Ngā hua rapu - John Broxholme

  • E whakaatu ana i te 1 - 18 hua o te 18
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  1. 1
    Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex

    Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex mā Claire Vandiedonck, Martin S. Taylor, Helen Lockstone, Katharine Plant, Jennifer M. Taylor, Caroline Durrant, John Broxholme, Benjamin P. Fairfax, Julian C. Knight

    I whakaputaina 2011
    Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    A practical solution for preserving single cells for RNA sequencing

    A practical solution for preserving single cells for RNA sequencing mā Moustafa Attar, Eshita Sharma, Shuqiang Li, Claire Bryer, Laura Cubitt, John Broxholme, Helen Lockstone, James Kinchen, Alison Simmons, Paolo Piazza, David Buck, Kenneth J. Livak, Rory Bowden

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH

    Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH mā Charlene J. Williams, Yun Zhang, Andrew E. Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, E. Yvonne Jones, Raul Marchegiani, Antonio J. Reginato, R.G.G. Russell, B P Wordsworth, Andrew Carr, Matthew A. Brown

    I whakaputaina 2002
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Distinct regulation of hippocampal neuroplasticity and ciliary genes by corticosteroid receptors

    Distinct regulation of hippocampal neuroplasticity and ciliary genes by corticosteroid receptors mā Karen R. Mifsud, Clare Kennedy, Silvia Salatino, Eshita Sharma, Emily M. Price, Samantha N. Haque, Andriana Gialeli, Hannah M. Goss, Polina Panchenko, John Broxholme, Simon Engledow, Helen Lockstone, Oscar Cordero Llana, Johannes M. H. M. Reul

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

    Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease mā Morag Shanks, Susan M. Downes, Richard R. Copley, Stefano Lise, John Broxholme, Karl AZ Hudspith, Alexandra Kwasniewska, Wayne I. L. Davies, Mark W. Hankins, Emily Packham, Penny Clouston, A Seller, Andrew O.M. Wilkie, Jenny C. Taylor, Jiannis Ragoussis, Andrea H. Németh

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Host Genetic Factors and Vaccine-Induced Immunity to Hepatitis B Virus Infection

    Host Genetic Factors and Vaccine-Induced Immunity to Hepatitis B Virus Infection mā Branwen J. Hennig, Katherine Fielding, John Broxholme, Mathurin Diatta, Maimuna Mendy, Catrin E. Moore, Andrew J. Pollard, Pura Rayco‐Solon, Giorgio Sirugo, Marianne A. B. van der Sande, Pauline Waight, Hilton Whittle, Syed M. A. Zaman, Adrian V. S. Hill, Andrew J. Hall

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Missense Mutation in Sterile α Motif of Novel Protein SamCystin is Associated with Polycystic Kidney Disease in (cy/+) Rat

    Missense Mutation in Sterile α Motif of Novel Protein SamCystin is Associated with Polycystic Kidney Disease in (cy/+) Rat mā Joanna H. Brown, Marie-ThéreCombining Grave Accentse Bihoreau, Sigrid Hoffmann, Bettina KraCombining Diaeresisnzlin, Iulia Tychinskaya, Nicholas ObermuCombining Diaeresisller, Dirk Podlich, Suzanne N. Boehn, Pamela J. Kaisaki, Natalia Megel, Patrick Danoy, Richard R. Copley, John Broxholme, Ralph Witzgall, Mark Lathrop, Norbert Gretz, Dominique Gauguier

    I whakaputaina 2005
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    Artigo
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  8. 8
    A Fine-Scale Chimpanzee Genetic Map from Population Sequencing

    A Fine-Scale Chimpanzee Genetic Map from Population Sequencing mā Adam Auton, Adi Fledel-Alon, Susanne P. Pfeifer, Oliver Venn, Laure Ségurel, Teresa Street, Ellen M. Leffler, Rory Bowden, Ivy Aneas, John Broxholme, Peter Humburg, Zamin Iqbal, Gerton Lunter, Julian Maller, Ryan D. Hernandez, Cord Melton, Aarti Venkat, Marcelo A. Nóbrega, Ronald E. Bontrop, Simon Myers, Peter Donnelly, Molly Przeworski, Gil McVean

