Hasil Pencarian - Michael E. Talkowski

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  1. 1
    Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

    Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system oleh Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt

    Diterbitkan 2024-05-01
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  2. 2
    Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

    Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system oleh Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt

    Diterbitkan 2024-01-01
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  3. 3
    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 oleh 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 Sahin

    Diterbitkan 2021-05-01
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  4. 4
    Hypomorphic mutation of the mouse Huntington's disease gene orthologue.

    Hypomorphic mutation of the mouse Huntington's disease gene orthologue. oleh Vidya Murthy, Toma Tebaldi, Toshimi Yoshida, Serkan Erdin, Teresa Calzonetti, Ravi Vijayvargia, Takshashila Tripathi, Emanuela Kerschbamer, Ihn Sik Seong, Alessandro Quattrone, Michael E Talkowski, James F Gusella, Katia Georgopoulos, Marcy E MacDonald, Marta Biagioli

    Diterbitkan 2019-03-01
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  5. 5
    Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

    Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice oleh Marina Kovalenko, Serkan Erdin, Marissa A Andrew, Jason St Claire, Melissa Shaughnessey, Leroy Hubert, João Luís Neto, Alexei Stortchevoi, Daniel M Fass, Ricardo Mouro Pinto, Stephen J Haggarty, John H Wilson, Michael E Talkowski, Vanessa C Wheeler

    Diterbitkan 2020-09-01
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  6. 6
    Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

    Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants oleh Sjors Middelkamp, Judith M. Vlaar, Jacques Giltay, Jerome Korzelius, Nicolle Besselink, Sander Boymans, Roel Janssen, Lisanne de la Fonteijne, Ellen van Binsbergen, Markus J. van Roosmalen, Ron Hochstenbach, Daniela Giachino, Michael E. Talkowski, Wigard P. Kloosterman, Edwin Cuppen

    Diterbitkan 2019-12-01
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  7. 7
    Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons

    Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons oleh Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J. C. Tai, Celine E. F. De Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patricia Maciel, Michael E. Talkowski, James F. Gusella

    Diterbitkan 2020-06-01
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  8. 8
    Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

    Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder oleh Behrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, Maureen Mulhern, Xinyi Xu, Lambertus Klei, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Dorothy E. Grice, Kathryn Roeder, Bernie Devlin, Joseph D. Buxbaum

    Diterbitkan 2021-10-01
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  9. 9
    Mapping and phasing of structural variation in patient genomes using nanopore sequencing

    Mapping and phasing of structural variation in patient genomes using nanopore sequencing oleh Mircea Cretu Stancu, Markus J. van Roosmalen, Ivo Renkens, Marleen M. Nieboer, Sjors Middelkamp, Joep de Ligt, Giulia Pregno, Daniela Giachino, Giorgia Mandrile, Jose Espejo Valle-Inclan, Jerome Korzelius, Ewart de Bruijn, Edwin Cuppen, Michael E. Talkowski, Tobias Marschall, Jeroen de Ridder, Wigard P. Kloosterman

    Diterbitkan 2017-11-01
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  10. 10
    Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

    Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder oleh Elaine T. Lim, Yingleong Chan, Pepper Dawes, Xiaoge Guo, Serkan Erdin, Derek J. C. Tai, Songlei Liu, Julia M. Reichert, Mannix J. Burns, Ying Kai Chan, Jessica J. Chiang, Katharina Meyer, Xiaochang Zhang, Christopher A. Walsh, Bruce A. Yankner, Soumya Raychaudhuri, Joel N. Hirschhorn, James F. Gusella, Michael E. Talkowski, George M. Church

    Diterbitkan 2022-06-01
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  11. 11
    Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production

    Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production oleh Helen Chen, A. Kaitlyn Victor, Jonathon Klein, Klementina Fon Tacer, Derek J.C. Tai, Celine de Esch, Alexander Nuttle, Jamshid Temirov, Lisa C. Burnett, Michael Rosenbaum, Yiying Zhang, Li Ding, James J. Moresco, Jolene K. Diedrich, John R. Yates III, Heather S. Tillman, Rudolph L. Leibel, Michael E. Talkowski, Daniel D. Billadeau, Lawrence T. Reiter, Patrick Ryan Potts

