Hasil Pencarian - Michael A. Simpson
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Psoriasis and Genetics oleh Nick Dand, Satveer K. Mahil, Francesca Capon, Catherine H. Smith, Michael A. Simpson, Jonathan N. Barker
Diterbitkan 2020-01-01
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Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years oleh Christos Petridis, Iteeka Arora, Vandna Shah, Anargyros Megalios, Charlotte Moss, Anca Mera, Angela Clifford, Cheryl Gillett, Sarah E. Pinder, Ian Tomlinson, Rebecca Roylance, Michael A. Simpson, Elinor J. Sawyer
Diterbitkan 2019-05-01
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Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up. oleh Vanisha Mistry, Nicholas A Bockett, Adam P Levine, Muddassar M Mirza, Karen A Hunt, Paul J Ciclitira, Holger Hummerich, Susan L Neuhausen, Michael A Simpson, Vincent Plagnol, David A van Heel
Diterbitkan 2015-01-01
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An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element. oleh Alex Clop, Anna Bertoni, Sarah L Spain, Michael A Simpson, Venu Pullabhatla, Raul Tonda, Christian Hundhausen, Paola Di Meglio, Pieter De Jong, Adrian C Hayday, Frank O Nestle, Jonathan N Barker, Robert J A Bell, Francesca Capon, Richard C Trembath
Diterbitkan 2013-01-01
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Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis oleh Elisavet Fotiou, Silvia Martin-Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P. Snyder, Stanley G. Rockson, Steve Jeffery, Peter S. Mortimer, Sahar Mansour, Pia Ostergaard
Diterbitkan 2019-04-01
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Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway. oleh Margaret G Ehm, Jennifer L Aponte, Mathias N Chiano, Laura M Yerges-Armstrong, Toby Johnson, Jonathan N Barker, Suzanne F Cook, Akanksha Gupta, David A Hinds, Li Li, Matthew R Nelson, Michael A Simpson, Chao Tian, Linda C McCarthy, Deepak K Rajpal, Dawn M Waterworth
Diterbitkan 2017-01-01
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Application of information theoretic feature selection and machine learning methods for the development of genetic risk prediction models oleh Farideh Jalali-najafabadi, Michael Stadler, Nick Dand, Deepak Jadon, Mehreen Soomro, Pauline Ho, Helen Marzo-Ortega, Philip Helliwell, Eleanor Korendowych, Michael A. Simpson, Jonathan Packham, Catherine H. Smith, Jonathan N. Barker, Neil McHugh, Richard B. Warren, Anne Barton, John Bowes, BADBIR Study Group, BSTOP Study Group
Diterbitkan 2021-12-01
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Sequencing of human genomes with nanopore technology oleh Rory Bowden, Robert W. Davies, Andreas Heger, Alistair T. Pagnamenta, Mariateresa de Cesare, Laura E. Oikkonen, Duncan Parkes, Colin Freeman, Fatima Dhalla, Smita Y. Patel, Niko Popitsch, Camilla L. C. Ip, Hannah E. Roberts, Silvia Salatino, Helen Lockstone, Gerton Lunter, Jenny C. Taylor, David Buck, Michael A. Simpson, Peter Donnelly
Diterbitkan 2019-04-01
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Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death oleh C. Anwar A. Chahal, David J. Tester, Ahmed U. Fayyaz, Keerthi Jaliparthy, Nadeem A. Khan, Dongmei Lu, Mariha Khan, Aradhana Sahoo, Aiswarya Rajendran, Jennifer A. Knight, Michael A. Simpson, Elijah R. Behr, Elson L. So, Erik K. St. Louis, R. Ross Reichard, William D. Edwards, Michael J. Ackerman, Virend K. Somers
Diterbitkan 2021-12-01
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Genome-wide association meta-analysis identifies 29 new acne susceptibility loci oleh Brittany L. Mitchell, Jake R. Saklatvala, Nick Dand, Fiona A. Hagenbeek, Xin Li, Josine L. Min, Laurent Thomas, Meike Bartels, Jouke Jan Hottenga, Michelle K. Lupton, Dorret I. Boomsma, Xianjun Dong, Kristian Hveem, Mari Løset, Nicholas G. Martin, Jonathan N. Barker, Jiali Han, Catherine H. Smith, Miguel E. Rentería, Michael A. Simpson
Diterbitkan 2022-02-01
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Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne oleh Christos Petridis, Alexander A. Navarini, Nick Dand, Jake Saklatvala, David Baudry, Michael Duckworth, Michael H. Allen, Charles J. Curtis, Sang Hyuck Lee, A. David Burden, Alison Layton, Veronique Bataille, Andrew E. Pink, The Acne Genetic Study Group, Isabelle Carlavan, Johannes J. Voegel, Timothy D. Spector, Richard C. Trembath, John A. McGrath, Catherine H. Smith, Jonathan N. Barker, Michael A. Simpson