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Coexpression Network Analysis in Abdominal and Gluteal Adipose Tissue Reveals Regulatory Genetic Loci for Metabolic Syndrome and Related Phenotypes

    Coexpression Network Analysis in Abdominal and Gluteal Adipose Tissue Reveals Regulatory Genetic Loci for Metabolic Syndrome and Related Phenotypes mā Josine L. Min, Geoffrey C. Nicholson, Ingileif Halgrimsdottir, Kristian Almstrup, Andreas Petri, Amy Barrett, Mary E. Travers, Nigel W. Rayner, Reedik Mägi, Fredrik Pettersson, John Broxholme, Matt J. Neville, Quin F. Wills, Jane Cheeseman, Maxine Allen, Chris Holmes, Tim D. Spector, Jan Fleckner, Mark I. McCarthy, Fredrik Karpe, Cecilia M. Lindgren, Krina T. Zondervan

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma

    Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma mā Youming Zhang, N. I. Leaves, Gavin Anderson, Chris P. Ponting, John Broxholme, Richard Holt, Pauline Edser, Sumit Bhattacharyya, Andy Dunham, Ian M. Adcock, Louise J. Pulleyn, Peter J. Barnes, John Harper, Gonçalo R. Abecasis, Lon R. Cardon, Melanie D. White, John H. Burton, Lucy Matthews, Richard Mott, Mark T. Ross, Roger Cox, Miriam F. Moffatt, William Cookson

    I whakaputaina 2003
    Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations

    Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations mā Andrea Pellagatti, Richard N. Armstrong, Violetta Steeples, Eshita Sharma, Emmanouela Repapi, Shalini Singh, Andrea Sanchi, Aleksandar Radujkovic, Patrick Horn, Hamid Dolatshad, Swagata Roy, John Broxholme, Helen Lockstone, Stephen Taylor, Aristoteles Giagounidis, Paresh Vyas, Anna Schuh, Angela Hamblin, Elli Papaemmanuil, Sally Killick, Luca Malcovati, Marco L. Hennrich, Anne‐Claude Gavin, Anthony D. Ho, Thomas Luft, Eva Hellström‐Lindberg, Mario Cazzola, Christopher W. J. Smith, Stephen Smith, Jacqueline Boultwood

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Erythrocytosis associated with a novel missense mutation in the BPGM gene

    Erythrocytosis associated with a novel missense mutation in the BPGM gene mā Nayia Petousi, Richard R. Copley, Terence R.J. Lappin, S.E. Haggan, Celeste Bento, Holger Cario, Melanie J. Percy, Peter J. Ratcliffe, Peter A. Robbins, M. F. McMullin, Peter Donnelly, John I. Bell, D. R. Bentley, Gil McVean, Peter J. Ratcliffe, Jenny C. Taylor, Andrew O.M. Wilkie, P. Donelly, John Broxholme, David Buck, Jean‐Baptiste Cazier, Richard J. Cornall, Lynn Gregory, Julian C. Knight, Gerton Lunter, Gil McVean, Ian Tomlinson, Andrew O.M. Wilkie, David Buck, Christopher Allan, Moustafa Attar, Andrew Green, Lynn Gregory, Sean Humphray, Zoya Kingsbury, Sarah Lamble, Lorne Lonie, Alistair T. Pagnamenta, Paolo Piazza, Guadelupe Polanco, Amy Trebes, Gil McVean, Peter Donnelly, Jean‐Baptiste Cazier, John Broxholme, Richard R. Copley, Simon Fiddy, Russell Grocock, Edouard Hatton, Chris Holmes, L. Hughes, Peter Humburg, Alexander Kanapin, Stefano Lise, Gerton Lunter, Hilary C. Martin, Lisa Murray, Davis J. McCarthy, Andy Rimmer, Natasha Sahgal, Bruce Wright, Christopher Yau

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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  13. 13
    Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

    Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis mā H. Christian Martin, Grace Kim, A. T. Pagnamenta, Yoshiko Murakami, Gemma L. Carvill, Esther Meyer, Richard R. Copley, Andy Rimmer, Giulia Barcia, Matthew R. Fleming, Jack Kronengold, Milton R. Brown, K Hudspith, John Broxholme, Alexander Kanapin, Jean‐Baptiste Cazier, Taroh Kinoshita, Rima Nabbout, D. R. Bentley, Gil McVean, Sinéad B. Heavin, Zenobia Zaiwalla, Tony McShane, Heather C. Mefford, D. Shears, Helen Stewart, Manju A. Kurian, Ingrid E. Scheffer, Edward Blair, Peter Donnelly, Leonard K. Kaczmarek, Jenny C. Taylor

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

    Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis mā Vikram Sharma, Aimée L Fenwick, Mia Brockop, Simon J. McGowan, Jacqueline A.C. Goos, A. Jeannette M. Hoogeboom, Angela F. Brady, Owase Jeelani, Sally Ann Lynch, John B. Mulliken, Dylan J. Murray, Julie Phipps, Elizabeth Sweeney, Susan Tomkins, Louise C. Wilson, Sophia Bennett, Richard J. Cornall, John Broxholme, Alexander Kanapin, David Johnson, Steven A. Wall, Peter J. van der Spek, Irene M. J. Mathijssen, Robert E. Maxson, Stephen R.F. Twigg, Andrew O.M. Wilkie

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden

    Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden mā Jean‐Baptiste Cazier, Srinivasa R. Rao, Chelsea McLean, Alexandra K. Walker, Ben Wright, E Jaeger, Christiana Kartsonaki, Luke Marsden, Christopher Yau, Carme Camps, Pamela J. Kaisaki, Christopher Allan, Moustafa Attar, John Bell, David L. Bentley, John Broxholme, David Buck, Jean‐Baptiste Cazier, Richard R. Copley, Richard J. Cornall, Peter Donnelly, Simon Fiddy, Angie Green, Lorna Gregory, Russell Grocock, Edouard Hatton, Chris Holmes, Linda Hughes, Peter Humburg, Sean Humphray, Alexander Kanapin, Zoya Kingsbury, Julian C. Knight, Sarah Lamble, Stefano Lise, Lorne Lonie, Gerton Lunter, Hilary C. Martin, Lisa Murray, Davis J. McCarthy, Gil McVean, Alistair T. Pagnamenta, Paolo Piazza, Guadelupe Polanco, Peter J. Ratcliffe, Andy Rimmer, Natasha Sahgal, Jenny C. Taylor, Ian Tomlinson, Amy Trebes, Andrew O.M. Wilkie, Ben Wright, Christopher Yau, Jenny C. Taylor, James W.F. Catto, Ian Tomlinson, Anne E. Kiltie, Freddie C. Hamdy

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

    Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans mā Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall, Alba Sanchis‐Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A. Odhams, John C. Ambrose, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Mark J. Caulfield, G. C. Chan, C. E. H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, J. M. Hackett, Dina Halai, J. E. Holman, Tim Hubbard, R. Jackson, D. Kasperaviciute, Melis Kayikci, L. Lahnstein, Kim Lawson, S. E. A. Leigh, I. U. S. Leong, F. J. Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Alona Sosinsky, W. Spooner, Hallam Stevens, A. Stuckey, Rukhsana Sultana, Ellen Thomas, S. R. Thompson, Carolyn Tregidgo, Arianna Tucci, Elizabeth T. Walsh, Scott Watters, M. J. Welland, Eric O. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Alba Sanchis‐Juan, Jonathan Stephens, Salih Tuna, Ernest Turro, Patrick F. Chinnery, Carl Fratter, Ernest Turro, Mark J. Caulfield, Jenny C. Taylor, Shamima Rahman, Patrick F. Chinnery

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    A blood atlas of COVID-19 defines hallmarks of disease severity and specificity

