検索結果 - Kendra Hoekzema

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  1. 1
    The autism spectrum phenotype in ADNP syndrome

    The autism spectrum phenotype in ADNP syndrome 著者: Anne B. Arnett, Candace Rhoads, Kendra Hoekzema, Tychele N. Turner, Jennifer Gerdts, Arianne S. Wallace, Sandra Bedrosian‐Sermone, Evan E. Eichler, Raphael Bernier

    出版事項 2018
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    Artigo
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  2. 2
    denovo-db: a compendium of human<i>de novo</i>variants

    denovo-db: a compendium of human<i>de novo</i>variants 著者: Tychele N. Turner, Yi Qian, Niklas Krumm, John Huddleston, Kendra Hoekzema, Holly A.F. Stessman, Anna-Lisa Doebley, Raphael Bernier, Deborah A. Nickerson, Evan E. Eichler

    出版事項 2016
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  3. 3
    Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall

    Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall 著者: William T. Harvey, Peter Ebert, Jana Ebler, Peter A. Audano, Katherine M. Munson, Kendra Hoekzema, David Porubský, Christine R. Beck, Tobias Marschall, Kiran Garimella, Evan E. Eichler

    出版事項 2023
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    Artigo
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  4. 4
    Independent expansion, selection and hypervariability of the<i>TBC1D3</i>gene family in humans

    Independent expansion, selection and hypervariability of the<i>TBC1D3</i>gene family in humans 著者: Xavi Guitart, David Porubský, DongAhn Yoo, Max L. Dougherty, Philip C. Dishuck, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, Jordan Knuth, Stephen Chang, Tomi Pastinen, Evan E. Eichler

    出版事項 2024
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    Artigo
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  5. 5
    Genomic Patterns of De Novo Mutation in Simplex Autism

    Genomic Patterns of De Novo Mutation in Simplex Autism 著者: Tychele N. Turner, Bradley P. Coe, Diane E. Dickel, Kendra Hoekzema, Bradley J. Nelson, Michael C. Zody, Zev Kronenberg, Fereydoun Hormozdiari, Archana N. Raja, L Pennacchio, Robert B. Darnell, Evan E. Eichler

    出版事項 2017
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    Artigo
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  6. 6
    A target enrichment bait set for studying relationships among ostariophysan fishes

    A target enrichment bait set for studying relationships among ostariophysan fishes 著者: Brant C. Faircloth, Fernando Alda, Kendra Hoekzema, Michael D. Burns, Cláudio Oliveira, James S. Albert, Bruno Francelino de Melo, Luz E. Ochoa, Fábio Fernandes Roxo, Prosanta Chakrabarty, Brian L. Sidlauskas, Michael E. Alfaro

    出版事項 2018
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  7. 7
    Discovery and genotyping of structural variation from long-read haploid genome sequence data

    Discovery and genotyping of structural variation from long-read haploid genome sequence data 著者: John Huddleston, Mark Chaisson, Karyn Meltz Steinberg, Wes Warren, Kendra Hoekzema, David Gordon, Tina A. Graves-Lindsay, Katherine M. Munson, Zev Kronenberg, Laura Vives, Paul Peluso, Matthew Boitano, Chen-Shin Chin, Jonas Korlach, Richard K. Wilson, Evan E. Eichler

    出版事項 2016
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    Artigo
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  8. 8
    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 著者: 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

    出版事項 2018
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    Artigo
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  9. 9
    Segmental duplications and their variation in a complete human genome

    Segmental duplications and their variation in a complete human genome 著者: Mitchell R. Vollger, Xavi Guitart, Philip C. Dishuck, Ludovica Mercuri, William T. Harvey, Ariel Gershman, Mark Diekhans, Arvis Sulovari, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, David Porubský, Ruiyang Li, Sergey Nurk, Sergey Koren, Karen H. Miga, Adam M. Phillippy, Winston Timp, Mario Ventura, Evan E. Eichler

    出版事項 2022
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    Artigo
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  10. 10
    The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

    The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals 著者: Giuliana Giannuzzi, Paul J. Schmidt, Eleonora Porcu, Gilles Willemin, Katherine M. Munson, Xander Nuttle, Rachel K. Earl, Jacqueline Chrast, Kendra Hoekzema, Davide Risso, Katrin Männik, Pasquelena De Nittis, Ethan Baratz, Yann Hérault, Xiang Gao, Caroline C. Philpott, Raphael Bernier, Zoltán Kutalik, Mark D. Fleming, Evan E. Eichler, Alexandre Reymond

    出版事項 2019
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    Artigo
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  11. 11
    Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes

    Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes 著者: PingHsun Hsieh, Mitchell R. Vollger, Vy Dang, David Porubský, Carl Baker, Stuart Cantsilieris, Kendra Hoekzema, Alexandra P. Lewis, Katherine M. Munson, Melanie Sorensen, Zev Kronenberg, Shwetha C. Murali, Bradley J. Nelson, Giorgia Chiatante, Flavia Angela Maria Maggiolini, Hélène Blanché, Jason G. Underwood, Francesca Antonacci, Jean‐François Deleuze, Evan E. Eichler

    出版事項 2019
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    Artigo
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  12. 12
    Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms

    Embryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms 著者: Eric Courchesne, Vani Taluja, Sanaz Nazari, Caitlin Aamodt, Karen Pierce, Kuaikuai Duan, Sunny Stophaeros, Linda Lopez, Cynthia Carter Barnes, Jaden Troxel, Kathleen Campbell, Tianyun Wang, Kendra Hoekzema, Evan E. Eichler, João V. Nani, Wirla Pontes, Sandra Sanchez Sanchez, Michael Lombardo, Janaína Sena de Souza, Mirian A.F. Hayashi, Alysson R. Muotri

