizabeth Spiteri, Leena Borkar

    Diterbitkan 2023-01-01
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  3. 3
    Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing

    Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing oleh Yu Hou, Linlin Shao, Hai Zhou, Yanfeng Liu, Dianna G. Fisk, Elizabeth Spiteri, James L. Zehnder, Jun Peng, Bing M. Zhang, Ming Hou

    Diterbitkan 2021-11-01
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  4. 4
    Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

    Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders oleh Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

    Diterbitkan 2024-02-01
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  5. 5
    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action oleh Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative

    Diterbitkan 2024-03-01
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  6. 6
    Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain.

    Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. oleh Sonja C Vernes, Peter L Oliver, Elizabeth Spiteri, Helen E Lockstone, Rathi Puliyadi, Jennifer M Taylor, Joses Ho, Cedric Mombereau, Ariel Brewer, Ernesto Lowy, Jérôme Nicod, Matthias Groszer, Dilair Baban, Natasha Sahgal, Jean-Baptiste Cazier, Jiannis Ragoussis, Kay E Davies, Daniel H Geschwind, Simon E Fisher

    Diterbitkan 2011-07-01
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  7. 7
    Performance of MYC, BCL2, and BCL6 break-apart FISH in small biopsies with large B-cell lymphoma: a retrospective Cytopathology Hematopathology Interinstitutional Consortium study

    Performance of MYC, BCL2, and BCL6 break-apart FISH in small biopsies with large B-cell lymphoma: a retrospective Cytopathology Hematopathology Interinstitutional Consortium study oleh Joshua R. Menke, Umut Aypar, Charles D. Bangs, Stephen L. Cook, Srishti Gupta, Srishti Gupta, Robert P. Hasserjian, Christina S. Kong, Oscar Lin, Steven R. Long, Amy Ly, Jacob A. S. Menke, Yasodha Natkunam, Roberto Ruiz-Cordero, Roberto Ruiz-Cordero, Elizabeth Spiteri, Julia Ye, Sara L. Zadeh, Dita A. Gratzinger

    Diterbitkan 2024-06-01
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  8. 8
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing oleh Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative*

    Diterbitkan 2022-04-01
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  9. 9
    The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

    The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors oleh Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams

    Diterbitkan 2024-01-01
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  10. 10
    Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy

    Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy oleh Victoria N. Parikh, Alexander G. Ioannidis, David Jimenez-Morales, John E. Gorzynski, Hannah N. De Jong, Xiran Liu, Jonasel Roque, Victoria P. Cepeda-Espinoza, Kazutoyo Osoegawa, Chris Hughes, Shirley C. Sutton, Nathan Youlton, Ruchi Joshi, David Amar, Yosuke Tanigawa, Douglas Russo, Justin Wong, Jessie T. Lauzon, Jacob Edelson, Daniel Mas Montserrat, Yongchan Kwon, Simone Rubinacci, Olivier Delaneau, Lorenzo Cappello, Jaehee Kim, Massa J. Shoura, Archana N. Raja, Nathaniel Watson, Nathan Hammond, Elizabeth Spiteri, Kalyan C. Mallempati, Gonzalo Montero-Martín, Jeffrey Christle, Jennifer Kim, Anna Kirillova, Kinya Seo, Yong Huang, Chunli Zhao, Sonia Moreno-Grau, Steven G. Hershman, Karen P. Dalton, Jimmy Zhen, Jack Kamm, Karan D. Bhatt, Alina Isakova, Maurizio Morri, Thanmayi Ranganath, Catherine A. Blish, Angela J. Rogers, Kari Nadeau, Samuel Yang, Andra Blomkalns, Ruth O’Hara, Norma F. Neff, Christopher DeBoever, Sándor Szalma, Matthew T. Wheeler, Christian M. Gates, Kyle Farh, Gary P. Schroth, Phil Febbo, Francis deSouza, Omar E. Cornejo, Marcelo Fernandez-Vina, Amy Kistler, Julia A. Palacios, Benjamin A. Pinsky, Carlos D. Bustamante, Manuel A. Rivas, Euan A. Ashley

    Diterbitkan 2022-08-01
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