检索结果 - Tychele N. Turner

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  1. 1
    The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders

    The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders 由 Tychele N. Turner, Evan E. Eichler

    出版 2018
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  2. 2
    Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

    Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications 由 Amy B. Wilfert, Arvis Sulovari, Tychele N. Turner, Bradley P. Coe, Evan E. Eichler

    出版 2017
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  3. 3
    Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

    Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns 由 Tychele N. Turner, Christopher Douville, Dewey Kim, Peter D. Stenson, D.N. Cooper, Aravinda Chakravarti, Rachel Karchin

    出版 2015
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  4. 4
    Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

    Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes 由 Tejasvi Niranjan, Cindy Skinner, Melanie May, Tychele N. Turner, Rebecca Rose, Roger E. Stevenson, Charles E. Schwartz, Tao Wang

    出版 2015
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  5. 5
    Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

    Clinical phenotype of ASD-associated DYRK1A haploinsufficiency 由 Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer Gerdts, Evan E. Eichler, Raphael Bernier

    出版 2017
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  6. 6
    The autism spectrum phenotype in ADNP syndrome

    The autism spectrum phenotype in ADNP syndrome 由 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 2018
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  7. 7
    Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

    Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders 由 Tychele N. Turner, Amy B. Wilfert, Trygve E. Bakken, Raphael Bernier, Micah Pepper, Zhancheng Zhang, Rebecca I. Torene, Kyle Retterer, Evan E. Eichler

    出版 2019
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  8. 8
    denovo-db: a compendium of human<i>de novo</i>variants

    denovo-db: a compendium of human<i>de novo</i>variants 由 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 2016
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  9. 9
    Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

    Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder? 由 Joseph Dougherty, Natasha Marrus, Susan E. Maloney, Benjamin Hon Kei Yip, Sven Sandin, Tychele N. Turner, Din Selmanovic, Kristen L. Kroll, David H. Gutmann, John N. Constantino, Lauren A. Weiss

    出版 2022
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  10. 10
    Genomic Patterns of De Novo Mutation in Simplex Autism

    Genomic Patterns of De Novo Mutation in Simplex Autism 由 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 2017
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  11. 11
    Examining Sex Differences in Autism Heritability

    Examining Sex Differences in Autism Heritability 由 Sven Sandin, Benjamin Hon Kei Yip, Weiyao Yin, Lauren A. Weiss, Joseph Dougherty, Stuart B. Fass, John N. Constantino, Hailin Zhu, Tychele N. Turner, Natasha Marrus, David H. Gutmann, Stephan Sanders, Benjamin Christoffersson

    出版 2024
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  12. 12
    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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  13. 13
    Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease

    Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease 由 Joseph M. Tilghman, Albee Y. Ling, Tychele N. Turner, Maria X. Sosa, Niklas Krumm, Sumantra Chatterjee, Ashish Kapoor, Bradley P. Coe, Khanh-Dung H. Nguyen, Namrata Gupta, Stacey Gabriel, Evan E. Eichler, Courtney Berrios, Aravinda Chakravarti

    出版 2019
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  14. 14
    Generation and Characterization of a Knockout Mouse of an Enhancer of<i>EBF3</i>

    Generation and Characterization of a Knockout Mouse of an Enhancer of<i>EBF3</i> 由 Emily Cordova Hurtado, Janine M. Wotton, Alexander O. D. Gulka, Crystal Burke, Jeffrey K. Ng, Ibrahim Bah, Juana G. Manuel, Hillary B. Heins, Stephen A. Murray, David U. Gorkin, Jacqueline K. White, Kevin A. Peterson, Tychele N. Turner

    出版 2025
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  15. 15
    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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  16. 16
    Single-cell epigenomics reveals mechanisms of human cortical development

    Single-cell epigenomics reveals mechanisms of human cortical development 由 Ryan Ziffra, Chang N. Kim, Jayden Ross, Amy B. Wilfert, Tychele N. Turner, Maximilian Haeussler, Alex M. Casella, Pawel F. Przytycki, Kathleen C. Keough, David Shin, Derek Bogdanoff, Anat Kreimer, Katherine S. Pollard, Seth A. Ament, Evan E. Eichler, Nadav Ahituv, Tomasz J. Nowakowski

    出版 2021
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  17. 17
    The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates

    The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates 由 Lucie A. Bergeron, Søren Besenbacher, Tychele N. Turner, Cyril J. Versoza, Richard J. Wang, Alivia Lee Price, Ellie E. Armstrong, Meritxell Riera, Jedidiah Carlson, Hwei‐yen Chen, Matthew W. Hahn, Kelley Harris, April Snøfrid Kleppe, Elora H. López-Nandam, Priya Moorjani, Susanne P. Pfeifer, George P. Tiley, Anne D. Yoder, Guojie Zhang, Mikkel Heide Schierup

    出版 2022
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  18. 18
    Loss of δ-catenin function in severe autism

    Loss of δ-catenin function in severe autism 由 Tychele N. Turner, Kamal Sharma, Edwin C. Oh, Yangfan P. Liu, Ryan L. Collins, Maria X. Sosa, Dallas R. Auer, Harrison Brand, Stephan Sanders, Daniel Moreno‐De‐Luca, Vasyl Pihur, Teri M. Plona, Kristen Pike, Daniel Soppet, Michael W. Smith, Sau Wai Cheung, Christa Lese Martin, Matthew W. State, Michael E. Talkowski, Edwin H. Cook, Richard L. Huganir, Nicholas Katsanis, Aravinda Chakravarti

    出版 2015
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  19. 19
    De novo genic mutations among a Chinese autism spectrum disorder cohort

    De novo genic mutations among a Chinese autism spectrum disorder cohort 由 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 2016
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  20. 20
    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 由 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 2015
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