Search Results - Sanjeev S. Bhaskar

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  1. 1
    A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing

    A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing by Gillian Ellison, Shuwen Huang, T. Hedley Carr, Andrew Wallace, Miika Ahdesmäki, Sanjeev S. Bhaskar, John Mills

    Published 2015
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  2. 2
    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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  3. 3
    Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis

    Exome Sequencing Identifies a Dominant <b><i>TNNT3</i></b> Mutation in a Large Family with Distal Arthrogryposis by Sarah B. Daly, Hitesh Shah, James O’Sullivan, Beverley Anderson, Sanjeev S. Bhaskar, Simon Williams, Nada Al-Sheqaih, Abdul Mueed Bidchol, Siddharth Banka, William G. Newman, Katta M. Girisha

    Published 2014
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  4. 4
    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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  5. 5
    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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  6. 6
    Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

    Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome by James O’Sullivan, Carolina Cavalcante Bitu, Sarah B. Daly, Jill Urquhart, Martin Barron, Sanjeev S. Bhaskar, Hercílio Martelli‐Júnior, Pedro Eleutério dos Santos Neto, M. Adela Mansilla, Jeffrey C. Murray, Ricardo D. Coletta, Graeme Black, Michael J. Dixon

    Published 2011
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  7. 7
    Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

    Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth by Dan Hanson, Philip Murray, James O’Sullivan, Jill Urquhart, Sarah B. Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire E. L. Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter Clayton, Graeme Black

    Published 2011
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  8. 8
    Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

    Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus by Karen S. Mitchell, James O’Sullivan, Caterina Missero, Ed Blair, Rose Richardson, Beverley Anderson, Dario Antonini, Jeffrey C. Murray, Alan Shanske, Brian C. Schutte, Rose-Anne Romano, Satrajit Sinha, Sanjeev S. Bhaskar, Graeme Black, Jill Dixon, Michael J. Dixon

    Published 2011
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  9. 9
    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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  10. 10
    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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  11. 11
    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis

    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis by Miriam J. Smith, B. Isidor, Christian Beetz, Simon G. Williams, Sanjeev S. Bhaskar, Wilfrid Richer, James O’Sullivan, Beverly Anderson, Sarah B. Daly, Jill Urquhart, Alan Fryer, Cecilie F. Rustad, Samantha J. Mills, Amir Samii, Daniel du Plessis, Dorothy Halliday, S. Barbarot, Franck Bourdeaut, William G. Newman, D. Gareth Evans

    Published 2014
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  12. 12
    Expanding the genotypic spectrum of Perrault syndrome

    Expanding the genotypic spectrum of Perrault syndrome by Leigh Demain, Jill Urquhart, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Emma M. Jenkinson, Charles Marques Lourenço, Arvid Heiberg, Simon H. S. Pearce, Stavit A. Shalev, Wyatt W. Yue, Sabrina MacKinnon, Kevin J. Munro, Ruth Newbury‐Ecob, Kerstin Becker, M.J. Kim, Raymond T. O. Keefe, William G. Newman

    Published 2016
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  13. 13
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome by Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate Chandler, Bronwyn Kerr, May Tassabehji, Sally Ann Lynch, Małgorzata Krajewska‐Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

    Published 2011
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  14. 14
    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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  15. 15
    LRIG2 Mutations Cause Urofacial Syndrome

    LRIG2 Mutations Cause Urofacial Syndrome by Helen M. Stuart, Neil Roberts, Berk Burgu, Sarah B. Daly, Jill Urquhart, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Murat Mermerkaya, Mesrur Selçuk Sılay, Malcolm Lewis, M. Beatriz Orive Olondriz, Blanca Gener, Christian Beetz, Rita E. Varga, Ömer Gülpınar, Cem Süer, Tarkan Soygür, Zeynep Birsin Özçakar, Fatoş Yalçınkaya, Aslı Kavaz, Burcu Bulum, Adnan Gücük, Wyatt W. Yue, Fırat Erdoğan, Andrew Berry, Neil A. Hanley, Edward A. McKenzie, Emma Hilton, Adrian S. Woolf, William G. Newman

    Published 2013
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  16. 16
    Clustered Coding Variants in the Glutamate Receptor Complexes of Individuals with Schizophrenia and Bipolar Disorder

    Clustered Coding Variants in the Glutamate Receptor Complexes of Individuals with Schizophrenia and Bipolar Disorder by René Frank, Allan F. McRae, Andrew Pocklington, Louie N. van de Lagemaat, Pau Navarro, Mike D. R. Croning, Noboru H. Komiyama, Sophie J. Bradley, R. A. John Challiss, J. Douglas Armstrong, ROBERT FINN, M. P. Malloy, Alan Maclean, Sarah E. Harris, John M. Starr, Sanjeev S. Bhaskar, Eleanor Howard, Sarah Hunt, Alison J. Coffey, Venkatesh Ranganath, Panos Deloukas, Jane Rogers, Walter Muir, Ian J. Deary, Douglas Blackwood, Peter M. Visscher, Seth G. N. Grant

    Published 2011
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  17. 17
    Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation

    Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation by Alexandre Bélot, Paul R. Kasher, Eleanor W. Trotter, Anne‐Perrine Foray, Anne‐Laure Debaud, Gillian Rice, Marcin Szynkiewicz, M. T. Zabot, Isabelle Rouvet, Sanjeev S. Bhaskar, Sarah B. Daly, Jonathan E. Dickerson, Joséphine Mayer, James O’Sullivan, Laurent Juillard, Jill Urquhart, Shameem Fawdar, Anna A. Marusiak, Natalie L. Stephenson, Bohdan Waszkowycz, Michael W. Beresford, Leslie G. Biesecker, Graeme Black, Céline René, Jean‐François Eliaou, Nicole Fabien, Bruno Ranchin, Pierre Cochat, Patrick M. Gaffney, Flore Rozenberg, Pierre Lebon, Christophe Malcus, Yanick J. Crow, John Brognard, Nathalie Bonnefoy

    Published 2013
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  18. 18
    Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

    Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot by Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Richard M. Monaghan, Elisavet Fotiou, Heather J. Cordell, Louise Sutcliffe, Ana Töpf, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Sally L. Dunwoodie, David S. Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, Koenraad Devriendt, Marc Gewillig, J. David Brook, Kerry Setchfield, Frances Bu’Lock, John O’Sullivan, Graham Stuart, Connie R. Bezzina, Barbara J.M. Mulder, Alex V. Postma, James R. Bentham, Martín Baron, Sanjeev S. Bhaskar, Graeme Black, William G. Newman, Kathryn E. Hentges, G.M. Lathrop, Mauro Santibanez‐Koref, Bernard Keavney

    Published 2019
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  19. 19
    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder by Sara Cuvertino, Helen M. Stuart, Kate Chandler, Neil Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev S. Bhaskar, Bert Callewaert, Jill Clayton‐Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, M. Cristina Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio González‐Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T., Ruth McGowan, Maryse Des Medt, James D.B. O’Sullivan, Sylvie Odent, Michael Parker, Céline Pebrel‐Richard, Florence Petit, Zornitza Stark, Sylvia Stöckler‐Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah Zahir, Adrian S. Woolf, Siddharth Banka

    Published 2017
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  20. 20
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome by Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, D. Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton‐Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Fılız Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenço, Ute Hehr, Eva-Christina Prott, Mélanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, H.-J. Lüdecke, Tim M. Strom

    Published 2014
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