Výsledky vyhledávání - Cédric Howald

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  1. 1
    Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

    Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes Autor Giuseppe Merla, Cédric Howald, Charlotte N. Henrichsen, Robert Lyle, Carine Wyss, M. T. Zabot, Stylianos E. Antonarakis, Alexandre Reymond

    Vydáno 2006
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  2. 2
    An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

    An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient Autor Giovanni Battista Ferrero, Cédric Howald, Lucia Micale, Elisa Biamino, Bartolomeo Augello, Carmela Fusco, Maria Giuseppina Turturo, Serena Forzano, Alexandre Reymond, Giuseppe Merla

    Vydáno 2009
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  3. 3
    Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

    Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions Autor Cédric Howald, Giuseppe Merla, M. Cristina Digilio, Styliani Amenta, Robert Lyle, Samuel Deutsch, Urmila Choudhury, Armand Bottani, Stylianos E. Antonarakis, Helen Fryssira, Bruno Dallapiccola, Alexandre Reymond

    Vydáno 2005
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  4. 4
    The GENCODE pseudogene resource

    The GENCODE pseudogene resource Autor Baikang Pei, Cristina Sisu, Adam Frankish, Cédric Howald, Lukas Habegger, Xinmeng Jasmine Mu, Rachel Harte, Suganthi Balasubramanian, Andrea Tanzer, Mark Diekhans, Alexandre Reymond, Tim Hubbard, Jennifer Harrow, Mark Gerstein

    Vydáno 2012
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  5. 5
    Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity

    Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity Autor Nikolaos Panousis, George Βertsias, Halit Ongen, Irini Gergianaki, Maria G. Tektonidou, Maria Trachana, Luciana Romano-Palumbo, Deborah Bielser, Cédric Howald, Cristina Pamfil, Antonis Fanouriakis, Δέσποινα Κοσμαρά, Argyro Repa, Prodromos Sidiropoulos, Emmanouil T. Dermitzakis, Dimitrios T. Boumpas

    Vydáno 2019
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  6. 6
    Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

    Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome Autor Cédric Howald, Andrea Tanzer, Jacqueline Chrast, Felix Kokocinski, Thomas Derrien, Nathalie Walters, José M. González, Adam Frankish, Bronwen Aken, Thibaut Hourlier, Jan-Hinnerk Vogel, Simon White, Stephen M. J. Searle, Jennifer Harrow, Tim Hubbard, Roderic Guigó, Alexandre Reymond

    Vydáno 2012
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  7. 7
    Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq)

    Extension of human lncRNA transcripts by RACE coupled with long-read high-throughput sequencing (RACE-Seq) Autor Julien Lagarde, Barbara Uszczyńska-Ratajczak, Javier Santoyo‐López, José M. González, Electra Tapanari, Jonathan M. Mudge, Charles A. Steward, Laurens Wilming, Andrea Tanzer, Cédric Howald, Jacqueline Chrast, Alicia Vela‐Boza, Antonio Rueda, Francisco J. López-Domingo, Joaquı́n Dopazo, Alexandre Reymond, Roderic Guigó, Jennifer Harrow

    Vydáno 2016
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  8. 8
    Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle

    Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle Autor Laurent Perrin, Ursula Loizides‐Mangold, Stéphanie Chanon, Cédric Gobet, Nicolas Hulo, Laura Isenegger, Benjamin D. Weger, Eugenia Migliavacca, Aline Charpagne, James A. Betts, Jean‐Philippe Walhin, Iain Templeman, Keith Stokes, Dylan Thompson, Kostas Tsintzas, Maud Robert, Cédric Howald, Howard Riezman, Jérôme N. Feige, Leonidas G. Karagounis, Jonathan D. Johnston, Emmanouil T. Dermitzakis, Frédéric Gachon, Étienne Lefai, Charna Dibner

    Vydáno 2018
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  9. 9
    Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

    Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11 Autor Christian R. Marshall, Edwin J. Young, Ariel M. Pani, Mary-Louise Freckmann, Yves Lacassie, Cédric Howald, Kristi K. Fitzgerald, Maarit Peippo, Colleen A. Morris, Kate Shane-Carson, Manuela Priolo, Masafumi Morimoto, Ikuko Kondo, Esra Manguoğlu, Sibel Berker-Karaüzüm, Patrick Edery, Holly H. Hobart, Carolyn Β. Mervis, Orsetta Zuffardi, Alexandre Reymond, Paige Kaplan, May Tassabehji, Ronald G. Gregg, Stephen W. Scherer, Lucy R. Osborne

    Vydáno 2008
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  10. 10
    Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

    Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency Autor Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Caroline Frei, Anna Bingisser, Sandra Goetze, Audrey van Drogen, Keith Harshman, Patrick G. A. Pedrioli, Cédric Howald, Martin Poms, Florian Traversi, Céline Bürer, Sarah Cherkaoui, Raphael J. Morscher, Luke Simmons, Merima Forny, Ioannis Xénarios, Ruedi Aebersold, Nicola Zamboni, Gunnar Rätsch, Emmanouil T. Dermitzakis, Bernd Wollscheid, Matthias R. Baumgartner, D. Sean Froese

    Vydáno 2023
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  11. 11
    Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers

    Genome-wide Association Study Identifies Shared Risk Loci Common to Two Malignancies in Golden Retrievers Autor Noriko Tonomura, Ingegerd Elvers, Rachael Thomas, Kate Megquier, Jason Turner-Maier, Cédric Howald, Aaron L. Sarver, Ross Swofford, Aric M. Frantz, Daisuke Ito, Evan Mauceli, Maja L. Arendt, Hyun Ji Noh, Michele Koltookian, Tara Biagi, Sarah Fryc, Christina L. Williams, Anne C. Avery, Jong Hyuk Kim, Lisa G. Barber, Kristine Burgess, Eric S. Lander, Elinor K. Karlsson, Chieko Azuma, Jaime F. Modiano, Matthew Breen, Kerstin Lindblad‐Toh

    Vydáno 2015
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  12. 12
    Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B

    Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B Autor Elinor K. Karlsson, Snævar Sigurðsson, Emma Ivansson, Rachael Thomas, Ingegerd Elvers, Jason Wright, Cédric Howald, Noriko Tonomura, Michele Perloski, Ross Swofford, Tara Biagi, Sarah Fryc, Nathan Anderson, Céline Courtay-Cahen, Lisa Youell, Sally L. Ricketts, Sarah Mandlebaum, Patricio Rivera, Henrik von Euler, William C. Kisseberth, Cheryl A. London, Eric S. Lander, Guillermo Couto, Kenine E. Comstock, Mike Starkey, Jaime F. Modiano, Matthew Breen, Kerstin Lindblad‐Toh

    Vydáno 2013
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  13. 13
    Evidence for Transcript Networks Composed of Chimeric RNAs in Human Cells

    Evidence for Transcript Networks Composed of Chimeric RNAs in Human Cells Autor Sarah Djebali, Julien Lagarde, Philipp Kapranov, Vincent Lacroix, Christelle Borel, Jonathan M. Mudge, Cédric Howald, Sylvain Foissac, Catherine Ucla, Jacqueline Chrast, Paolo Ribeca, David Martı́n, Ryan R. Murray, Xinping Yang, Lila Ghamsari, Chenwei Lin, Ian Bell, Erica Dumais, Jörg Drenkow, Michael L. Tress, Josep Lluis Gelpí, Modesto Orozco, Alfonso Valencia, Nynke L. van Berkum, Bryan R. Lajoie, Marc Vidal, J Stamatoyannopoulos, Philippe Batut, Alexander Dobin, Jennifer Harrow, Tim Hubbard, Job Dekker, Adam Frankish, Kourosh Salehi‐Ashtiani, Alexandre Reymond, Stylianos E. Antonarakis, Roderic Guigó, T Gingeras

