检索结果 - Elizabeth Spiteri

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  1. 1
    Birdsong Decreases Protein Levels of FoxP2, a Molecule Required for Human Speech

    Birdsong Decreases Protein Levels of FoxP2, a Molecule Required for Human Speech 由 Julie E. Miller, Elizabeth Spiteri, Michael Condro, Ryan T. Dosumu-Johnson, Daniel H. Geschwind, Stephanie A. White

    出版 2008
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  2. 2
    High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes

    High concentrations of long interspersed nuclear element sequence distinguish monoallelically expressed genes 由 Elena A. Allen, Steve Horvath, Frances Tong, Peter Kraft, Elizabeth Spiteri, Arthur D. Riggs, York Marahrens

    出版 2003
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  3. 3
    AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation

    AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation 由 Lisa Edelmann, Elizabeth Spiteri, Kobe Koren, Venkat Pulijaal, Martin G. Bialer, Alan Shanske, Rosalie Goldberg, Bernice E. Morrow

    出版 2001
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  4. 4
    High-Throughput Analysis of Promoter Occupancy Reveals Direct Neural Targets of FOXP2, a Gene Mutated in Speech and Language Disorders

    High-Throughput Analysis of Promoter Occupancy Reveals Direct Neural Targets of FOXP2, a Gene Mutated in Speech and Language Disorders 由 Sonja C. Vernes, Elizabeth Spiteri, Jérôme Nicod, Matthias Groszer, Jennifer M. Taylor, Kay E. Davies, Daniel H. Geschwind, Simon E. Fisher

    出版 2007
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  5. 5
    Identification of the Transcriptional Targets of FOXP2, a Gene Linked to Speech and Language, in Developing Human Brain

    Identification of the Transcriptional Targets of FOXP2, a Gene Linked to Speech and Language, in Developing Human Brain 由 Elizabeth Spiteri, Geneviève Konopka, Giovanni Coppola, Jamee M. Bomar, Michael C. Oldham, Jing Ou, Sonja C. Vernes, Simon E. Fisher, Bing Ren, Daniel H. Geschwind

    出版 2007
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  6. 6
    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 由 Kristen Wigby, Deanna Brockman, Gregory Costain, Caitlin L. Hale, Stacie L. Taylor, John W. Belmont, David Bick, David Dimmock, Susan Fernbach, John M. Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

    出版 2024
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  7. 7
    Cyclin E1 and RTK/RAS signaling drive CDK inhibitor resistance via activation of E2F and ETS

    Cyclin E1 and RTK/RAS signaling drive CDK inhibitor resistance via activation of E2F and ETS 由 Barbie Taylor‐Harding, Paul‐Joseph Aspuria, Hasmik Agadjanian, Dong‐Joo Cheon, Takako Mizuno, Danielle Greenberg, Jenieke R. Allen, Lindsay Spurka, Vincent Funari, Elizabeth Spiteri, Qiang Wang, Sandra Oršulić, Christine Walsh, Beth Y. Karlan, W. Ruprecht Wiedemeyer

    出版 2014
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  8. 8
    Foxp2 Regulates Gene Networks Implicated in Neurite Outgrowth in the Developing Brain

    Foxp2 Regulates Gene Networks Implicated in Neurite Outgrowth in the Developing Brain 由 Sonja C. Vernes, Peter L. Oliver, Elizabeth Spiteri, Helen Lockstone, Rathi Puliyadi, Jennifer M. Taylor, Joses Ho, Cédric 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

    出版 2011
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  9. 9
    Best practices for the interpretation and reporting of clinical whole genome sequencing

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

    出版 2022
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    Revisão
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  10. 10
    Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

    Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay 由 Uirá Souto Melo, Devon Bonner, K. C. Kent Lloyd, Ala Moshiri, Brandon Willis, Louise Lanoue, Lynette Bower, Brian C. Leonard, Davi Jardim Martins, Fernando Gomes, Felipe de Souza Leite, Danyllo Oliveira, João Paulo Kitajima, Fabíola Paoli Monteiro, Mayana Zatz, Carlos Frederico Martins Menck, Matthew T. Wheeler, Jonathan A. Bernstein, Kevin Dumas, Elizabeth Spiteri, Nataliya Di Donato, Arne Jahn, Mais Hashem, Hessa S. Alsaif, Aziza Chedrawi, Fowzan S. Alkuraya, Fernando Kok, Heather M. Byers

    出版 2021
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  11. 11
    Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

    Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing 由 Sneha D. Goenka, John E. Gorzynski, Kishwar Shafin, Dianna G. Fisk, Trevor Pesout, Tanner Jensen, Jean Monlong, Pi-Chuan Chang, Gunjan Baid, Jonathan A. Bernstein, Jeffrey W. Christle, Karen Dalton, Daniel R. Garalde, Megan E. Grove, Joseph Guillory, Alexey Kolesnikov, Maria Nattestad, Maura Ruzhnikov, Mehrzad Samadi, Ankit Sethia, Elizabeth Spiteri, Christopher J. Wright, Katherine Xiong, Tong Zhu, Miten Jain, Fritz J. Sedlazeck, Andrew Carroll, Benedict Paten, Euan A. Ashley

    出版 2022
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  12. 12
    Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting

    Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting 由 John E. Gorzynski, Sneha D. Goenka, Kishwar Shafin, Tanner Jensen, Dianna G. Fisk, Megan E. Grove, Elizabeth Spiteri, Trevor Pesout, Jean Monlong, Gunjan Baid, Jonathan A. Bernstein, Scott R. Ceresnak, Pi-Chuan Chang, Jeffrey W. Christle, Henry Chubb, Karen Dalton, Kyla Dunn, Daniel R. Garalde, Joseph Guillory, Joshua W. Knowles, Alexey Kolesnikov, Michael Ma, Tia Moscarello, Maria Nattestad, Marco Pérez, Maura Ruzhnikov, Mehrzad Samadi, Ankit Setia, Chris Wright, Courtney J. Wusthoff, Katherine Xiong, Tong Zhu, Miten Jain, Fritz J. Sedlazeck, Andrew Carroll, Benedict Paten, Euan A. Ashley

    出版 2022
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    Carta
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  13. 13
    Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

    Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export 由 Andrea Legati, Donatella Giovannini, Gaël Nicolas, Uriel López-Sánchez, Beatriz Quintáns, João Ricardo Mendes de Oliveira, Renee Sears, Eliana Marisa Ramos, Elizabeth Spiteri, María-Jesús Sobrido, Ángel Carracedo, Cristina Castro-Fernández, Stéphanie Cubizolle, Brent L. Fogel, Cyril Goizet, Joanna C. Jen, Suppachok Kirdlarp, Anthony E. Lang, Zosia Miedzybrodzka, Witoon Mitarnun, Martin Paucar, Henry L. Paulson, Jérémie Pariente, Anne-Claire Richard, Naomi Salins, Sheila A Simpson, Pasquale Striano, Per Svenningsson, François Tison, Vivek K. Unni, Olivier Vanakker, Marja W. Wessels, Suppachok Wetchaphanphesat, Michele Yang, François Boller, Dominique Campion, Didier Hannequin, Marc Sitbon, Daniel H. Geschwind, Jean‐Luc Battini, Giovanni Coppola

    出版 2015
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  14. 14
    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification 由 Sandy Hsu, Renee Sears, Roberta R. Lemos, Beatriz Quintáns, Alden Huang, Elizabeth Spiteri, Lisette Nevarez, Catherine Mamah, Mayana Zatz, Kerrie D. Pierce, Janice M. Fullerton, John C. Adair, Jon Berner, Matthew Bower, Henry Brodaty, Olga Carmona, Valerija Dobričić, Brent L. Fogel, Daniel García-Estevez, Jill Goldman, John L. Goudreau, Suellen Hopfer, Milena Janković, Serge Jaumà, Joanna C. Jen, Suppachok Kirdlarp, Joerg Klepper, Vladimir Kostić, Anthony E. Lang, Agnès Linglart, Melissa K. Maisenbacher, Bala V. Manyam, Pietro Mazzoni, Z Miedzybrodzka, Witoon Mitarnun, Philip B. Mitchell, Jennifer M. Mueller, Ivana Novaković, Martin Paucar, Henry L. Paulson, Sheila A Simpson, Per Svenningsson, Paul Tuite, Jerrold L. Vitek, Suppachok Wetchaphanphesat, Charles A. Williams, Michele Yang, Peter R. Schofield, João Ricardo Mendes de Oliveira, María-Jesús Sobrido, Daniel H. Geschwind, Giovanni Coppola

    出版 2013
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  15. 15
    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

    Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder 由 Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bézieau, Benjamin Cogné

    出版 2022
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  16. 16
    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change 由 Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm

    出版 2023
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