    Diterbitkan 2020-09-01
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  12. 12
    A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

    A deep learning approach to identify gene targets of a therapeutic for human splicing disorders oleh Dadi Gao, Elisabetta Morini, Monica Salani, Aram J. Krauson, Anil Chekuri, Neeraj Sharma, Ashok Ragavendran, Serkan Erdin, Emily M. Logan, Wencheng Li, Amal Dakka, Jana Narasimhan, Xin Zhao, Nikolai Naryshkin, Christopher R. Trotta, Kerstin A. Effenberger, Matthew G. Woll, Vijayalakshmi Gabbeta, Gary Karp, Yong Yu, Graham Johnson, William D. Paquette, Garry R. Cutting, Michael E. Talkowski, Susan A. Slaugenhaupt

    Diterbitkan 2021-06-01
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  13. 13
    The female protective effect against autism spectrum disorder

    The female protective effect against autism spectrum disorder oleh Emilie M. Wigdor, Daniel J. Weiner, Jakob Grove, Jack M. Fu, Wesley K. Thompson, Caitlin E. Carey, Nikolas Baya, Celia van der Merwe, Raymond K. Walters, F. Kyle Satterstrom, Duncan S. Palmer, Anders Rosengren, Jonas Bybjerg-Grauholm, David M. Hougaard, Preben Bo Mortensen, Mark J. Daly, Michael E. Talkowski, Stephan J. Sanders, Somer L. Bishop, Anders D. Børglum, Elise B. Robinson

    Diterbitkan 2022-06-01
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  14. 14
    A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

    A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders oleh Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai-Man Chan, Lydia N. Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis-Juan, Jack M. Fu, Isaac Wong, Xuefang Zhao, Alan P. Tenney, Cassia Lee, Kristen M. Laricchia, Brenda J. Barry, Victoria R. Bradford, Julie A. Jurgens, Eleina M. England, Monkol Lek, Daniel G. MacArthur, Eunjung Alice Lee, Michael E. Talkowski, Harrison Brand, Len A. Pennacchio, Elizabeth C. Engle

    Diterbitkan 2024-09-01
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  15. 15
    Chromatin alternates between A and B compartments at kilobase scale for subgenic organization

    Chromatin alternates between A and B compartments at kilobase scale for subgenic organization oleh Hannah L. Harris, Huiya Gu, Moshe Olshansky, Ailun Wang, Irene Farabella, Yossi Eliaz, Achyuth Kalluchi, Akshay Krishna, Mozes Jacobs, Gesine Cauer, Melanie Pham, Suhas S. P. Rao, Olga Dudchenko, Arina Omer, Kiana Mohajeri, Sungjae Kim, Michael H. Nichols, Eric S. Davis, Dimos Gkountaroulis, Devika Udupa, Aviva Presser Aiden, Victor G. Corces, Douglas H. Phanstiel, William Stafford Noble, Guy Nir, Michele Di Pierro, Jeong-Sun Seo, Michael E. Talkowski, Erez Lieberman Aiden, M. Jordan Rowley

    Diterbitkan 2023-06-01
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  16. 16
    Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

    Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements oleh Sebastiaan van Heesch, Marieke Simonis, Markus J. van Roosmalen, Vamsee Pillalamarri, Harrison Brand, Ewart W. Kuijk, Kim L. de Luca, Nico Lansu, A. Koen Braat, Androniki Menelaou, Wensi Hao, Jeroen Korving, Simone Snijder, Lars T. van der Veken, Ron Hochstenbach, Alida C. Knegt, Karen Duran, Ivo Renkens, Najla Alekozai, Myrthe Jager, Sarah Vergult, Björn Menten, Ewart de Bruijn, Sander Boymans, Elly Ippel, Ellen van Binsbergen, Michael E. Talkowski, Klaske Lichtenbelt, Edwin Cuppen, Wigard P. Kloosterman

