Resultados de procura - Beryl B. Cummings

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  1. 1
    Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits

    Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits por Saaket Agrawal, Jian’an Luan, Beryl B. Cummings, Ethan J. Weiss, Nicholas J. Wareham, Amit V. Khera

    Publicado 2024
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  2. 2
    A quantitative framework for characterizing the evolutionary history of mammalian gene expression

    A quantitative framework for characterizing the evolutionary history of mammalian gene expression por Jenny Chen, Ross Swofford, Jeremy Johnson, Beryl B. Cummings, Noga Rogel, Kerstin Lindblad‐Toh, Wilfried Haerty, Federica Di Palma, Aviv Regev

    Publicado 2018
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  3. 3
    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome por Colleen M. Carlston, Anne O’Donnell‐Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric Vallabh Minikel, Daniel P. Birnbaum, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao

    Publicado 2017
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  4. 4
    The ExAC browser: displaying reference data information from over 60 000 exomes

    The ExAC browser: displaying reference data information from over 60 000 exomes por Konrad J. Karczewski, Ben Weisburd, Brett Thomas, Matthew Solomonson, Douglas M. Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E. Samocha, Beryl B. Cummings, Daniel Birnbaum, Mark J. Daly, Daniel G. MacArthur

    Publicado 2016
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  5. 5
    <scp>RNA</scp> seq analysis for the diagnosis of muscular dystrophy

    <scp>RNA</scp> seq analysis for the diagnosis of muscular dystrophy por Hernán Gonorazky, Minggao Liang, Beryl B. Cummings, Monkol Lek, Johann Micallef, Cynthia Hawkins, Raveen Basran, Ronald D. Cohn, Michael D. Wilson, Daniel G. MacArthur, Christian R. Marshall, Peter N. Ray, James J. Dowling

    Publicado 2015
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  6. 6
    Genetic regulatory variation in populations informs transcriptome analysis in rare disease

    Genetic regulatory variation in populations informs transcriptome analysis in rare disease por Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, Jonah Einson, Christina Sousa, Paul Hoffman, Sandra Donkervoort, Zhuoxun Jiang, Payam Mohassel, A. Reghan Foley, Heather E. Wheeler, Hae Kyung Im, Carsten G. Bönnemann, Daniel G. MacArthur, Tuuli Lappalainen

    Publicado 2019
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  7. 7
    Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neurons

    Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neurons por Halil Tekin, Sean Simmons, Beryl B. Cummings, Linyi Gao, Xian Adiconis, Cynthia C. Hession, Ayan Ghoshal, Danielle Dionne, Sourav Choudhury, Volkan Yesilyurt, Neville E. Sanjana, Xi Shi, Congyi Lu, Matthias Heidenreich, Jen Q. Pan, Joshua Z. Levin, Feng Zhang

    Publicado 2018
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  8. 8
    Landscape of X chromosome inactivation across human tissues

    Landscape of X chromosome inactivation across human tissues por Taru Tukiainen, Alexandra‐Chloé Villani, Angela Yen, Manuel A. Rivas, Jamie L. Marshall, Rahul Satija, Matthew Aguirre, Laura D. Gauthier, Mark Fleharty, Andrew Kirby, Beryl B. Cummings, Stephane E. Castel, Konrad J. Karczewski, François Aguet, Andrea Byrnes, Tuuli Lappalainen, Aviv Regev, Kristin Ardlie, Nir Hacohen, Daniel G. MacArthur

    Publicado 2017
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  9. 9
    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant

    Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant por Sarah A. Sandaradura, Adam Bournazos, Amali Mallawaarachchi, Beryl B. Cummings, Leigh B. Waddell, Kristi Jones, Christopher Troedson, Annapurna Sudarsanam, Benjamin M. Nash, Gregory B. Peters, Elizabeth M. Algar, Daniel G. MacArthur, Kathryn N. North, Susan Brammah, Amanda Charlton, Nigel G. Laing, Meredith Wilson, Mark R. Davis, Sandra T. Cooper

    Publicado 2017
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  10. 10
    Landscape of X chromosome inactivation across human tissues

    Landscape of X chromosome inactivation across human tissues por Taru Tukiainen, Alexandra‐Chloé Villani, Angela Yen, Manuel A. Rivas, Jamie L. Marshall, Rahul Satija, Matthew Aguirre, Laura D. Gauthier, Mark Fleharty, Andrew Kirby, Beryl B. Cummings, Stephane E. Castel, Konrad J. Karczewski, François Aguet, Andrea Byrnes, Tuuli Lappalainen, Aviv Regev, Kristin Ardlie, Nir Hacohen, Daniel G. MacArthur

