检索结果 - Carl Baker

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  1. 1
    A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog

    A high-resolution integrated map of copy number polymorphisms within and between breeds of the modern domesticated dog 由 Thomas J. Nicholas, Carl Baker, Evan E. Eichler, Joshua M. Akey

    出版 2011
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  2. 2
    Inhibition of Neurotransmission by Peptides Containing the Synaptic Protein Interaction Site of N-Type Ca2+ Channels

    Inhibition of Neurotransmission by Peptides Containing the Synaptic Protein Interaction Site of N-Type Ca2+ Channels 由 Sumiko Mochida, Zu-Hang Sheng, Carl Baker, Haruo Kobayashi, William A. Catterall

    出版 1996
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  3. 3
    The variability in activity of the universally expressed human cytomegalovirus immediate early gene 1 enhancer/promoter in transgenic mice

    The variability in activity of the universally expressed human cytomegalovirus immediate early gene 1 enhancer/promoter in transgenic mice 由 Priscilla A. Furth, Lothar Hennighausen, Carl Baker, Barbara R. Beatty, Rick Woycick

    出版 1991
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  4. 4
    Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV

    Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV 由 Michael H. Duyzend, Xander Nuttle, Bradley P. Coe, Carl Baker, Deborah A. Nickerson, Raphael Bernier, Evan E. Eichler

    出版 2015
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  5. 5
    A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

    A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease 由 Heather C Mefford, Gregory M. Cooper, Troy Zerr, Joshua D. Smith, Carl Baker, Neil Shafer, Erik C. Thorland, Cindy Skinner, Charles E. Schwartz, Deborah A. Nickerson, Evan E. Eichler

    出版 2009
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  6. 6
    Personalized copy number and segmental duplication maps using next-generation sequencing

    Personalized copy number and segmental duplication maps using next-generation sequencing 由 Can Alkan, Jeffrey M. Kidd, Tomàs Marquès‐Bonet, Gozde Aksay, Francesca Antonacci, Fereydoun Hormozdiari, Jacob O. Kitzman, Carl Baker, Maika Malig, Onur Mutlu, S. Cenk Şahinalp, Richard A. Gibbs, Evan E. Eichler

    出版 2009
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  7. 7
    The birth of a human-specific neural gene by incomplete duplication and gene fusion

    The birth of a human-specific neural gene by incomplete duplication and gene fusion 由 Max L. Dougherty, Xander Nuttle, Osnat Penn, Bradley J. Nelson, John Huddleston, Carl Baker, Lana Harshman, Michael H. Duyzend, Mario Ventura, Francesca Antonacci, Richard Sandstrom, Megan Y. Dennis, Evan E. Eichler

    出版 2017
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  8. 8
    Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

    Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder 由 Santhosh Girirajan, Megan Y. Dennis, Carl Baker, Maika Malig, Bradley P. Coe, Colin Campbell, Kenneth M. K. Mark, Tiffany Vu, Can Alkan, Ze Cheng, Leslie G. Biesecker, Raphael Bernier, Evan E. Eichler

    出版 2013
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  9. 9
    Excess of rare, inherited truncating mutations in autism

    Excess of rare, inherited truncating mutations in autism 由 Niklas Krumm, Tychele N. Turner, Carl Baker, Laura Vives, Kiana Mohajeri, Kali Witherspoon, Archana N. Raja, Bradley P. Coe, Holly A.F. Stessman, Zong-Xiao He, Suzanne M. Leal, Raphael Bernier, Evan E. Eichler

    出版 2015
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  10. 10
    Recurrent de novo mutations implicate novel genes underlying simplex autism risk

    Recurrent de novo mutations implicate novel genes underlying simplex autism risk 由 Brian J. O’Roak, Holly A.F. Stessman, Evan A. Boyle, Kali Witherspoon, Beth Martin, C. Lee, Laura Vives, Carl Baker, Joseph B. Hiatt, D. A. Nickerson, Raphael Bernier, Jay Shendure, Evan E. Eichler

    出版 2014
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  11. 11
    Copy number variation analysis in the great apes reveals species-specific patterns of structural variation

