Výsledky vyhledávání - Michael E. Talkowski

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  1. 1
    Autism Spectrum Disorder Genetics

    Autism Spectrum Disorder Genetics Autor Michael E. Talkowski, Eric Vallabh Minikel, James F. Gusella

    Vydáno 2014
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  2. 2
    Lack of association between VNTR polymorphism of dopamine transporter gene (SLC6A3) and schizophrenia in a Brazilian sample

    Lack of association between VNTR polymorphism of dopamine transporter gene (SLC6A3) and schizophrenia in a Brazilian sample Autor Quirino Cordeiro, Michael E. Talkowski, Joel Wood, Eliza Ikenaga, Homero Vallada

    Vydáno 2004
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  3. 3
    Indexcov: fast coverage quality control for whole-genome sequencing

    Indexcov: fast coverage quality control for whole-genome sequencing Autor Brent S. Pedersen, Ryan L. Collins, Michael E. Talkowski, Aaron R. Quinlan

    Vydáno 2017
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  4. 4
    Association and linkage analysis of <i>RGS4</i> polymorphisms with schizophrenia and bipolar disorder in Brazil

    Association and linkage analysis of <i>RGS4</i> polymorphisms with schizophrenia and bipolar disorder in Brazil Autor Quirino Cordeiro, Michael E. Talkowski, Kodavali V. Chowdari, Joel Wood, Vishwajit L. Nimgaonkar, Homero Vallada

    Vydáno 2004
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  5. 5
    Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis

    Developmental Variability in Autism Across 17 000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis Autor Susan S. Kuo, Celia van der Merwe, Jack Fu, Caitlin E. Carey, Michael E. Talkowski, Somer Bishop, Elise Robinson

    Vydáno 2022
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  6. 6
    Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing

    Low Incidence of Off-Target Mutations in Individual CRISPR-Cas9 and TALEN Targeted Human Stem Cell Clones Detected by Whole-Genome Sequencing Autor Adrian Veres, Bridget S. Gosis, Qiurong Ding, Ryan L. Collins, Ashok Ragavendran, Harrison Brand, Serkan Erdin, Chad A. Cowan, Michael E. Talkowski, Kiran Musunuru

    Vydáno 2014
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  7. 7
    Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature

    Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature Autor Zehra Ordulu, Kristen E. Wong, Benjamin Currall, Andrew R. Ivanov, Shahrin Pereira, Sara Althari, James F. Gusella, Michael E. Talkowski, Cynthia C. Morton

    Vydáno 2014
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  8. 8
    An eMERGE Clinical Center at Partners Personalized Medicine

    An eMERGE Clinical Center at Partners Personalized Medicine Autor Jordan W. Smoller, Elizabeth W. Karlson, Robert C. Green, Sekar Kathiresan, Daniel G. MacArthur, Michael E. Talkowski, Shawn N. Murphy, Scott T. Weiss

    Vydáno 2016
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  9. 9
    TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling

    TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling Autor Pauline Martín, Vilas Wagh, Surya A. Reis, Serkan Erdin, Roberta L. Beauchamp, Ghalib Shaikh, Michael E. Talkowski, Elizabeth A. Thiele, Steven D. Sheridan, Stephen J. Haggarty, Vijaya Ramesh

    Vydáno 2020
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  10. 10
    16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

    16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro Autor Maria Sundberg, Hannah Pinson, Richard S. Smith, Kellen D. Winden, Pooja Venugopal, Derek J.C. Tai, James F. Gusella, Michael E. Talkowski, Christopher A. Walsh, Max Tegmark, Mustafa Şahin

    Vydáno 2021
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  11. 11
    Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

    Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders Autor Alfredo M. Valencia, Akshay Sankar, Pleuntje J. van der Sluijs, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Samantha A. Schrier Vergano, Gijs W.E. Santen, Cigall Kadoch

    Vydáno 2023
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  12. 12
    KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

    KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant Autor Christelle Golzio, Jason R. Willer, Michael E. Talkowski, Edwin C. Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F. Gusella, Atsushi Kamiya, J. Beckmann, Nicholas Katsanis

    Vydáno 2012
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  13. 13
    SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

    SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility Autor Samantha L.P. Schilit, Shreya Menon, Corinna Friedrich, Tammy Kammin, Ellen Wilch, Carrie Hanscom, Sizun Jiang, Sabine Kliesch, Michael E. Talkowski, Frank Tüttelmann, Amy J. MacQueen, Cynthia C. Morton

    Vydáno 2019
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  14. 14
    Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

    Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations Autor Po‐Ru Loh, Giulio Genovese, Robert E. Handsaker, Hilary K. Finucane, Yakir Reshef, Pier Francesco Palamara, Brenda M. Birmann, Michael E. Talkowski, Samuel F. Bakhoum, Steven A. McCarroll, Alkes L. Price

    Vydáno 2018
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  15. 15
    An Ancient, Unified Mechanism for Metformin Growth Inhibition in C. elegans and Cancer

    An Ancient, Unified Mechanism for Metformin Growth Inhibition in C. elegans and Cancer Autor Lianfeng Wu, Ben Zhou, Noriko Oshiro-Rapley, Man Li, João A. Paulo, Christopher M. Webster, Fan Mou, Michael C. Kacergis, Michael E. Talkowski, Christopher E. Carr, Steven P. Gygi, Bin Zheng, Alexander A. Soukas

    Vydáno 2016
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  16. 16
    Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR–Cas9 genome editing

    Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR–Cas9 genome editing Autor Bruna S. Paulsen, Pankaj Kumar Mandal, Richard L. Frock, Bariş Boyraz, Rachita Yadav, Srigokul Upadhyayula, Paula Gutierrez‐Martinez, Wataru Ebina, Anders Fasth, Tomas Kirchhausen, Michael E. Talkowski, Suneet Agarwal, Frederick W. Alt, Derrick J. Rossi

    Vydáno 2017
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  17. 17
    De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

    De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families Autor Jonathan R. Belyeu, Harrison Brand, Harold Wang, Xuefang Zhao, Brent S. Pedersen, Julie Feusier, Meenal Gupta, Thomas J. Nicholas, Joseph Brown, Lisa Baird, Bernie Devlin, Stephan Sanders, Lynn B. Jorde, Michael E. Talkowski, Aaron R. Quinlan

    Vydáno 2021
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  18. 18
    Utility of long-read sequencing for All of Us

    Utility of long-read sequencing for All of Us Autor Medhat Mahmoud, Yongqing Huang, Kiran Garimella, Peter A. Audano, Wei Wan, Nripesh Prasad, Robert E. Handsaker, Steven C. Hall, A. Pionzio, Michael C. Schatz, Michael E. Talkowski, Evan E. Eichler, Shawn Levy, Fritz J. Sedlazeck

    Vydáno 2023
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  19. 19
    Utility of long-read sequencing for All of Us

    Utility of long-read sequencing for All of Us Autor Medhat Mahmoud, Yongqing Huang, Kiran Garimella, Peter A. Audano, Wei Wan, Nripesh Prasad, Robert E. Handsaker, Steven C. Hall, A. Pionzio, Michael C. Schatz, Michael E. Talkowski, Evan E. Eichler, Shawn Levy, Fritz J. Sedlazeck

    Vydáno 2024
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  20. 20
    Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing

    Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing Autor Dahlia Rohm, Joshua B. Black, Sean R. McCutcheon, Alejandro Barrera, Susan A. Berry, Daniel J. Morone, Xander Nuttle, Celine E. de Esch, Derek J.C. Tai, Michael E. Talkowski, Nahid Iglesias, Charles A. Gersbach

    Vydáno 2025
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