    Publicado 2016
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  11. 11
    Transcriptome variation in human tissues revealed by long-read sequencing

    Transcriptome variation in human tissues revealed by long-read sequencing por Dafni A. Glinos, Garrett Garborcauskas, Paul Hoffman, Nava Ehsan, Lihua Jiang, Alper Gokden, Xiaoguang Dai, François Aguet, Kathleen L. Brown, Kiran Garimella, Tera Bowers, Maura Costello, Kristin Ardlie, Ruiqi Jian, Nathan R. Tucker, Patrick T. Ellinor, Eoghan Harrington, Hua Tang, M Snyder, Sissel Juul, Pejman Mohammadi, Daniel G. MacArthur, Tuuli Lappalainen, Beryl B. Cummings

    Publicado 2022
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  12. 12
    An ANGPTL4 inhibitory antibody safely improves lipid profiles in non-human primates

    An ANGPTL4 inhibitory antibody safely improves lipid profiles in non-human primates por Beryl B. Cummings, Page Bouchard, Mark Milton, Peter F Moesta, Vyas Ramanan, John W. Trauger, Eleftheria Maratos–Flier, Andrei Voznesensky, Igor Splawski, Amitabh V. Nimonkar, Keith DiPetrillo, Daniel LaSala, Meihui Pan, Meghan Flaherty, François Huet, Sukhdeep K Sahambi, Jijun Dong, Deborah Knee, Régis Cèbe, Thomas Huber, Joshua Lehrer‐Graiwer, Rebecca A. Juliano, Ethan J. Weiss

    Publicado 2025
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  13. 13
    A shared inflammatory signature across severe malaria syndromes manifested by transcriptomic, proteomic and metabolomic analyses

    A shared inflammatory signature across severe malaria syndromes manifested by transcriptomic, proteomic and metabolomic analyses por Rafal S. Sobota, Emily M. Stucke, Drissa Coulibaly, Jonathan G. Lawton, Beryl B. Cummings, Sunit Sebastian, Antoine Dara, James B. Munro, Amed Ouattara, Abdoulaye K. Koné, Bourama Kané, Karim Traoré, Bouréima Guindo, Bourama Tangara, Amadou Niangaly, Noah T. Ventimiglia, Modibo Daou, Issa Diarra, Youssouf Tolo, Mody Sissoko, Fayçal Maïga, A. Diawara, Amidou Traore, Ali Thera, Matthew B. Laurens, Kirsten E. Lyke, Bourèma Kouriba, Ogobara K. Doumbo, Christopher V. Plowe, David R. Goodlett, Joana C. Silva, Mahamadou A. Théra, Mark A. Travassos

    Publicado 2025
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  14. 14
    A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

    A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies por Véronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S. Chen, Katherine Sizov, Matthew Nalls, Haiyan Zhou, Sara Aguti, Beryl B. Cummings, Monkol Lek, Taru Tukiainen, Jamie L. Marshall, Oded Regev, Dina Marek‐Yagel, Anna Sárközy, Russell J. Butterfield, Cristina Jou, C. Jimenez‐Mallebrera, Yan Li, Corine Gartioux, Kamel Mamchaoui, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Eric Hanssen, Steve D. Wilton, Shireen R. Lamandé, Daniel G. MacArthur, Raimund Wagener, Francesco Muntoni, Carsten G. Bönnemann

    Publicado 2019
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  15. 15
    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

    Recurrent <i>TTN</i> metatranscript‐only c.39974–11T&gt;G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy por Samantha J. Bryen, Lisa Ewans, Jason Pinner, Suzanna C. MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O’Grady, Beryl B. Cummings, Katherine R. Chao, Ben Weisburd, Laurent C. Francioli, Fathimath Faiz, Adam Bournazos, Ying Hu, Carla Grosmann, Denise Malicki, Helen Doyle, Nanna Witting, John Vissing, Kristl G. Claeys, Kathryn Urankar, Ana Beleza‐Meireles, Júlia Baptista, Sian Ellard, Marco Savarese, Mridul Johari, Anna Vihola, Bjarne Udd, Anirban Majumdar, Volker Straub, Carsten G. Bönnemann, Daniel G. MacArthur, Mark R. Davis, Sandra T. Cooper

    Publicado 2019
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  16. 16
    TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

    TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A por X. Rosa, Mercedes Prudencio, Yuka Koike, Sarat C. Vatsavayai, Garam Kım, Fred Harbinski, Adam Briner, Caitlin M. Rodriguez, Caiwei Guo, Tetsuya Akiyama, Hermann Broder Schmidt, Beryl B. Cummings, David W. Wyatt, Katherine Kurylo, Georgiana Miller, Shila Mekhoubad, Nathan Sallee, Gemechu Mekonnen, Laura R. Ganser, Jack D. Rubien, Karen Jansen‐West, Casey Cook, Sarah Pickles, Björn Oskarsson, Neill R. Graff‐Radford, Bradley F. Boeve, David S. Knopman, Ronald C. Petersen, Dennis W. Dickson, James Shorter, Sua Myong, Eric M. Green, William W. Seeley, Leonard Petrucelli, Aaron D. Gitler

    Publicado 2022
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  17. 17
    Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

    Improving genetic diagnosis in Mendelian disease with transcriptome sequencing por Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Véronique Bolduc, Leigh B. Waddell, Sarah A. Sandaradura, Gina O’Grady, Elicia Estrella, Hemakumar M. Reddy, Fengmei Zhao, Ben Weisburd, Konrad J. Karczewski, Anne O’Donnell‐Luria, Daniel Birnbaum, Anna Sárközy, Ying Hu, Hernán Gonorazky, Kristl G. Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark R. Davis, Nigel G. Laing, Ana Töpf, Peter B. Kang, Alan H. Beggs, Kathryn N. North, Volker Straub, James J. Dowling, Francesco Muntoni, Nigel F. Clarke, Sandra T. Cooper, Carsten G. Bönnemann, Daniel G. MacArthur

    Publicado 2016
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  18. 18
    Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

    Improving genetic diagnosis in Mendelian disease with transcriptome sequencing por Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Véronique Bolduc, Leigh B. Waddell, Sarah A. Sandaradura, Gina O’Grady, Elicia Estrella, Hemakumar M. Reddy, Fengmei Zhao, Ben Weisburd, Konrad J. Karczewski, Anne O’Donnell‐Luria, Daniel Birnbaum, Anna Sárközy, Ying Hu, Hernán Gonorazky, Kristl G. Claeys, Himanshu Joshi, Adam Bournazos, Emily C. Oates, Roula Ghaoui, Mark R. Davis, Nigel G. Laing, Ana Töpf, Peter B. Kang, Alan H. Beggs, Kathryn N. North, Volker Straub, James J. Dowling, Francesco Muntoni, Nigel F. Clarke, Sandra T. Cooper, Carsten G. Bönnemann, Daniel G. MacArthur

    Publicado 2017
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  19. 19
    Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

    Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization por Gina O’Grady, Heather Best, Tamar E. Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osório Lopes Abath Neto, R. Bryan Sutton, Biljana Ilkovski, Norma B. Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B. Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A. Ruparelia, Thierry Maisonobe, Anthony Peduto, Stephen W. Reddel, Monkol Lek, Taru Tukiainen, Beryl B. Cummings, Himanshu Joshi, Juliette Nectoux, Susan Brammah, Jean‐François Deleuze, Viola Oorschot Ing, Georg Ramm, Didem Ardıçlı, Kristen L. Nowak, Beril Talim, Haluk Topaloğlu, Nigel G. Laing, Kathryn N. North, Daniel G. MacArthur, Sylvie Friant, Nigel F. Clarke, Robert J. Bryson‐Richardson, Carsten G. Bönnemann, Jocelyn Laporte, Sandra T. Cooper

    Publicado 2016
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  20. 20
    The Genetic Landscape of Diamond-Blackfan Anemia

    The Genetic Landscape of Diamond-Blackfan Anemia por Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian, Michael H. Guo, Daniel Yuan, Leif S. Ludwig, Robert E. Handsaker, Nour J. Abdulhay, Claudia Fiorini, Giulio Genovese, Elaine T. Lim, Aaron Cheng, Beryl B. Cummings, Katherine R. Chao, Alan H. Beggs, Casie A. Genetti, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michał Matysiak, Adrianna Vlachos, Jeffrey M. Lipton, Eva Atsidaftos, Bertil Glader, Anupama Narla, Pierre‐Emmanuel Gleizes, Marie-Françoise O’Donohue, Nathalie Montel-Lehry, David J. Amor, Steven A. McCarroll, Anne O’Donnell‐Luria, Namrata Gupta, Stacey Gabriel, Daniel G. MacArthur, Eric S. Lander, Monkol Lek, Lydie Da Costa, David G. Nathan, А.A. Коростелев, Ron Do, Vijay G. Sankaran, Hanna T. Gazda

    Publicado 2018
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