檢索結果 - Timothy W. Yu

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  1. 1
    The Netrin Receptor UNC-40/DCC Stimulates Axon Attraction and Outgrowth through Enabled and, in Parallel, Rac and UNC-115/AbLIM

    The Netrin Receptor UNC-40/DCC Stimulates Axon Attraction and Outgrowth through Enabled and, in Parallel, Rac and UNC-115/AbLIM 由 Zemer Gitai, Timothy W. Yu, Erik A. Lundquist, Marc Tessier‐Lavigne, Cornelia I. Bargmann

    出版 2003
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  2. 2
    Dentate Granule Cell Neurogenesis Is Increased by Seizures and Contributes to Aberrant Network Reorganization in the Adult Rat Hippocampus

    Dentate Granule Cell Neurogenesis Is Increased by Seizures and Contributes to Aberrant Network Reorganization in the Adult Rat Hippocampus 由 Jack M. Parent, Timothy W. Yu, Rebecca T. Leibowitz, Daniel H. Geschwind, Robert S. Sloviter, Daniel H. Lowenstein

    出版 1997
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  3. 3
    Integrating rapid exome sequencing into NICU clinical care after a pilot research study

    Integrating rapid exome sequencing into NICU clinical care after a pilot research study 由 Alissa M. D’Gama, Maya C. del Rosario, Mairead Bresnahan, Timothy W. Yu, Monica H. Wojcik, Pankaj B. Agrawal

    出版 2022
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  4. 4
    Multi-omic analysis of the ciliogenic transcription factor RFX3 reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons

    Multi-omic analysis of the ciliogenic transcription factor RFX3 reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons 由 Jenny Lai, Didem Demirbas, Kaitlyn Phillips, Boxun Zhao, H Wallace, Megan Seferian, Tojo Nakayama, Holly K. Harris, Aikaterini Chatzipli, Eunjung Alice Lee, Timothy W. Yu

    出版 2025
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  5. 5
    C. elegans Slit Acts in Midline, Dorsal-Ventral, and Anterior-Posterior Guidance via the SAX-3/Robo Receptor

    C. elegans Slit Acts in Midline, Dorsal-Ventral, and Anterior-Posterior Guidance via the SAX-3/Robo Receptor 由 Joe C. Hao, Timothy W. Yu, Kazuko Fujisawa, Joseph G. Culotti, Keiko Gengyo‐Ando, Shohei Mitani, Gary Moulder, Robert Barstead, Marc Tessier‐Lavigne, Cornelia I. Bargmann

    出版 2001
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  6. 6
    Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

    Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Gen... 由 Kandamurugu Manickam, Monica R. McClain, Laurie Demmer, Sawona Biswas, Hutton M. Kearney, Jennifer Malinowski, Lauren Massingham, Danny E. Miller, Timothy W. Yu, Fuki M. Hisama

    出版 2021
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  7. 7
    Consensus Guidelines for the Design and <i>In Vitro</i> Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

    Consensus Guidelines for the Design and <i>In Vitro</i> Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides 由 Annemieke Aartsma‐Rus, Alejandro Garanto, Willeke M. C. van Roon‐Mom, Erin M. McConnell, Victoria Suslovitch, Winston X. Yan, Jonathan K. Watts, Timothy W. Yu

    出版 2022
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  8. 8
    Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

    Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism 由 Maria H. Chahrour, Timothy W. Yu, Elaine T. Lim, Bulent Ataman, Michael E. Coulter, Robert Hill, Christine Stevens, Christian Schubert, Michael E. Greenberg, Stacey Gabriel, Christopher A. Walsh

    出版 2012
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  9. 9
    ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia

    ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia 由 Jenny Lai, Didem Demirbas, Junho Kim, Ailsa M. Jeffries, Allie Tolles, Junseok Park, Thomas W. Chittenden, Patrick G. Buckley, Timothy W. Yu, Michael A. Lodato, Eunjung Alice Lee

    出版 2023
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  10. 10
    Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

    Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition 由 Catherine A. Brownstein, Meghan C. Towne, Lovelace J. Luquette, D. James Harris, Nicholas S. Marinakis, Peter Meinecke, Kerstin Kutsche, Philippe M. Campeau, Timothy W. Yu, David Margulies, Pankaj B. Agrawal, Alan H. Beggs

    出版 2013
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  11. 11
    A curated gene list for reporting results of newborn genomic sequencing

