Search Results - Karyn Mégy
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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children by Courtney E. French, Isabelle Delon, Helen Dolling, Alba Sanchis‐Juan, Olga Shamardina, Karyn Mégy, Stephen Abbs, Topun Austin, Sarah Bowdin, Ricardo Garcia Branco, Helen V. Firth, David H. Rowitch, F. Lucy Raymond
Published 2019Artigo -
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Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH by Karyn Mégy, Kate Downes, Ilenia Simeoni, Loredana Bury, Joannella Morales, Rutendo Mapeta, Daniel B. Bellissimo, Paul F. Bray, Anne Goodeve, Paolo Gresele, Michele P. Lambert, Pieter H. Reitsma, Willem H. Ouwehand, Kathleen Freson
Published 2019Artigo -
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ArrayExpress update—simplifying data submissions by N. N. Kolesnikov, Emma Hastings, Maria Keays, Olga Melnichuk, Amy Tang, Eleanor Williams, Miroslaw Dylag, Natalja Kurbatova, Marco Brandizi, Tony Burdett, Karyn Mégy, Ekaterina Pilicheva, Gabriella Rustici, Andrew Tikhonov, Helen Parkinson, Robert Petryszak, Uğis Sarkans, Alvis Brāzma
Published 2014Artigo -
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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thr... by Karyn Mégy, Kate Downes, Marie‐Christine Morel‐Kopp, José María Bastida, Shannon Brooks, Loredana Bury, Eva Leinøe, Keith Gomez, Neil V. Morgan, Maha Othman, Willem H. Ouwehand, Juliana Perez Botero, José Rivera, Harald Schulze, David‐Alexandre Trégouët, Kathleen Freson
Published 2021Artigo -
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Ensembl Genomes: Extending Ensembl across the taxonomic space by Paul Kersey, Daniel Lawson, Ewan Birney, Paul Derwent, Matthias Haimel, Javier Herrero, Stephen Keenan, Arnaud Kerhornou, Gautier Koscielny, Andreas Kähäri, R. J. Kinsella, Eugene Kulesha, Uma Maheswari, Karyn Mégy, Michael Nuhn, Glenn Proctor, D. Staines, F. Valentin, Albert J. Vilella, Andrew Yates
Published 2009Artigo -
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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia by Claire L. Shovlin, Ilenia Simeoni, Kate Downes, Zoe C. Frazer, Karyn Mégy, María E Bernabeu-Herrero, Abigail Shurr, Jennifer Brimley, Dilipkumar Patel, Loren Kell, Jonathan Stephens, Isobel G. Turbin, Micheala A. Aldred, Christopher J. Penkett, Willem H. Ouwehand, Luca Jovine, Ernest Turro
Published 2020Artigo -
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Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species by Paul Kersey, D. Staines, Daniel Lawson, Eugene Kulesha, Paul Derwent, Jay C. Humphrey, Daniel S. T. Hughes, Stephen Keenan, Arnaud Kerhornou, Gautier Koscielny, Nicholas Langridge, Mark D. McDowall, Karyn Mégy, Uma Maheswari, Michael Nuhn, Michael Paulini, Helder Pedro, Iliana Toneva, Derek A. Wilson, Andrew Yates, Ewan Birney
Published 2011Artigo -
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Expression Atlas update—a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments by Robert Petryszak, Tony Burdett, Benedetto Fiorelli, Nuno A. Fonseca, Mar González-Porta, Emma Hastings, Wolfgang Huber, Simon Jupp, Maria Keays, Nataliya Kryvych, Julie A. McMurry, John C. Marioni, James Malone, Karyn Mégy, Gabriella Rustici, Amy Tang, Jan Taubert, Eleanor Williams, Oliver Mannion, Helen Parkinson, Alvis Brāzma
Published 2013Artigo -
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing by Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher J. Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren Carss
Published 2018Artigo -
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Expression Atlas update—an integrated database of gene and protein expression in humans, animals and plants by Robert Petryszak, Maria Keays, Amy Tang, Nuno A. Fonseca, Elisabet Barrera, Tony Burdett, Anja Füllgrabe, Alfonso Muñoz-Pomer Fuentes, Simon Jupp, Satu Koskinen, Oliver Mannion, Laura Huerta, Karyn Mégy, Catherine Snow, Eleanor Williams, Mitra Barzine, Emma Hastings, Hendrik Weisser, James C. Wright, Pankaj Jaiswal, Wolfgang Huber, Jyoti S. Choudhary, Helen Parkinson, Alvis Brāzma