    出版事項 2024
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  13. 13
    The evolution and population diversity of human-specific segmental duplications

    The evolution and population diversity of human-specific segmental duplications 著者: Megan Y. Dennis, Lana Harshman, Bradley J. Nelson, Osnat Penn, Stuart Cantsilieris, John Huddleston, Francesca Antonacci, Kelsi Penewit, Laura Denman, Archana N. Raja, Carl Baker, Kenneth M. K. Mark, Maika Malig, Nicolette Janke, Claudia Y. Espinoza, Holly A.F. Stessman, Xander Nuttle, Kendra Hoekzema, Tina A. Lindsay-Graves, Richard K. Wilson, Evan E. Eichler

    出版事項 2017
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    Artigo
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  14. 14
    Familial long-read sequencing increases yield of de novo mutations

    Familial long-read sequencing increases yield of de novo mutations 著者: Michelle D. Noyes, William T. Harvey, David Porubský, Arvis Sulovari, Ruiyang Li, Nicholas R. Rose, Peter A. Audano, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, Tuomo Mantere, Tina A. Graves-Lindsay, Ashley D. Sanders, Sara Goodwin, Melissa Kramer, Younes Mokrab, Michael C. Zody, Alexander Hoischen, Jan O. Korbel, W. Richard McCombie, Evan E. Eichler

    出版事項 2022
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  15. 15
    De novo genic mutations among a Chinese autism spectrum disorder cohort

    De novo genic mutations among a Chinese autism spectrum disorder cohort 著者: Tianyun Wang, Hui Guo, Bo Xiong, Holly A.F. Stessman, Huidan Wu, Bradley P. Coe, Tychele N. Turner, Yanling Liu, Wenjing Zhao, Kendra Hoekzema, Laura Vives, Lu Xia, Meina Tang, Jianjun Ou, Biyuan Chen, Yidong Shen, Guanglei Xun, Long Min, Janice Lin, Zev Kronenberg, Yu Peng, Ting Bai, Honghui Li, Xiaoyan Ke, Zhengmao Hu, Jingping Zhao, Xiaobing Zou, Kun Xia, Evan E. Eichler

    出版事項 2016
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    Artigo
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  16. 16
    A haplotype-resolved view of human gene regulation

    A haplotype-resolved view of human gene regulation 著者: Mitchell R. Vollger, Elliott Swanson, Shane Neph, Jane Ranchalis, Katherine M. Munson, Ching‐Huang Ho, Adriana E. Sedeño-Cortés, William E. Fondrie, Stephanie C. Bohaczuk, Yizi Mao, Nancy L. Parmalee, Benjamin J. Mallory, William T. Harvey, Young-Jun Kwon, Gage H. Garcia, Kendra Hoekzema, Jeffrey G. Meyer, Mine S. Cicek, Evan E. Eichler, William Stafford Noble, Daniela Witten, James T. Bennett, John Ray, Andrew B. Stergachis

    出版事項 2024
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  17. 17
    Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

    Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA 著者: Tychele N. Turner, Fereydoun Hormozdiari, Michael H. Duyzend, Sarah A. McClymont, Paul W. Hook, Ivan Iossifov, Archana N. Raja, Carl Baker, Kendra Hoekzema, Holly A.F. Stessman, Michael C. Zody, Bradley J. Nelson, John Huddleston, Richard Sandstrom, Joshua D. Smith, D. Hanna, James M. Swanson, Elaine M. Faustman, Michael J. Bamshad, J Stamatoyannopoulos, Deborah A. Nickerson, Andrew S. McCallion, Robert B. Darnell, Evan E. Eichler

    出版事項 2015
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    Artigo
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  18. 18
    GIGYF1 disruption associates with autism and impaired IGF-1R signaling

    GIGYF1 disruption associates with autism and impaired IGF-1R signaling 著者: Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Hua Yue, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael Bernier, Rachel K. Earl, Evangeline C. Kurtz‐Nelson, Michaela J. Idleburg, Suneeta Madan-Khetarpal, Rebecca A. Clark, Jessica Sebastian, Alberto Fernández‐Jaén, Sara Álvarez, Staci D. King, Luiza Ramos, Mara Lúcia Schmitz Ferreira Santos, Donna M. Martin, Dan Brooks, Joseph D. Symonds, Ioana Cutcutache, Qian Pan, Zhengmao Hu, Ling Yuan, Evan E. Eichler, Kun Xia, Hui Guo

    出版事項 2022
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    Artigo
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  19. 19
    Structurally divergent and recurrently mutated regions of primate genomes

    Structurally divergent and recurrently mutated regions of primate genomes 著者: Yafei Mao, William T. Harvey, David Porubský, Katherine M. Munson, Kendra Hoekzema, Alexandra P. Lewis, Peter A. Audano, Allison N. Rozanski, Xiangyu Yang, Shilong Zhang, DongAhn Yoo, David Gordon, Tyler Fair, Xiaoxi Wei, Glennis A. Logsdon, Marina Haukness, Philip C. Dishuck, Hyeonsoo Jeong, Ricardo C.H. del Rosario, Vanessa L. Bauer, Will T. Fattor, Gregory K. Wilkerson, Yuxiang Mao, Yongyong Shi, Qiang Sun, Qing Lü, Benedict Paten, Trygve E. Bakken, Alex A. Pollen, Guoping Feng, Sara L. Sawyer, Wesley C. Warren, Lucia Carbone, Evan E. Eichler

    出版事項 2024
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    Artigo
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  20. 20
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains 著者: Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    出版事項 2017
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