Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Christopher Boustred"'
Autor:
Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease resulting in reduced mucus clearance and impaired lung function. Here, the authors show that mutations in PIH1D3 are responsible for an X-linked form of PCD, affecting assembly o
Externí odkaz:
https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5e
Autor:
Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred
Publikováno v:
Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790
BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e7a9cb72d07e6534b79e777083f769
https://doi.org/10.1056/nejmoa2035790
https://doi.org/10.1056/nejmoa2035790
Autor:
Elena Savva, Ivan Macciocca, Tiong Yang Tan, Victor S Lin, Ivone U.S. Leong, Mark J. Caulfield, Richard H. Scott, Ana Lisa Taylor Tavares, Crystle Lee, Kevin Savage, Kathryn N. North, Olivia Niblock, Christopher Boustred, Sarah Leigh, Arina Puzriakova, Ellen M. McDonagh, Alison Yeung, William Bellamy, Catherine E. Snow, Ellen R.A. Thomas, Antonio Rueda-Martin, Paul De Fazio, Bryony A. Thompson, Louise C. Daugherty, Helen K. Brittain, Eleanor Williams, Chirag Patel, Oliver Hofmann, Ain Roesley, Zornitza Stark, Jane Deller, Zandra C. Deans, Susan M. White, Rebecca E. Foulger, Lilian Downie, Sue Hill, Augusto Rendon, Sebastian Lunke, Meriel McEntagart, Oleg Gerasimenko, Lavinia Gordon, Roman Valls
Publikováno v:
Am J Hum Genet
Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these assessments for virtual gene panel design and maintenance. Ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a7bb1d7c13503703eaacf84893bd36
https://doi.org/10.1016/j.ajhg.2021.06.020
https://doi.org/10.1016/j.ajhg.2021.06.020
Autor:
Kim Brügger, Christophe Roos, Zandra C. Deans, Farrah Khawaja, Simon Patton, Christopher Boustred, Jukka Matilainen, Maria Weronika Gutowska-Ding, Jo Wook Ahn
Publikováno v:
European Journal of Human Genetics
Next-generation sequencing (NGS) is replacing other molecular techniques to become the de facto gene diagnostics approach, transforming the speed of diagnosis for patients and expanding opportunities for precision medicine. Consequently, for accredit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5218e9cc7a1ee4e5c78b7eb675914074
https://hdl.handle.net/11250/2760987
https://hdl.handle.net/11250/2760987
Autor:
Christopher Boustred, Melissa Hill, Vincent Plagnol, Lyn S. Chitty, Fiona McKay, Kitty Lo, Evangelia Karampetsou, Sarah Mason
Publikováno v:
The American Journal of Human Genetics. 98(1):34-44
The use of massively parallel sequencing of maternal cfDNA for non-invasive prenatal testing (NIPT) of aneuploidy is widely available. Recently, the scope of testing has increased to include selected subchromosomal abnormalities, but the number of sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da91ed0f7c2b8f8db86a8f6a0a9cf213
Autor:
Amelia Shoemark, Woolf T. Walker, Bruna Rubbo, Hannah M. Mitchison, Eddie M.K. Chung, Stephen M. King, William Lamb, Andrew V. Rogers, Ramila S. Patel-King, Eduardo Moya, Thomas Cullup, Eamonn Sheridan, Beryl Adler, Andrew Bush, Mellisa Dixon, Juliet Scully, Lucy Jenkins, Christopher Boustred, Sarah Ollosson, Christopher O'Callaghan, Michael R. Loebinger, Evelyn A Robson, Jane S. Lucas, Robert A. Hirst, Claire L. Jackson, Miriam Schmidts, Jane Hayward, Hywel Williams, Mitali P. Patel, Andrew Rutman, Mahmoud R. Fassad, Christopher M. Watson, Claire Hogg, Robert Wilson, Siobhán B. Carr, Priti Kenia, Patricia Goggin
Publikováno v:
Thorax, 73, 157-166
Thorax, 73, 2, pp. 157-166
Thorax, 73, 2, pp. 157-166
RationalePrimary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of pri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23b3158e90fd024448b029fb6a64850f
http://hdl.handle.net/2066/183874
http://hdl.handle.net/2066/183874
Autor:
Richard H Scott, Suzanne Drury, Lyn S. Chitty, Natalie Trump, Nicholas Lench, Christopher Boustred, Hywel Williams
Publikováno v:
Prenatal Diagnosis. 35:1010-1017
Objective In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other sonographic abnormalities have a greater incidence of genetic syndromes, but defining the unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ad5ef925e51bdce28c94716e4bdd032
https://doi.org/10.1002/pd.4675
https://doi.org/10.1002/pd.4675
Autor:
Hannah M. Mitchison, Juliet Scully, Andrew Rutman, Evelyn A Robson, Woolf T. Walker, Andrew Bush, Patricia Goggin, Jane S. Lucas, Eduardo Moya, Stephen M. King, Lucy Jenkins, Beryl Adler, Amelia Shoemark, Christopher M. Watson, Claire L. Jackson, Miriam Schmidts, Robert A. Hirst, Eamonn Sheridan, Sarah Ollosson, Mahmoud R. Fassad, Priti Kenia, Jane Hayward, Claire Hogg, Robert Wilson, Mellisa Dixon, Hywel Williams, Andrew V. Rogers, Mitali P. Patel, Ramila S. Patel-King, Thomas Cullup, Siobhán B. Carr, Michael R. Loebinger, Christopher Boustred, Christopher O'Callaghan, Eddie M.K. Chung
Publikováno v:
Paediatric Respiratory Epidemiology.
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous condition characterised by progressive lung disease arising from abnormal motile ciliary function. Approximately half of patients have situs inversus. The estimated prevalence of PCD in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae9c9796ec3fc74162935a2e557b003e
https://doi.org/10.1183/1393003.congress-2017.pa1851
https://doi.org/10.1183/1393003.congress-2017.pa1851
Autor:
Mehmet Tekman, Richard H Scott, Horia Stanescu, Robert Kleta, Suzanne Drury, Nicholas Lench, Christopher Boustred, Lyn S. Chitty
Publikováno v:
American Journal of Medical Genetics Part A. 164:1777-1783
We report on a family with five fetuses conceived to first cousin parents presenting with abnormal ultrasound findings including contractures and microcephaly. Cerebellar hypoplasia and ventriculomegaly were also present in two and fetal edema develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b555fd28b1f52f64d441dbec483c8543
https://doi.org/10.1002/ajmg.a.36506
https://doi.org/10.1002/ajmg.a.36506
Autor:
Marta, Futema, Jackie A, Cooper, Marietta, Charakida, Christopher, Boustred, Naveed, Sattar, John, Deanfield, Debbie A, Lawlor, Nicholas J, Timpson, Steve E, Humphries, Aroon D, Hingorani
Publikováno v:
Atherosclerosis
Background and aims Familial hypercholesterolaemia (FH) is an autosomal-dominant disease with frequency of 1/500 to 1/250 that leads to premature coronary heart disease. New approaches to identify FH mutation-carriers early are needed to prevent prem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2e15d181079cd7ac5f9c73aa372b320e
https://pubmed.ncbi.nlm.nih.gov/28349888
https://pubmed.ncbi.nlm.nih.gov/28349888