    Copy number variation analysis in the great apes reveals species-specific patterns of structural variation 由 Élodie Gazave, Fleur Darré, Carlos Morcillo-Suárez, Natalia Petit‐Marty, A. Carreno, Urko M. Marigorta, Oliver A. Ryder, Antoine Blancher, Mariano Rocchi, Elena Bosch, Carl Baker, Tomàs Marquès‐Bonet, Evan E. Eichler, Arcadi Navarro

    出版 2011
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  12. 12
    Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

    Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease 由 Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, R Myers, Paul M. Ridker, Daniel I. Chasman, Heather C. Mefford, Phyllis Ying, Deborah A. Nickerson, Evan E. Eichler

    出版 2009
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  13. 13
    Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

    Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families 由 Hashem Shahin, Tom Walsh, Amal Abu Rayyan, Ming K. Lee, Jake Higgins, Diane E. Dickel, Kristen Lewis, James Thompson, Carl Baker, Alex S. Nord, Sunday M. Stray, David Gurwitz, Karen B. Avraham, Mary‐Claire King, Moien Kanaan

    出版 2009
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  14. 14
    Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

    Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 由 Santhosh Girirajan, Zoran Brkanac, Bradley P. Coe, Carl Baker, Laura Vives, Tiffany Vu, Neil Shafer, Raphael Bernier, Giovanni Battista Ferrero, Margherita Silengo, Stephen T. Warren, Carlos S. Moreno, Marco Fichera, Corrado Romano, Wendy H. Raskind, Evan E. Eichler

    出版 2011
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  15. 15
    Evolution and diversity of copy number variation in the great ape lineage

    Evolution and diversity of copy number variation in the great ape lineage 由 Peter H. Sudmant, John Huddleston, Claudia Rita Catacchio, Maika Malig, LaDeana W. Hillier, Carl Baker, Kiana Mohajeri, Ivanela Kondova, Ronald E. Bontrop, Stephan P. Persengiev, Francesca Antonacci, Mario Ventura, Javier Prado-Martinez, Tomàs Marquès‐Bonet, Evan E. Eichler

    出版 2013
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  16. 16
    Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

    Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes 由 Hui Guo, Michael H. Duyzend, Bradley P. Coe, Carl Baker, Kendra Hoekzema, Jennifer Gerdts, Tychele N. Turner, Michael C. Zody, Jennifer S. Beighley, Shwetha C. Murali, Bradley J. Nelson, Michael J. Bamshad, Deborah A. Nickerson, Raphael Bernier, Evan E. Eichler

    出版 2018
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  17. 17
    Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies 由 Heather C. Mefford, Hiltrud Muhle, P Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, André Franke, Alain Malafosse, Pierre Genton, Pierre Thomas, Christina A. Gurnett, Stefan Schreiber, Alexander G. Bassuk, Michel Guipponi, Ulrich Stephani, Katherine L. Helbig, Evan E. Eichler

    出版 2010
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  18. 18
    Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

    Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations 由 Brian J. O’Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J. Schwartz, Santhosh Girirajan, Emre Karakoç, Alexandra P MacKenzie, Sarah Ng, Carl Baker, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Simon E. Fisher, Jay Shendure, Evan E. Eichler

    出版 2011
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  19. 19
    Global increases in both common and rare copy number load associated with autism

    Global increases in both common and rare copy number load associated with autism 由 Santhosh Girirajan, Rebecca L. Johnson, Flora Tassone, Jorune Balciuniene, Neerja Katiyar, Keolu Fox, Carl Baker, Abhinaya Srikanth, Kian Hui Yeoh, Su Jen Khoo, Therese B. Nauth, Robin Hansen, Marylyn D. Ritchie, Irva Hertz‐Picciotto, Evan E. Eichler, Isaac N. Pessah, Scott B. Selleck

    出版 2013
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  20. 20
    Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

    Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region 由 Kiana Mohajeri, Stuart Cantsilieris, John Huddleston, Bradley J. Nelson, Bradley P. Coe, Catarina D. Campbell, Carl Baker, Lana Harshman, Katherine M. Munson, Zev Kronenberg, Milinn Kremitzki, Archana N. Raja, Claudia Rita Catacchio, Tina Graves, Richard K. Wilson, Mario Ventura, Evan E. Eichler

    出版 2016
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