Search Results - Brett Copeland

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  1. 1
    Natural Selection Shapes Codon Usage in the Human Genome

    Natural Selection Shapes Codon Usage in the Human Genome by Ryan S. Dhindsa, Brett Copeland, Anthony M. Mustoe, David B. Goldstein

    Published 2020
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  2. 2
    Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

    Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics by Ayal B. Gussow, Brett Copeland, Ryan S. Dhindsa, Quanli Wang, Slavé Petrovski, William H. Majoros, Andrew S. Allen, David B. Goldstein

    Published 2017
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  3. 3
    An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

    An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development by Seung Tae Baek, Brett Copeland, Eun-Jin Yun, Seok‐Kyu Kwon, Alicia Guemez‐Gamboa, Ashleigh E. Schaffer, Sangwoo Kim, Hoon‐Chul Kang, Saera Song, Gary W. Mathern, Joseph G. Gleeson

    Published 2015
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  4. 4
    Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

    Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability by Rosalind Law, Tracy Dixon‐Salazar, Julie Jerber, Na Cai, Ansar Ahmed Abbasi, Maha S. Zaki, Kirti Mittal, Stacey Gabriel, Muhammad Rafiq, Valeed Khan, Maria Nguyen, Ghazanfar Ali, Brett Copeland, Eric Scott, Nasim Vasli, Anna Mikhailov, Muhammad Nasim Khan, Danielle M. Andrade, Muhammad Ayaz, Muhammad Ansar, Muhammad Ayub, John B. Vincent, Joseph G. Gleeson

    Published 2014
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  5. 5
    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome by Alicia Guemez‐Gamboa, Long N. Nguyen, Hongbo Yang, Maha S. Zaki, Majdi Kara, Tawfeg Ben‐Omran, Naiara Akizu, Rasim Özgür Rosti, Başak Rosti, Eric Scott, Jana Schroth, Brett Copeland, Keith K. Vaux, Amaury Cazenave‐Gassiot, Debra Q Y Quek, Bernice H. Wong, Bryan C. Tan, Markus R. Wenk, Murat Günel, Stacey Gabriel, C. Neil, David L. Silver, Joseph G. Gleeson

    Published 2015
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  6. 6
    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

    Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction by Dov Tiosano, Hagit Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G. Gleeson, Patrick Rump, Hester van Meer, Deborah A. Sival, Volker Haucke, Josh Kriwinsky, Karl X. Knaup, André Reis, Nadine Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T. Thiel, Michael S. Wiesener, Mariam G. Aslanyan, David A. Buchner

    Published 2019
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  7. 7
    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

    Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration by Ashleigh E. Schaffer, Martin W. Breuss, Ahmet Okay Çağlayan, Nouriya Al-Sanaa, Hind Y. Al-Abdulwahed, Hande Kaymakçalan, Cahide Yılmaz, Maha S. Zaki, Rasim Özgür Rosti, Brett Copeland, Seung Tae Baek, Damir Musaev, Eric Scott, Tawfeg Ben‐Omran, Ariana Kariminejad, Hülya Kayserili, Faezeh Mojahedi, Majdi Kara, Na Cai, Jennifer L. Silhavy, Seham Elsharif, Elif Fenercioğlu, Bruce A. Barshop, Bülent Kara, Rengang Wang, Valentina Stanley, Kiely N. James, Rahul Nachnani, Aneesha Kalur, Hisham Megahed, Faruk İncecik, Sumita Danda, Yasemin Alanay, Eissa Faqeih, Gia Melikishvili, Lobna Mansour, Ian Miller, Biayna Sukhudyan, Jamel Chelly, William B. Dobyns, Kaya Bilgüvar, Rami Abou Jamra, Murat Günel, Joseph G. Gleeson

    Published 2018
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  8. 8
    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

    Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction by Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux, Eric Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L.S.M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. H. Abdel‐Salam, Rıza Köksal Özgül, Mahmut Şamil Sağıroğlu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hülya Kayserili, Amira Masri, Lailá Bastaki, Samia A. Temtamy, Ulrich Müller, Isabelle Desguerre, Jean‐Laurent Casanova, Ali Dursun, Murat Günel, Stacey Gabriel, Pascale de Lonlay, Joseph G. Gleeson

    Published 2015
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  9. 9
    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome by Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Özgür Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S. Zaki, Kathryn J. Swoboda, Joanne Milisa-Drautz, William B. Dobyns, Mohamad A. Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose‐Mary Boustany, Carol L. Clericuzio, Stefano D’Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A. Johnson, Michael Freilinger, Keith K. Vaux, Stacey Gabriel, Pedro Aza‐Blanc, Susanne Heynen‐Genel, Trey Ideker, Brian David Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G. Gleeson

    Published 2015
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  10. 10
    Comprehensive multiomic profiling of somatic mutations in malformations of cortical development

    Comprehensive multiomic profiling of somatic mutations in malformations of cortical development by Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, Corrine Gardner, Christina A. Gurnett, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Robert Y. Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson

    Published 2022
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  11. 11
    Diagnostic Utility of Exome Sequencing for Kidney Disease