    Vydáno 2012
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  14. 14
    GENCODE: The reference human genome annotation for The ENCODE Project

    GENCODE: The reference human genome annotation for The ENCODE Project Autor Jennifer Harrow, Adam Frankish, José M. González, Electra Tapanari, Mark Diekhans, Felix Kokocinski, Bronwen Aken, Daniel Barrell, Amonida Zadissa, Stephen M. J. Searle, If Barnes, Alexandra Bignell, Veronika Boychenko, Toby Hunt, Mike Kay, Gaurab Mukherjee, Jeena Rajan, Gloria Despacio-Reyes, Gary Saunders, Charles A. Steward, Rachel Harte, Michael Lin, Cédric Howald, Andrea Tanzer, Thomas Derrien, Jacqueline Chrast, Nathalie Walters, Suganthi Balasubramanian, Baikang Pei, Michael L. Tress, José Manuel Rodrı́guez, Iakes Ezkurdia, Jeltje van Baren, Michael R. Brent, David Haussler, Manolis Kellis, Alfonso Valencia, Alexandre Reymond, Mark Gerstein, Roderic Guigó, Tim Hubbard

    Vydáno 2012
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  15. 15
    Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

    Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D Autor Ana Viñuela, Arushi Varshney, Martijn van de Bunt, Rashmi B. Prasad, Olof Asplund, Amanda J. Bennett, Michael Boehnke, Andrew Brown, Michael R. Erdos, João Fadista, Ola Hansson, Gad Hatem, Cédric Howald, Apoorva K. Iyengar, Toby Johnson, Ulrika Krus, Patrick E. MacDonald, Anubha Mahajan, Jocelyn E. Manning Fox, Narisu Narisu, Vibe Nylander, Peter Orchard, Nikolay Oskolkov, Nikolaos Panousis, A. J. Payne, Michael L. Stitzel, Swarooparani Vadlamudi, Ryan Welch, Francis S. Collins, Karen L. Mohlke, Anna L. Gloyn, Laura J. Scott, Emmanouil T. Dermitzakis, Leif Groop, Stephen C. J. Parker, Mark I. McCarthy

    Vydáno 2020
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  16. 16
    Landscape of transcription in human cells

    Landscape of transcription in human cells Autor Sarah Djebali, Carrie Davis, Angelika Merkel, Alexander Dobin, Timo Lassmann, A Mortazavi, Andrea Tanzer, Julien Lagarde, Wei Lin, Felix Schlesinger, Chenghai Xue, Georgi K. Marinov, Jainab Khatun, Brian A. Williams, Chris Zaleski, Joel Rozowsky, Maik Röder, Felix Kokocinski, Rehab Abdelhamid, Tyler Alioto, Igor Antoshechkin, Michael T. Baer, Nadav Bar, Philippe Batut, Kimberly Bell, Ian Bell, Sudipto K. Chakrabortty, Xian Chen, Jacqueline Chrast, João Curado, Thomas Derrien, Jörg Drenkow, Erica Dumais, Jacqueline Dumais, Radha Duttagupta, Emilie Falconnet, Meagan Fastuca, Kata Fejes-Toth, Pedro G. Ferreira, Sylvain Foissac, Melissa J. Fullwood, Hui Gao, David González, Assaf Gordon, Harsha P. Gunawardena, Cédric Howald, Sonali Jha, Rory Johnson, Philipp Kapranov, Brandon King, Colin Kingswood, Oscar Junhong Luo, Eddie Park, Kimberly Persaud, Jonathan Preall, Paolo Ribeca, Brian A. Risk, Daniel Robyr, Michael Sammeth, Lorian Schaffer, Lei-Hoon See, Atif Shahab, Jørgen Skancke, Ana Maria Suzuki, Hazuki Takahashi, Hagen Tilgner, Diane Trout, Nathalie Walters, Huaien Wang, John A. Wrobel, Yanbao Yu, Xiaoan Ruan, Yoshihide Hayashizaki, Jennifer Harrow, Mark Gerstein, Tim Hubbard, Alexandre Reymond, Stylianos E. Antonarakis, Gregory J. Hannon, Morgan C. Giddings, Yijun Ruan, B Wold, Piero Carninci, Roderic Guigó, T Gingeras

