Hasil Pencarian - Evan E. Eichler

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  1. 1
    Signals of historical interlocus gene conversion in human segmental duplications.

    Signals of historical interlocus gene conversion in human segmental duplications. oleh Beth L Dumont, Evan E Eichler

    Diterbitkan 2013-01-01
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  2. 2
    Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies

    Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies oleh Madelyn A. Gillentine, Tianyun Wang, Evan E. Eichler

    Diterbitkan 2022-11-01
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  3. 3
    Applications of long-read sequencing to Mendelian genetics

    Applications of long-read sequencing to Mendelian genetics oleh Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler

    Diterbitkan 2023-06-01
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  4. 4
    Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders

    Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders oleh Anne B. Arnett, Tianyun Wang, Evan E. Eichler, Raphael A. Bernier

    Diterbitkan 2021-06-01
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  5. 5
    Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes.

    Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes. oleh Yongzhong Zhao, Michael Marotta, Evan E Eichler, Charis Eng, Hisashi Tanaka

    Diterbitkan 2009-05-01
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  6. 6
    Population stratification of a common APOBEC gene deletion polymorphism.

    Population stratification of a common APOBEC gene deletion polymorphism. oleh Jeffrey M Kidd, Tera L Newman, Eray Tuzun, Rajinder Kaul, Evan E Eichler

    Diterbitkan 2007-04-01
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  7. 7
    Organization and evolution of primate centromeric DNA from whole-genome shotgun sequence data.

    Organization and evolution of primate centromeric DNA from whole-genome shotgun sequence data. oleh Can Alkan, Mario Ventura, Nicoletta Archidiacono, Mariano Rocchi, S Cenk Sahinalp, Evan E Eichler

    Diterbitkan 2007-09-01
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  8. 8
    Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

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

    Diterbitkan 2017-11-01
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  9. 9
    Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing

    Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing oleh Mir Henglin, Maryam Ghareghani, William T. Harvey, David Porubsky, Sergey Koren, Evan E. Eichler, Peter Ebert, Tobias Marschall

    Diterbitkan 2024-10-01
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  10. 10
    Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

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

    Diterbitkan 2017-10-01
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  11. 11
    A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus

    A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus oleh Oscar L. Rodriguez, William S. Gibson, Tom Parks, Matthew Emery, James Powell, Maya Strahl, Gintaras Deikus, Kathryn Auckland, Evan E. Eichler, Evan E. Eichler, Wayne A. Marasco, Robert Sebra, Robert Sebra, Andrew J. Sharp, Melissa L. Smith, Melissa L. Smith, Melissa L. Smith, Ali Bashir, Corey T. Watson

    Diterbitkan 2020-09-01
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  12. 12
    Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus

    Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus oleh Annalisa Paparella, Alberto L’Abbate, Donato Palmisano, Gerardina Chirico, David Porubsky, Claudia R. Catacchio, Mario Ventura, Evan E. Eichler, Flavia A. M. Maggiolini, Francesca Antonacci

    Diterbitkan 2023-10-01
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  13. 13
    Death and resurrection of the human IRGM gene.

    Death and resurrection of the human IRGM gene. oleh Cemalettin Bekpen, Tomas Marques-Bonet, Can Alkan, Francesca Antonacci, Maria Bruna Leogrande, Mario Ventura, Jeffrey M Kidd, Priscillia Siswara, Jonathan C Howard, Evan E Eichler

    Diterbitkan 2009-03-01
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  14. 14
    Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

    Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism oleh Caitlin M. Hudac, Holly A. F. Stessman, Trent D. DesChamps, Anna Kresse, Susan Faja, Emily Neuhaus, Sara Jane Webb, Evan E. Eichler, Raphael A. Bernier

    Diterbitkan 2017-05-01
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  15. 15
    Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

    Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions oleh Emily Neuhaus, Hannah Rea, Elizabeth Jones, Hannah Benavidez, Conor Miles, Alana Whiting, Margaret Johansson, Curtis Eayrs, Evangeline C. Kurtz-Nelson, Rachel Earl, Raphael A. Bernier, Evan E. Eichler

    Diterbitkan 2024-04-01
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  16. 16
    Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants

    Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants oleh Yaoxi He, Xin Luo, Bin Zhou, Ting Hu, Xiaoyu Meng, Peter A. Audano, Zev N. Kronenberg, Evan E. Eichler, Jie Jin, Yongbo Guo, Yanan Yang, Xuebin Qi, Bing Su

    Diterbitkan 2019-09-01
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  17. 17
    Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans.

    Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans. oleh Chris T Yohn, Zhaoshi Jiang, Sean D McGrath, Karen E Hayden, Philipp Khaitovich, Matthew E Johnson, Marla Y Eichler, John D McPherson, Shaying Zhao, Svante Pääbo, Evan E Eichler

    Diterbitkan 2005-04-01
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  18. 18
    Relative burden of large CNVs on a range of neurodevelopmental phenotypes.

    Relative burden of large CNVs on a range of neurodevelopmental phenotypes. oleh Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, Carl Baker, Laura Vives, Tiffany H Vu, Neil Shafer, Raphael Bernier, Giovanni B Ferrero, Margherita Silengo, Stephen T Warren, Carlos S Moreno, Marco Fichera, Corrado Romano, Wendy H Raskind, Evan E Eichler

    Diterbitkan 2011-11-01
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  19. 19
    Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta).

    Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta). oleh Jeremiah D Degenhardt, Paola de Candia, Adrien Chabot, Stuart Schwartz, Les Henderson, Binhua Ling, Meredith Hunter, Zhaoshi Jiang, Robert E Palermo, Michael Katze, Evan E Eichler, Mario Ventura, Jeffrey Rogers, Preston Marx, Yoav Gilad, Carlos D Bustamante

    Diterbitkan 2009-01-01
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  20. 20
    Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans

    Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans oleh PingHsun Hsieh, Vy Dang, Mitchell R. Vollger, Yafei Mao, Tzu-Hsueh Huang, Philip C. Dishuck, Carl Baker, Stuart Cantsilieris, Alexandra P. Lewis, Katherine M. Munson, Melanie Sorensen, AnneMarie E. Welch, Jason G. Underwood, Evan E. Eichler

    Diterbitkan 2021-08-01
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