    A curated gene list for reporting results of newborn genomic sequencing 由 Ozge Ceyhan‐Birsoy, Kalotina Machini, Matthew S. Lebo, Timothy W. Yu, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy L. McGuire, Robert C. Green, Alan H. Beggs, Heidi L. Rehm

    出版 2017
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  12. 12
    <i>BRAT1</i> mutations present with a spectrum of clinical severity

    <i>BRAT1</i> mutations present with a spectrum of clinical severity 由 Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn A. Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W. Yu, David T. Miller, Janet S. Soul, Andrea Poretti, SakkuBai Naidu

    出版 2016
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  13. 13
    Infant mortality: the contribution of genetic disorders

    Infant mortality: the contribution of genetic disorders 由 Monica H. Wojcik, Talia S. Schwartz, Katri Thiele, Heather Paterson, Rachel Stadelmaier, Thomas E. Mullen, Grace E. VanNoy, Casie A. Genetti, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Wen‐Hann Tan, Pankaj B. Agrawal

    出版 2019
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  14. 14
    POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

    POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations 由 Stefania Di Costanzo, Anuradha Balasubramanian, Heather L. Pond, Anete Rozkalne, Chiara Pantaleoni, S. Saredi, Vandana Gupta, Christine Sunu, Timothy W. Yu, Peter B. Kang, Mustafa A. Salih, Marina Mora, Emanuela Gussoni, Christopher A. Walsh, M. Chiara Manzini

    出版 2014
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  15. 15
    Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

    Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate 由 Divya Jayaraman, Andrew Kodani, Dilenny M. Gonzalez, Joseph D. Mancias, Ganeshwaran H. Mochida, Cristiana Vagnoni, Jeffrey R. Johnson, Nevan J. Krogan, J. Wade Harper, Jeremy F. Reiter, Timothy W. Yu, Byoung-Il Bae, Christopher A. Walsh

    出版 2016
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  16. 16
    Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

    Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication 由 Andrew Kodani, Timothy W. Yu, Jeffrey R. Johnson, Divya Jayaraman, Tasha L. Johnson, Lihadh Al‐Gazali, László Sztriha, Jennifer N. Partlow, Hanjun Kim, Alexis Leigh Krup, Alexander Dammermann, Nevan J. Krogan, Christopher A. Walsh, Jeremy F. Reiter

    出版 2015
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  17. 17
    Recessive gene disruptions in autism spectrum disorder

    Recessive gene disruptions in autism spectrum disorder 由 Ryan N. Doan, Elaine T. Lim, Silvia De Rubeis, Catalina Betancur, David J. Cutler, Andreas G. Chiocchetti, Lynne M. Overman, Aubrie Soucy, Susanne Goetze, Christine M. Freitag, Mark J. Daly, Christopher A. Walsh, Joseph D. Buxbaum, Timothy W. Yu

    出版 2019
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  18. 18
    Are we prepared to deliver gene‐targeted therapies for rare diseases?

    Are we prepared to deliver gene‐targeted therapies for rare diseases? 由 Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi C. MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B. Gold, Annie Kennedy, Priya S. Kishnani, Matthew Might, Philip J. Brooks, Jill A. Morris, Melissa A. Parisi, Tiina K. Urv

    出版 2023
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  19. 19
    Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

    Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture 由 Timothy W. Yu, Ganeshwaran H. Mochida, David J. Tischfield, Sema K. Sgaier, Laura Flores‐Sarnat, Consolato Sergi, Meral Topçu, Marie McDonald, Brenda J. Barry, Jillian M. Felie, Christine Sunu, William B. Dobyns, Rebecca D. Folkerth, A. James Barkovich, Christopher A. Walsh

    出版 2010
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  20. 20
    A novel de novo mutation in<i>ATP1A3</i>and childhood-onset schizophrenia

    A novel de novo mutation in<i>ATP1A3</i>and childhood-onset schizophrenia 由 Niklas Smedemark-Margulies, Catherine A. Brownstein, Sigella Vargas, Sahil Tembulkar, Meghan C. Towne, Jiahai Shi, Elisa Gonzalez-Cuevas, Kevin X. Liu, Kaya Bilgüvar, Robin J. Kleiman, Min‐Joon Han, Alcy Torres, Gerard T. Berry, Timothy W. Yu, Alan H. Beggs, Pankaj B. Agrawal, Joseph Gonzalez‐Heydrich

    出版 2016
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