    Diagnostic Utility of Exome Sequencing for Kidney Disease by Emily Groopman, Maddalena Marasà, Sophia Cameron‐Christie, Slavé Petrovski, Vimla S. Aggarwal, Hila Milo Rasouly, Yifu Li, Junying Zhang, Jordan G. Nestor, Priya Krithivasan, Wan Yee Lam, Adele Mitrotti, Stacy Piva, Byum Hee Kil, Debanjana Chatterjee, Rachel Reingold, Drew Bradbury, Michael DiVecchia, Holly Snyder, Xueru Mu, Karla Mehl, Olivia Balderes, David Fasel, Chunhua Weng, Jai Radhakrishnan, Pietro A. Canetta, Gerald B. Appel, Andrew S. Bomback, Wooin Ahn, Natalie Uy, Shumyle Alam, David Cohen, Russell J. Crew, Geoffrey K. Dube, Maya K. Rao, Sitharthan Kamalakaran, Brett Copeland, Zhong Ren, Joshua Bridgers, Colin D. Malone, Caroline M. Mebane, Neha Dagaonkar, Bengt Fellström, Carolina Haefliger, Sumit Mohan, Simone Sanna‐Cherchi, Krzysztof Kiryluk, Jan Fleckner, Ruth March, Adam Platt, David B. Goldstein, Ali G. Gharavi

    Published 2018
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  12. 12
    Somatic mosaicism reveals clonal distributions of neocortical development

    Somatic mosaicism reveals clonal distributions of neocortical development by Martin W. Breuss, Xiaoxu Yang, Johannes C. M. Schlachetzki, Danny Antaki, Addison J. Lana, Xin Xu, Changuk Chung, Guoliang Chai, Valentina Stanley, Qiong Song, Traci Fang Newmeyer, An T. Nguyen, S O'Brien, Marten A. Hoeksema, Beibei Cao, Alexi Nott, Jennifer McEvoy‐Venneri, Martina P. Pasillas, Scott T. Barton, Brett Copeland, Shareef Nahas, Lucitia Van Der Kraan, Yan Ding, Joseph G. Gleeson, Martin W. Breuss, Xiaoxu Yang, Danny Antaki, Changuk Chung, Dan Averbuj, Eric Courchesne, Laurel Ball, Subhojit Roy, Daniel R. Weinberger, Andrew E. Jaffe, Apuã C.M. Paquola, Jennifer A. Erwin, Jooheon Shin, Michael J. McConnell, Richard E. Straub, Rujuta Narurkar, Gary W. Mathern, Christopher A. Walsh, Alice Lee, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Eduardo A. Maury, Javier Ganz, Michael A. Lodato, Michael B. Miller, Pengpeng Li, Rachel E. Rodin, Rebeca Borges-Monroy, Robert Hill, Sara Bizzotto, Sattar Khoshkhoo, Sonia Kim, Zinan Zhou, Peter J. Park, Alison R. Barton, Alon Galor, Chong Chu, Craig L. Bohrson, D. Gulhan, Elaine T. Lim, Eun‐Cheon Lim, Giorgio Melloni, Isidro Cortes, Jake Lee, Joe Luquette, Lixing Yang, Maxwell A. Sherman, Michael E. Coulter, Min‐Seok Kwon, Semin Lee, Soo In Lee, Vinary Viswanadham, Yanmei Dou, Andrew Chess, Attila Jones, Chaggai Rosenbluh, Schahram Akbarian, Ben Langmead, Jeremy Thorpe, Sean Cho, Alexej Abyzov, Taejeong Bae, Yeongjun Jang, Yifan Wang, Cindy Molitor, Mette A. Peters, Fred H. Gage, Meiyan Wang, Patrick Reed, Sara B. Linker, Alexander E. Urban, Bo Zhou, Reenal Pattni, Xiaowei Zhu, Aitor Serres Amero

    Published 2022
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  13. 13
    Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

    Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development by Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P.L. Marsh, Martin W. Breuss, Laurel Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon‐Chul Kang, Andreas Schulze‐Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, David D. Limbrick, Christina A. Gurnett, Matthew D. Smyth, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Hélio Rubens Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Joseph G. Gleeson, Marilyn C. Jones, Diane Masser‐Frye, Shifteh Sattar, Mark Nespeca, David Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin‐Hung Chen, Jin‐Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Hélio Rubens Machado, Camila Araújo Bernardino Garcia, Wilson A. Silva, Se Hoon Kim, Hoon‐Chul Kang, Yasemin Alanay, Seema Kapoor, Carola A. Haas, Georgia Ramantani, Thomas J. Feuerstein, Ingmar Blümcke, Robyn M. Busch, Ying Zhong, Vadym Biloshytsky, Kostiantyn Kostiuk, Pedachenko Eg, Gary W. Mathern, Christina A. Gurnett, Matthew D. Smyth, Ingo Helbig, Benjamin C. Kennedy, Judy Liu, Felix Chan, Darcy A. Krueger, Richard E. Frye, Angus A. Wilfong, David L. Adelson, William D. Gaillard, Chima Oluigbo, Anne E. Anderson, Alice Lee, August Yue Huang, Alissa M. D’Gama, Caroline Dias, Christopher A. Walsh, Eduardo A. Maury, Javier Ganz

    Published 2023
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