Search Results - Simon Brent

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  1. 1
    Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER

    Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER by Eleni Anthippi Chatzimichali, Simon Brent, Benjamin Hutton, Daniel Perrett, Caroline F. Wright, A. Paul Bevan, Matthew E. Hurles, Helen V. Firth, G. Jawahar Swaminathan

    Published 2015
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  2. 2
    Ensembl variation resources

    Ensembl variation resources by Yuan Chen, Fiona Cunningham, Daniel Ríos, William McLaren, James Smith, Bethan Pritchard, Giulietta Spudich, Simon Brent, Eugene Kulesha, Pablo Marín-García, Damian Smedley, Ewan Birney, Paul Flicek

    Published 2010
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  3. 3
    Ensembl comparative genomics resources

    Ensembl comparative genomics resources by Javier Herrero, Matthieu Muffato, Kathryn Beal, Stephen Fitzgerald, Leo I. Gordon, Miguel Pignatelli, Albert J. Vilella, Stephen M. J. Searle, Ridwan Amode, Simon Brent, William Spooner, Eugene Kulesha, Andrew Yates, Paul Flicek

    Published 2016
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  4. 4
    Ensembl comparative genomics resources

    Ensembl comparative genomics resources by Javier Herrero, Matthieu Muffato, Kathryn Beal, Stephen Fitzgerald, Leo I. Gordon, Miguel Pignatelli, Albert J. Vilella, Stephen M. J. Searle, Ridwan Amode, Simon Brent, William Spooner, Eugene Kulesha, Andrew Yates, Paul Flicek

    Published 2016
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  5. 5
    Ensembl regulation resources

    Ensembl regulation resources by Daniel R. Zerbino, Nathan Johnson, Thomas Juetteman, Dan Sheppard, Steven P. Wilder, Ilias Lavidas, Michael Nuhn, Emily Perry, Quentin Raffaillac-Desfosses, Daniel Sobral, Damian Keefe, Stefan Gräf, Ikhlak Ahmed, Rhoda Kinsella, Bethan Pritchard, Simon Brent, Ridwan Amode, Anne Parker, Stephen J. Trevanion, Ewan Birney, Ian Dunham, Paul Flicek

    Published 2016
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  6. 6
    Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

    Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland by Caroline F. Wright, Patrick Campbell, Ruth Y. Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J. Gardner, V. Kartik Chundru, Sarah Lindsay, Katrina Andrews, Juliet E. Hampstead, Joanna Kaplanis, Kaitlin E. Samocha, Anna Middleton, Julia Foreman, Rachel J. Hobson, Michael Parker, Hilary C. Martin, David Fitzpatrick, Matthew E. Hurles, Helen V. Firth

    Published 2023
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  7. 7
    Ensembl 2014

    Ensembl 2014 by Paul Flicek, M Ridwan Amode, Daniel Barrell, Kathryn Beal, Konstantinos Billis, Simon Brent, Denise Carvalho‐Silva, Peter Clapham, Guy Coates, Stephen Fitzgerald, Laurent Gil, Carlos García Girón, Leo I. Gordon, Thibaut Hourlier, Sarah Hunt, Nathan Johnson, Thomas Juettemann, Andreas Kähäri, Stephen Keenan, Eugene Kulesha, Fergal J. Martin, Thomas Maurel, William McLaren, Daniel N. Murphy, Rishi Nag, Bert Overduin, Miguel Pignatelli, Bethan Pritchard, Emily Pritchard, Harpreet Singh Riat, Magali Ruffier, Dan Sheppard, Kieron Taylor, Anja Thormann, Stephen J. Trevanion, Alessandro Vullo, Steven P. Wilder, Mark Wilson, Amonida Zadissa, Bronwen Aken, Ewan Birney, Fiona Cunningham, Jennifer Harrow, Javier Herrero, Tim Hubbard, Rhoda Kinsella, Matthieu Muffato, Anne Parker, Giulietta Spudich, Andrew Yates, Daniel R. Zerbino, Stephen M. J. Searle

    Published 2013
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  8. 8
    Ensembl 2015

    Ensembl 2015 by Fiona Cunningham, M Ridwan Amode, Daniel Barrell, Kathryn Beal, Konstantinos Billis, Simon Brent, Denise Carvalho‐Silva, Peter Clapham, Guy Coates, Stephen Fitzgerald, Laurent Gil, Carlos García Girón, Leo I. Gordon, Thibaut Hourlier, Sarah Hunt, Sophie H. Janacek, Nathan Johnson, Thomas Juettemann, Andreas Kähäri, Stephen Keenan, Fergal J. Martin, Thomas Maurel, William McLaren, Daniel N. Murphy, Rishi Nag, Bert Overduin, Anne Parker, Mateus Patrício, Emily Perry, Miguel Pignatelli, Harpreet Singh Riat, Dan Sheppard, Kieron Taylor, Anja Thormann, Alessandro Vullo, Steven P. Wilder, Amonida Zadissa, Bronwen Aken, Ewan Birney, Jennifer Harrow, Rhoda Kinsella, Matthieu Muffato, Magali Ruffier, Stephen M. J. Searle, Giulietta Spudich, Stephen J. Trevanion, Andrew Yates, Daniel R. Zerbino, Paul Flicek