Diterbitkan 2018-12-01
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Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes. oleh Natalie J Prescott, Benjamin Lehne, Kristina Stone, James C Lee, Kirstin Taylor, Jo Knight, Efterpi Papouli, Muddassar M Mirza, Michael A Simpson, Sarah L Spain, Grace Lu, Franca Fraternali, Suzannah J Bumpstead, Emma Gray, Ariella Amar, Hannah Bye, Peter Green, Guy Chung-Faye, Bu'Hussain Hayee, Richard Pollok, Jack Satsangi, Miles Parkes, Jeffrey C Barrett, John C Mansfield, Jeremy Sanderson, Cathryn M Lewis, Michael E Weale, Thomas Schlitt, Christopher G Mathew, UK IBD Genetics Consortium
Diterbitkan 2015-02-01
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Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects oleh Ben Johnson, Gillian C. Lowe, Jane Futterer, Marie Lordkipanidzé, David MacDonald, Michael A. Simpson, Isabel Sanchez-Guiú, Sian Drake, Danai Bem, Vincenzo Leo, Sarah J. Fletcher, Ban Dawood, José Rivera, David Allsup, Tina Biss, Paula HB Bolton-Maggs, Peter Collins, Nicola Curry, Charlotte Grimley, Beki James, Mike Makris, Jayashree Motwani, Sue Pavord, Katherine Talks, Jecko Thachil, Jonathan Wilde, Mike Williams, Paul Harrison, Paul Gissen, Stuart Mundell, Andrew Mumford, Martina E. Daly, Steve P. Watson, Neil V. Morgan
Diterbitkan 2016-10-01
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Development of antidrug antibodies against adalimumab maps to variation within the HLA-DR peptide-binding groove oleh Teresa Tsakok, Jake Saklatvala, Theo Rispens, Floris C. Loeff, Annick de Vries, Michael H. Allen, Ines A. Barbosa, David Baudry, Tejus Dasandi, Michael Duckworth, Freya Meynell, Alice Russell, Anna Chapman, Sandy McBride, Kevin McKenna, Gayathri Perera, Helen Ramsay, Raakhee Ramesh, Kathleen Sands, Alexa Shipman, the Biomarkers of Systemic Treatment Outcomes in Psoriasis (BSTOP) Study Group, A. David Burden, Christopher E.M. Griffiths, Nick J. Reynolds, Richard B. Warren, Satveer Mahil, Jonathan Barker, Nick Dand, Catherine Smith, Michael A. Simpson
Diterbitkan 2023-02-01
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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia oleh Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul-Sada, Christina Y. Hung, Michael A. Simpson, W. K. Chong, Thomas S. Jacques, Randy L. Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn R. Maher, John Spencer, Ania Straatman-Iwanowska, Paul Gissen, Laila A. M. Selim, Guillem Pintos-Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline A. Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
Diterbitkan 2016-05-01
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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy oleh Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, Grant S. Stewart
Diterbitkan 2022-11-01
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Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02 oleh Christos Tziotzios, Christos Petridis, Nick Dand, Chrysanthi Ainali, Jake R. Saklatvala, Venu Pullabhatla, Alexandros Onoufriadis, Rashida Pramanik, David Baudry, Sang Hyuck Lee, Kristie Wood, Lu Liu, Seth Seegobin, Gregory A. Michelotti, Su M. Lwin, Evangelos A. A. Christou, Charles J. Curtis, Emanuele de Rinaldis, Alka Saxena, Susan Holmes, Matthew Harries, Ioulios Palamaras, Fiona Cunningham, Gregory Parkins, Manjit Kaur, Paul Farrant, Andrew McDonagh, Andrew Messenger, Jennifer Jones, Victoria Jolliffe, Iaisha Ali, Michael Ardern-Jones, Charles Mitchell, Nigel Burrows, Ravinder Atkar, Cedric Banfield, Anton Alexandroff, Caroline Champagne, Hywel L. Cooper, Sergio Vañó-Galván, Ana Maria Molina-Ruiz, Nerea Ormaechea Perez, Girish K. Patel, Abby Macbeth, Melanie Page, Alyson Bryden, Megan Mowbray, Shyamal Wahie, Keith Armstrong, Nicola Cooke, Mark Goodfield, Irene Man, David de Berker, Giles Dunnill, Anita Takwale, Archana Rao, Tee-Wei Siah, Rodney Sinclair, Martin S. Wade, Ncoza C. Dlova, Jane Setterfield, Fiona Lewis, Kapil Bhargava, Niall Kirkpatrick, Xavier Estivill, Catherine M. Stefanato, Carsten Flohr, Timothy Spector, Fiona M. Watt, Catherine H. Smith, Jonathan N. Barker, David A. Fenton, Michael A. Simpson, John A. McGrath
Diterbitkan 2019-03-01
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