    Diterbitkan 2014-12-01
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  17. 17
    Topologically associating domain boundaries are required for normal genome function

    Topologically associating domain boundaries are required for normal genome function oleh Sudha Rajderkar, Iros Barozzi, Yiwen Zhu, Rong Hu, Yanxiao Zhang, Bin Li, Ana Alcaina Caro, Yoko Fukuda-Yuzawa, Guy Kelman, Adyam Akeza, Matthew J. Blow, Quan Pham, Anne N. Harrington, Janeth Godoy, Eman M. Meky, Kianna von Maydell, Riana D. Hunter, Jennifer A. Akiyama, Catherine S. Novak, Ingrid Plajzer-Frick, Veena Afzal, Stella Tran, Javier Lopez-Rios, Michael E. Talkowski, K. C. Kent Lloyd, Bing Ren, Diane E. Dickel, Axel Visel, Len A. Pennacchio

    Diterbitkan 2023-04-01
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  18. 18
    Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex

    Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex oleh Donna M. Werling, Sirisha Pochareddy, Jinmyung Choi, Joon-Yong An, Brooke Sheppard, Minshi Peng, Zhen Li, Claudia Dastmalchi, Gabriel Santpere, André M.M. Sousa, Andrew T.N. Tebbenkamp, Navjot Kaur, Forrest O. Gulden, Michael S. Breen, Lindsay Liang, Michael C. Gilson, Xuefang Zhao, Shan Dong, Lambertus Klei, A. Ercument Cicek, Joseph D. Buxbaum, Homa Adle-Biassette, Jean-Leon Thomas, Kimberly A. Aldinger, Diana R. O’Day, Ian A. Glass, Noah A. Zaitlen, Michael E. Talkowski, Kathryn Roeder, Matthew W. State, Bernie Devlin, Stephan J. Sanders, Nenad Sestan

    Diterbitkan 2020-04-01
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  19. 19
    Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2.

    Traditional and systems biology based drug discovery for the rare tumor syndrome neurofibromatosis type 2. oleh Synodos for NF2 Consortium, Robert Allaway, Steve P Angus, Roberta L Beauchamp, Jaishri O Blakeley, Marga Bott, Sarah S Burns, Annemarie Carlstedt, Long-Sheng Chang, Xin Chen, D Wade Clapp, Patrick A Desouza, Serkan Erdin, Cristina Fernandez-Valle, Justin Guinney, James F Gusella, Stephen J Haggarty, Gary L Johnson, Salvatore La Rosa, Helen Morrison, Alejandra M Petrilli, Scott R Plotkin, Abhishek Pratap, Vijaya Ramesh, Noah Sciaky, Anat Stemmer-Rachamimov, Tim J Stuhlmiller, Michael E Talkowski, D Bradley Welling, Charles W Yates, Jon S Zawistowski, Wen-Ning Zhao

    Diterbitkan 2018-01-01
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  20. 20
    Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants

    Mako: A Graph-based Pattern Growth Approach to Detect Complex Structural Variants oleh Jiadong Lin, Xiaofei Yang, Walter Kosters, Tun Xu, Yanyan Jia, Songbo Wang, Qihui Zhu, Mallory Ryan, Li Guo, Chengsheng Zhang, Charles Lee, Scott E. Devine, Evan E. Eichler, Kai Ye, Mark B. Gerstein, Ashley D. Sanders, Micheal C. Zody, Michael E. Talkowski, Ryan E. Mills, Jan O. Korbel, Tobias Marschall, Peter Ebert, Peter A. Audano, Bernardo Rodriguez-Martin, David Porubsky, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Xuefang Zhao, PingHsun Hsieh, Joyce Lee, Sushant Kumar, Tobias Rausch, Yu Chen, Zechen Chong, Katherine M. Munson, Mark J.P. Chaisson, Junjie Chen, Xinghua Shi, Aaron M. Wenger, William T. Harvey, Patrick Hansenfeld, Allison Regier, Ira M. Hall, Paul Flicek, Alex R. Hastie, Susan Fairely

    Diterbitkan 2022-02-01
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