Search Results - Simon Ramsden

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  1. 1
    Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

    Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes by Simon Ramsden, Jill Clayton‐Smith, Rachael Birch, Karin Buiting

    Published 2010
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  2. 2
    Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias

    Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias by Michael D. Briggs, Joanne Brock, Simon Ramsden, Peter A. Bell

    Published 2014
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  3. 3
    Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

    Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes by Jasmin Beygo, Karin Buiting, Simon Ramsden, Rachael Ellis, Jill Clayton‐Smith, Deniz Kanber

    Published 2019
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  4. 4
    <i>RPGR</i>mutation analysis and disease: an update

    <i>RPGR</i>mutation analysis and disease: an update by Xinhua Shu, Graeme Black, Jacqueline M. Rice, Niki Hart‐Holden, Alison Jones, Anna O’Grady, Simon Ramsden, Alan F. Wright

    Published 2006
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  5. 5
    A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

    A paradigm shift in the delivery of services for diagnosis of inherited retinal disease by James O’Sullivan, Brendan G Mullaney, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Georgina Hall, Anna O’Grady, Andrew R. Webster, Simon Ramsden, Graeme Black

    Published 2012
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  6. 6
    Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa

    Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa by M. Dominik Fischer, Michelle E. McClements, Cristina Martínez-Fernández de la Cámara, Julia-Sophia Bellingrath, Daniyar Dauletbekov, Simon Ramsden, Doron Hickey, Alun R. Barnard, Robert E. MacLaren

    Published 2017
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  7. 7
    Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

    Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases by Jamie M. Ellingford, Bradley Horn, Christopher Campbell, Gavin Arno, Stephanie Barton, Catriona Tate, Sanjeev S. Bhaskar, Panagiotis I. Sergouniotis, Rachel L. Taylor, Keren Carss, Lucy F. Raymond, Michel Michaelides, Simon Ramsden, Andrew R. Webster, Graeme Black

    Published 2017
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  8. 8
    Validation of copy number variation analysis for next-generation sequencing diagnostics

    Validation of copy number variation analysis for next-generation sequencing diagnostics by Jamie M. Ellingford, Christopher Campbell, Stephanie Barton, Sanjeev S. Bhaskar, Saurabh Gupta, Rachel L. Taylor, Panagiotis I. Sergouniotis, Bradley Horn, Janine A. Lamb, Michel Michaelides, Andrew R. Webster, William G. Newman, Binay Panda, Simon Ramsden, Graeme Black

    Published 2017
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  9. 9
    Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i>

    Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i> by Sarah Hull, Nicholas Owen, Farrah Islam, Dhani Tracey‐White, Vincent Plagnol, Graham E. Holder, Michel Michaelides, Keren Carss, F. Lucy Raymond, Jean‐Michel Rozet, Simon Ramsden, Graeme Black, Isabelle Perrault, Ajoy Sarkar, Mariya Moosajee, Andrew R. Webster, Gavin Arno, Anthony T. Moore

    Published 2016
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  10. 10
    Molecular findings from 537 individuals with inherited retinal disease

    Molecular findings from 537 individuals with inherited retinal disease by Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, James O’Sullivan, Simon G. Williams, Janine A. Lamb, Binay Panda, Panagiotis I. Sergouniotis, Rachel Gillespie, Stephen P. Daiger, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Paul N. Bishop, Simon Ramsden, Graeme Black

    Published 2016
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  11. 11
    Clinical and genetic variability in children with partial albinism

    Clinical and genetic variability in children with partial albinism by Patrick Campbell, Jamie M. Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon Ramsden, Theodora Gale, Georgina Hall, Katherine R. Smith, Dalia Kasperavičiūtė, Ellen Thomas, Iva Lloyd, Sofia Douzgou, Jill Clayton‐Smith, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis

    Published 2019
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  12. 12
    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

    Clinical utility of genetic testing in 201 preschool children with inherited eye disorders by Eva Lenassi, Jill Clayton‐Smith, Sofia Douzgou, Simon Ramsden, Stuart Ingram, Georgina Hall, Claire Hardcastle, Tracy Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William D. Newman, Cecilia Fenerty, Vinod Sharma, Iva Lloyd, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis

    Published 2019
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  13. 13
    Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

    Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease by Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, Simon G. Williams, Panagiotis I. Sergouniotis, James O’Sullivan, Janine A. Lamb, Rahat Perveen, Georgina Hall, William G. Newman, Paul N. Bishop, Stephen A. Roberts, Rick Leach, Rick Tearle, S. C. Bayliss, Simon Ramsden, Andrea H. Németh, Graeme Black

    Published 2016
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  14. 14
    Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

    Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate a... by Gail C. Jackson, Lauréane Mittaz‐Crettol, Jacqueline Taylor, Geert Mortier, J Spranger, Bernhard Zabel, Martine Le Merrer, Valérie Cormier‐Daire, Christine M Hall, Amaka C Offiah, Michael Wright, Ravi Savarirayan, Gen Nishimura, Simon Ramsden, Rob Elles, Luisa Bonafé, Andrea Superti‐Furga, Sheila Unger, Andreas Zankl, Michael D. Briggs

    Published 2011
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  15. 15
    Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

    Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing by Arunabha Ghosh, Hélene Schlecht, Lesley Heptinstall, John Bassett, Eleanor Cartwright, Sanjeev S. Bhaskar, Jill Urquhart, Alexander Broomfield, Andrew A. M. Morris, Elisabeth Jameson, Bernd Schwahn, John H. Walter, Sofia Douzgou, Helen Murphy, Christian J. Hendriksz, Reena Sharma, Gisela Wilcox, Ellen Crushell, Ardeshir A. Monavari, R. J. Martin, Anne Doolan, Senthil Senniappan, Simon Ramsden, Simon Jones, Siddharth Banka