Published 2015Artigo -
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Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy by Adam P. Levine, Melanie Chan, Omid Sadeghi‐Alavijeh, Edwin Wong, H. Terence Cook, Sofie Ashford, Keren Carss, Martin Christian, Matthew Hall, Claire L. Harris, Paul McAlinden, Kevin J. Marchbank, Stephen D. Marks, Heather Maxwell, Karyn Mégy, Christopher J. Penkett, Monika Mozere, Kathleen Stirrups, Salih Tuna, Julie Wessels, Deborah Whitehorn, Sally Johnson, Daniel P. Gale
Published 2020Artigo -
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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia by Claire Lentaigne, Daniel Greene, Suthesh Sivapalaratnam, Rémi Favier, Denis Seyres, Chantal Thys, Luigi Grassi, Sarah Mangles, Keith Sibson, Matthew Stubbs, Frances Burden, Jean‐Claude Bordet, Corinne Armari‐Alla, Wendy N. Erber, Samantha Farrow, Nicholas Gleadall, Keith Gomez, Karyn Mégy, Sofia Papadia, Christopher J. Penkett, Matthew C. Sims, Luca Stefanucci, Jonathan Stephens, Randy J. Read, Kathleen Stirrups, Willem H. Ouwehand, Michael Laffan, Mattia Frontini, Kathleen Freson, Ernest Turro
Published 2019Artigo -
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Investigating genotype–phenotype relationship of extreme neuropathic pain disorders in a UK national cohort by Andreas C. Themistocleous, Georgios Baskozos, Iulia Blesneac, Maddalena Comini, Karyn Mégy, Sam Chong, Sri V. V. Deevi, Lionel Ginsberg, David Gosal, Robert D. M. Hadden, Rita Horváth, Mohamed Mahdi‐Rogers, Adnan Manzur, Rutendo Mapeta, Andrew Marshall, Emma Matthews, Mark I. McCarthy, Mary M. Reilly, Tara Renton, Andrew S.C. Rice, Tom Vale, Natalie Van Zuydam, Suellen M. Walker, C. Geoffrey Woods, David Bennett
Published 2023Artigo -
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VectorBase: a data resource for invertebrate vector genomics by Daniel Lawson, Peter Arensburger, Peter W. Atkinson, N. J. Besansky, Robert V. Bruggner, R. Butler, Kathryn S. Campbell, George K. Christophides, Scott Christley, Emmanuel Dialynas, M. Hammond, Catherine A. Hill, N. Konopinski, Neil F. Lobo, Robert M. MacCallum, Gregory R. Madey, Karyn Mégy, Jason M. Meyer, Seth Redmond, David W. Severson, E. O. Stinson, Pantelis Topalis, Ewan Birney, William M Gelbart, Fotis C. Kafatos, Christos Louis, Frank H. Collins
Published 2008Artigo -
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VectorBase: a home for invertebrate vectors of human pathogens by Daniel Lawson, Peter Arensburger, Peter W. Atkinson, Nora J. Besansky, Robert V. Bruggner, R. Butler, Kathryn S. Campbell, George K. Christophides, Scott Christley, Emmanuel Dialynas, David Emmert, M. Hammond, Catherine A. Hill, Ronald C. Kennedy, Neil F. Lobo, Robert M. MacCallum, Gregory R. Madey, Karyn Mégy, Seth Redmond, Silvia Russo, David W. Severson, E. O. Stinson, Pantelis Topalis, Evgeny M. Zdobnov, Ewan Birney, William M Gelbart, Fotis C. Kafatos, Christos Louis, Frank H. Collins
Published 2006Artigo -
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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders by Kate Downes, Karyn Mégy, Daniel Duarte, Minka J. A. Vries, Johanna Gebhart, Stefanie Hofer, Olga Shamardina, Sri V. V. Deevi, Jonathan Stephens, Rutendo Mapeta, Salih Tuna, Namir Al Hasso, Martin Besser, Nichola Cooper, Louise C. Daugherty, Nick Gleadall, Daniel Greene, Matthias Haimel, Howard Martin, Sofia Papadia, Shoshana Revel‐Vilk, Suthesh Sivapalaratnam, Emily Symington, Will Thomas, Chantal Thys, Alexander Tolios, Christopher J. Penkett, Willem H. Ouwehand, Stephen Abbs, Michael Laffan, Ernest Turro, Ilenia Simeoni, Andrew Mumford, Yvonne Henskens, Ingrid Pabinger, Keith Gomez, Kathleen Freson
Published 2019Artigo
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