    Published 2014
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  9. 9
    Ensembl's 10th year

    Ensembl's 10th year by Paul Flicek, Bronwen Aken, Benoît Ballester, Kathryn Beal, Eugene Bragin, Simon Brent, Yuan Chen, Peter Clapham, Guy Coates, Susan Fairley, Stephen Fitzgerald, Julio Fernandez-Banet, Leo I. Gordon, Stefan Gräf, Syed Haider, M. Hammond, Kerstin Howe, Andy Jenkinson, Nathan Johnson, Andreas Kähäri, Damian Keefe, Stephen Keenan, Rhoda Kinsella, Felix Kokocinski, Gautier Koscielny, Eugene Kulesha, Daniel Lawson, Ian Longden, Tim Massingham, William McLaren, Karyn Mégy, Bert Overduin, Bethan Pritchard, Daniel Ríos, Magali Ruffier, Michael Schuster, Guy Slater, Damian Smedley, Giulietta Spudich, Amy Tang, Stephen J. Trevanion, Albert J. Vilella, Jan Vogel, Simon White, Steven P. Wilder, Amonida Zadissa, Ewan Birney, Fiona Cunningham, Ian Dunham, Richard Durbin, Xosé M. Fernández, Javier Herrero, Tim Hubbard, Anne Parker, Glenn Proctor, James Smith, Stephen M. J. Searle

    Published 2009
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  10. 10
    Ensembl 2013

    Ensembl 2013 by Paul Flicek, Ikhlak Ahmed, M Ridwan Amode, Daniel Barrell, Kathryn Beal, Simon Brent, Denise Carvalho‐Silva, Peter Clapham, Guy Coates, Susan Fairley, Stephen Fitzgerald, Laurent Gil, Carlos García Girón, Leo I. Gordon, Thibaut Hourlier, Sarah Hunt, Thomas Juettemann, Andreas Kähäri, Stephen Keenan, Monika Komorowska, Eugene Kulesha, Ian Longden, Thomas Maurel, William McLaren, Matthieu Muffato, Rishi Nag, Bert Overduin, Miguel Pignatelli, Bethan Pritchard, Emily Pritchard, Harpreet Singh Riat, Graham R. S. Ritchie, Magali Ruffier, Michael Schuster, Dan Sheppard, Daniel Sobral, Kieron Taylor, Anja Thormann, Stephen J. Trevanion, Simon White, Steven P. Wilder, Bronwen Aken, Ewan Birney, Fiona Cunningham, Ian Dunham, Jennifer Harrow, Javier Herrero, Tim Hubbard, Nathan Johnson, Rhoda Kinsella, Anne Parker, Giulietta Spudich, Andrew Yates, Amonida Zadissa, Stephen M. J. Searle

    Published 2012
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  11. 11
    Ensembl 2009

    Ensembl 2009 by Tim Hubbard, Bronwen Aken, Sarah Ayling, Benoît Ballester, Kathryn Beal, Eugene Bragin, Simon Brent, Y. Chen, Peter Clapham, Laura Clarke, Guy Coates, Susan Fairley, Stephen Fitzgerald, Julio Fernandez-Banet, Leo I. Gordon, Stefan Gräf, Syed Haider, M. Hammond, Richard Holland, Kerstin Howe, Andy Jenkinson, Nathan Johnson, Andreas Kähäri, D. Keefe, Stephen Keenan, Rhoda Kinsella, Felix Kokocinski, Eugene Kulesha, Daniel Lawson, I. Longden, Karyn Mégy, P. Meidl, Bert Overduin, Anne Parker, Bethan Pritchard, Daniel Ríos, Michael Schuster, Guy Slater, D. Smedley, W. Spooner, Giulietta Spudich, Stephen J. Trevanion, Albert J. Vilella, JĂśrg Vogel, Simon White, Steven P. Wilder, Amonida Zadissa, Ewan Birney, Fiona Cunningham, V. Curwen, Richard Durbin, Xosé M. Fernández, Javier Herrero, A. Kasprzyk, Glenn Proctor, James Smith, Stephen M. J. Searle, Paul Flicek

    Published 2008
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  12. 12
    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study

    Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study by Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali

    Published 2016
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  13. 13
    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders by Víctor Faúndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson

    Published 2017
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  14. 14
    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia by Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis‐Juan, Keren Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit Pressler, Michael A. Simpson, Geoff Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, J Gordon Millichap, Gemma L. Carvill, Jill Clayton‐Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro

    Published 2019
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