    A blood atlas of COVID-19 defines hallmarks of disease severity and specificity mā David Ahern, Zhichao Ai, Mark Ainsworth, Chris Allan, Alice Allcock, Brian Angus, M. Azim Ansari, Carolina V. Arancibia-Cárcamo, Dominik Aschenbrenner, Moustafa Attar, J. Kenneth Baillie, Eleanor Barnes, Rachael Bashford-Rogers, Archana Bashyal, Sally Beer, G. Berridge, Amy Beveridge, Sagida Bibi, Tihana Bicanic, Luke Blackwell, Paul Bowness, Andrew Brent, Andrew Brown, John Broxholme, David Buck, Katie L. Burnham, Helen M. Byrne, Susana Camara, Ivan Candido-Ferreira, Philip D. Charles, Wentao Chen, Yi‐Ling Chen, Amanda Y. Chong, Elizabeth Clutterbuck, Mark Coles, Christopher P. Conlon, Richard J. Cornall, Adam P. Cribbs, Fabiola Curion, Emma E. Davenport, Neil Davidson, Simon Davis, Calliope A. Dendrou, Julie Dequaire, Lea Dib, James Docker, Christina Dold, Tao Dong, Damien J. Downes, Hal Drakesmith, Susanna Dunachie, David A. Duncan, Chris Eijsbouts, Robert Esnouf, Alexis Espinosa, Rachel Etherington, Benjamin P. Fairfax, Rory Fairhead, Hai Fang, Shayan Fassih, Sally Felle, Maria Fernandez Mendoza, Ricardo Melo Ferreira, Román Fischer, Thomas Foord, Aden Forrow, John Frater, Anastasia Fries, Verónica Sánchez, Lucy C. Garner, Clementine Geeves, Dominique Georgiou, Leila Godfrey, Tanya Golubchik, Maria Gomez Vazquez, Angie Green, Hong Harper, Heather A. Harrington, Raphael Heilig, Svenja Hester, Jennifer Hill, Charles Hinds, Clare Hird, Ling‐Pei Ho, Renee S. Hoekzema, Benjamin Hollis, Jim R. Hughes, Paula Hutton, Matthew A. Jackson-Wood, Ashwin Jainarayanan, Anna James-Bott, Kathrin Jansen, Katie Jeffery, Elizabeth Jones, Luke Jostins, Georgina Kerr, David Kim, Paul Klenerman, Julian C. Knight, Vinod Kumar

    I whakaputaina 2022
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    Artigo
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  18. 18
    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders mā Jenny C. Taylor, Hilary C. Martin, Stefano Lise, John Broxholme, Jean‐Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A.R. Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, P Bignell, Edward Blair, Veronica J. Buckle, Katherine R. Bull, Ondřej Cais, Holger Cario, Helen Chapel, Richard R. Copley, Richard J. Cornall, Jude Craft, Karin Dahan, Emma E. Davenport, Calliope A. Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D. Gilbert, Anne Goriely, Angie Green, Ingo H. Greger, Russell Grocock, Anja V. Gruszczyk, Robert Hastings, Edouard Hatton, Douglas R. Higgs, Adrian V. S. Hill, Chris Holmes, Malcolm F. Howard, Linda Hughes, Peter Humburg, David H. Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C. Knight, Jonathan Krohn, Sarah Lamble, Craig B. Langman, Lorne Lonie, Joshua Luck, Davis J. McCarthy, Simon J. McGowan, Mary Frances McMullin, Kerry A. Miller, Lisa Murray, Andrea H. Németh, M. Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Oturai, Alistair T. Pagnamenta, Smita Y. Patel, Melanie J. Percy, Nayia Petousi, Paolo Piazza, Siân E. Piret, Guadalupe Polanco‐Echeverry, Niko Popitsch, Fiona Powrie, Christopher W. Pugh, Lynn Quek, Peter A. Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A. van Schouwenburg, Anna Schuh, Earl D. Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V. Thakker, Ian Tomlinson, Amy Trebes, Stephen R.F. Twigg, Holm H. Uhlig, Paresh Vyas, Tim J. Vyse, Steven A. Wall, Hugh Watkins, Michael P. Whyte, Lorna Witty

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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