    Published 2017
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  16. 16
    Recommendations for clinical interpretation of variants found in non-coding regions of the genome

    Recommendations for clinical interpretation of variants found in non-coding regions of the genome by Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, C. Ryan Campbell, Kate Downes, Sian Ellard, Celia Duff‐Farrier, David Fitzpatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell‐Luria, Simon Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer‐Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin

    Published 2022
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  17. 17
    Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

    Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement by Mohammed E. El‐Asrag, Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan J. McKeefry, Kristof Van Schil, James A. Poulter, Colin A. Johnson, Ian Carr, Bart P. Leroy, Elfride De Baere, Chris F. Inglehearn, Andrew R. Webster, Carmel Toomes, Manir Ali, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Alison J. Hardcastle, Michel Michaelides, Michael E. Cheetham, Gavin Arno, Niclas Thomas, Shomi S. Bhattacharya, Tony Moore, Andrea H. Németh, Susan M. Downes, Stefano Lise, Emma Lord

    Published 2015
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  18. 18
    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

    Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study by Jenny Lord, Dominic McMullan, Ruth Y. Eberhardt, Gabriele Rinck, Susan Hamilton, E Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna Best, Georgina K. Carey, Rhiannon Mellis, Sarah Robart, Ian Berry, Kate Chandler, Deirdre Cilliers, Lara Cresswell, Sandra L. Edwards, Carol Gardiner, Alex Henderson, Simon Holden, Tessa Homfray, Tracy Lester, Rebecca Lewis, Ruth Newbury‐Ecob, Katrina Prescott, Oliver Quarrell, Simon Ramsden, Eileen Roberts, Dagmar Tapon, Madeleine Tooley, Pradeep Vasudevan, Astrid Weber, Diana Wellesley, Paul Westwood, Helen White, Michael Parker, Denise Williams, Lucy Jenkins, Richard H. Scott, Mark D. Kilby, Lyn S. Chitty, Matthew E. Hurles, Eamonn R. Maher, Mark S. Bateman, Ian Berry, Sunayna Best, Carolyn Campbell, Jenni Campbell, Georgina K. Carey, Kate Chandler, Lyn S. Chitty, Deirdre Cilliers, Kelly Cohen, Emma Collingwood, P. Constantinou, Lara Cresswell, Catherine Delmege, Ruth Y. Eberhardt, Sandra L. Edwards, Richard J. Ellis, Jerry Evans, Thomas R. Everett, Clare F Pinto, Natalie Forrester, Emma Fowler, Carol Gardiner, Susan Hamilton, Karen Healey, Alex Henderson, Simon Holden, Tessa Homfray, Rebecca Hudson, Matthew E. Hurles, Lucy Jenkins, Rebecca Keelagher, Mark D. Kilby, Tracey Lester, Rebecca Lewis, Jenny Lord, Eamonn R. Maher, Tamás Marton, Dominic McMullan, Sarju Mehta, Rhiannon Mellis, Ruth Newbury‐Ecob, Soo‐Mi Park, Michael Parker, Katrina Prescott, Elena Prigmore, Oliver Quarrell, E Quinlan-Jones, Simon Ramsden, Gabriele Rinck, Sarah Robart, Eileen Roberts, Jayne Rowland, Richard H. Scott, James Steer, Dagmar Tapon, Emma J. Taylor

    Published 2019
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  19. 19
    Further delineation of the KAT6B molecular and phenotypic spectrum

    Further delineation of the KAT6B molecular and phenotypic spectrum by Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Bronwyn Kerr, Ruth Day, Siddharth Banka, Mohnish Suri, Siren Berland, Michael T. Gabbett, Alan Ma, Stanislas Lyonnet, Valérie Cormier‐Daire, Rüstem Yilmaz, Guntram Borck, Dagmar Wieczorek, Britt‐Marie Anderlid, Sarah Smithson, Julie Vogt, Heather Moore-Barton, Pelin Özlem Şimşek‐Kiper, Isabelle Maystadt, Anne Destrèe, Jessica Bucher, Brad Angle, Shehla Mohammed, Emma Wakeling, Sue Price, Amihood Singer, Yves Sznajer, Annick Toutain, Damien Haye, Ruth Newbury‐Ecob, Mélanie Fradin, Julie McGaughran, Beyhan Tüysüz, Mark Tein, Katelijne Bouman, Tabib Dabir, Jenneke van den Ende, Ho‐Ming Luk, Daniela T. Pilz, Jacqueline Eason, Sally Davies, William Reardon, Livia Garavelli, Orsetta Zuffardi, Koenraad Devriendt, Ruth Armstrong, Diana Johnson, Martine Doco‐Fenzy, Emilia Bijlsma, Sheila Unger, Hermine E. Veenstra‐Knol, Jürgen Kohlhase, Ivan F. M. Lo, Janine Smith, Jill Clayton‐Smith

    Published 2014
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  20. 20
    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies by Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, Christopher T. Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S. Osman, Rachayata Dharmat, Rosa Riveiro-Álvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel Ángel López-Martínez, Liliana F. Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda‐Sánchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T. Soens, Lizhu Yang, Christine Bôle‐Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E. Cheetham, Stanislas Lyonnet, Smriti A. Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R. Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J. Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F. Schorderet, Graeme Black, Georgina Hall, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Emma Lord, Andrea H. Németh, Stephanie Halford, Susan M. Downes, Jing Yu

    Published 2017
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