Search Results - James W. Whitworth
- Showing 1 - 7 results of 7
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<scp>SDHA</scp> related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity by Ruth Casey, David B. Ascher, Eleanor Rattenberry, Louise Izatt, Katrina Andrews, Helen Simpson, Benjamen G Challis, Soo‐Mi Park, V.R. Bulusu, Fiona Lalloo, Douglas E. V. Pires, Hannah D. West, Graeme R. Clark, Philip Smith, James W. Whitworth, Thomas Papathomas, Phillipe Taniere, Rosina Savisaar, Laurence D. Hurst, Emma R. Woodward, Eamonn R. Maher
Published 2017Artigo -
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Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma a... by Mariam Jafri, James W. Whitworth, Eleanor Rattenberry, Lindsey Vialard, Gail Kilby, Ajith Kumar, Louise Izatt, Fiona Lalloo, Paul Brennan, Jackie Cook, Patrick J. Morrison, Natalie Canham, Ruth Armstrong, Carole Brewer, Susan Tomkins, Alan Donaldson, Julian Barwell, Trevor Cole, A. Brew Atkinson, Simon Aylwin, Steve Ball, Umasuthan Srirangalingam, Shern L. Chew, D. Gareth Evans, Shirley V. Hodgson, Richard Irving, Emma R. Woodward, Fiona MacDonald, Eamonn R. Maher
Published 2012Artigo -
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families by Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles
Published 2015Artigo -
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Whole-genome sequencing of patients with rare diseases in a national health system by Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter H. Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James W. Whitworth, Sean Humphray, David Bentley, Nathalie Kingston, Neil Walker, John R. Bradley, Sofie Ashford, Christopher J. Penkett, Kathleen Freson, Kathleen Stirrups, F. Lucy Raymond, Willem H. Ouwehand
Published 2021Artigo
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