    Vydáno 2012
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  17. 17
    Comparative analysis of the transcriptome across distant species

    Comparative analysis of the transcriptome across distant species Autor Mark Gerstein, Joel Rozowsky, Koon‐Kiu Yan, Daifeng Wang, Chao Cheng, James B. Brown, Carrie Davis, LaDeana Hillier, Cristina Sisu, Jingyi Jessica Li, Baikang Pei, Arif Harmanci, Michael O. Duff, Sarah Djebali, Roger P. Alexander, B. Alver, Raymond K. Auerbach, Kimberly Bell, Peter J. Bickel, Max E. Boeck, Nathan P. Boley, Benjamin W. Booth, Lucy Cherbas, Peter Cherbas, Chao Di, Alexander Dobin, Jörg Drenkow, Brent Ewing, Gang Fang, Megan Fastuca, Elise A. Feingold, Adam Frankish, Guanjun Gao, Peter J. Good, Roderic Guigó, Ann S. Hammonds, Jennifer Harrow, Roger A. Hoskins, Cédric Howald, Long Hu, Haiyan Huang, Tim Hubbard, Chau Huynh, Sonali Jha, Dionna M. Kasper, Masaomi Kato, Thomas C. Kaufman, Robert R. Kitchen, Erik Ladewig, Julien Lagarde, Eric C. Lai, Jing Leng, Zhi John Lu, Michael J. MacCoss, Gemma E. May, Rebecca McWhirter, Gennifer E. Merrihew, David M. Miller, A Mortazavi, Rabi Murad, Brian Oliver, Sara Olson, Peter J. Park, Michael J. Pazin, Norbert Perrimon, Dmitri D. Pervouchine, V Reinke, Alexandre Reymond, Garrett Robinson, Anastasia Samsonova, Gary Saunders, Felix Schlesinger, Anurag Sethi, Frank J. Slack, William C. Spencer, Marcus H. Stoiber, Pnina Strasbourger, Andrea Tanzer, Owen Thompson, Kenneth H. Wan, Guilin Wang, Huaien Wang, Kathie L. Watkins, Jiayu Wen, Kejia Wen, Chenghai Xue, Li Yang, Kevin Y. Yip, Chris Zaleski, Yan Zhang, Henry Zheng, Steven E. Brenner, Brenton R. Graveley, S Celniker, T Gingeras, R Waterston

    Vydáno 2014
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  18. 18
    Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

    Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics Autor Alvaro Barbeira, Scott Dickinson, Rodrigo Bonazzola, Jiamao Zheng, Heather E. Wheeler, Jason Torres, Eric S. Torstenson, Kaanan P. Shah, Tzintzuni Garcia, Todd L. Edwards, Eli A. Stahl, Laura M. Huckins, François Aguet, Kristin Ardlie, Beryl B. Cummings, Ellen Gelfand, Gad Getz, Kane Hadley, Robert E. Handsaker, Katherine Huang, Seva Kashin, Konrad J. Karczewski, Monkol Lek, Xiao Li, Daniel G. MacArthur, Jared L. Nedzel, Duyen T. Nguyen, Michael S. Noble, Ayellet V. Segrè, Casandra A. Trowbridge, Taru Tukiainen, Nathan S. Abell, Brunilda Balliu, Ruth Barshir, Omer Basha, Alexis Battle, Gireesh K. Bogu, Andrew Brown, Christopher Brown, Stephane E. Castel, Lin Chen, Colby Chiang, Donald F. Conrad, Farhan N. Damani, Joe R. Davis, Olivier Delaneau, Emmanouil T. Dermitzakis, Barbara E. Engelhardt, Eleazar Eskin, Pedro G. Ferreira, Laure Frésard, Eric R. Gamazon, Diego Garrido-Martín, Ariel DH Gewirtz, Genna Gliner, Michael J. Gloudemans, Roderic Guigó, Ira M. Hall, Buhm Han, Yuan He, Farhad Hormozdiari, Cédric Howald, Brian Jo, Eun Yong Kang, Yungil Kim, Sarah Kim-Hellmuth, Tuuli Lappalainen, Gen Li, Xin Li, Boxiang Liu, Serghei Mangul, Mark I. McCarthy, Ian C. McDowell, Pejman Mohammadi, Jean Monlong, Stephen B. Montgomery, Manuel Muñoz-Aguirre, Anne W. Ndungu, Andrew B. Nobel, Meritxell Oliva, Halit Ongen, John Palowitch, Nikolaos Panousis, Panagiotis Papasaikas, YoSon Park, Princy Parsana, A. J. Payne, Christine B. Peterson, Jie Quan, Ferrán Reverter, Chiara Sabatti, Ashis Saha, Michael Sammeth, Alexandra J. Scott, Andrey A. Shabalin, Reza Sodaei, Matthew Stephens, Barbara E. Stranger, Benjamin J. Strober, Jae Hoon Sul

    Vydáno 2018
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  19. 19
    Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits

    Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits Autor Andrew Brown, Juan Fernández‐Tajes, Mun‐Gwan Hong, Caroline Brorsson, Robert W. Koivula, David Davtian, Théo Dupuis, Ambra Sartori, Theodora-Dafni Michalettou, Ian Forgie, Jonathan Adam, Kristine H. Allin, Robert Caïazzo, Henna Cederberg, Federico De Masi, Petra J. M. Elders, Giuseppe N. Giordano, Mark Haid, Torben Hansen, Tue H. Hansen, Andrew T. Hattersley, Alison Heggie, Cédric Howald, Angus G. Jones, Tarja Kokkola, Markku Laakso, Anubha Mahajan, Andrea Mari, Timothy J. McDonald, Donna McEvoy, Miranda Mourby, Petra B. Musholt, Birgitte Nilsson, François Pattou, Deborah Penet, Violeta Raverdy, Martin Ridderstråle, Luciana Romano, Femke Rutters, Sapna Sharma, Harriet Teare, Leen M. ’t Hart, Konstantinos D. Tsirigos, Jagadish Vangipurapu, Henrik Vestergaard, Søren Brunak, Paul W. Franks, Gary Frost, Harald Grallert, Bernd Jablonka, Mark I. McCarthy, Imre Pávó, Oluf Pedersen, Hartmut Ruetten, Mark Walker, Kofi P. Adragni, Rosa Lundbye Allesøe, Anna A. Artati, Manimozhiyan Arumugam, Naeimeh Atabaki‐Pasdar, Tania Baltauss, Karina Banasik, Anna Barnett, Patrick Baum, Jimmy D. Bell, Joline W. J. Beulens, Susanna Bianzano, Roberto Bizzotto, Amélie Bonnefond, Louise Cabrelli, Matilda Dale, Adem Y. Dawed, Nathalie de Préville, Koen F. Dekkers, Harshal Deshmukh, Christiane Dings, Louise A. Donnelly, Avirup Dutta, Beate Ehrhardt, Line Engelbrechtsen, Rebeca Eriksen, Yong Fan, Jorge Ferrer, Hugo Fitipaldi, Annemette Forman, Andreas Fritsche, Philippe Froguel, Johann Gassenhuber, Stephen Gough, Ulrike Graefe‐Mody, Rolf Grempler, Lenka Groeneveld, Leif Groop, Valborg Guðmundsdóttir, Ramneek Gupta, Anita M. Hennige, Anita Hill, Reinhard W. Holl, Michelle Hudson, Ulrik Plesner Jacobsen

    Vydáno 2023
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