Bibliotecas PUC-SP - Busca Integrada

Education for Life

Tekijä Michael A Simpson
Julkaisussa Curationis (1985-09-01)

Psoriasis and Genetics

Tekijä Nick Dand, Satveer K. Mahil, Francesca Capon, Catherine H. Smith, Michael A. Simpson, Jonathan N. Barker
Julkaisussa Acta Dermato-Venereologica (2020-01-01)

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

Tekijä 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
Julkaisussa Breast Cancer Research (2019-05-01)

Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

Tekijä 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
Julkaisussa PLoS ONE (2015-01-01)

Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders

Tekijä Olivia Wootton, Patrick Campbell, Sarah Richardson, Sarah J. Lindsay, Qin Qin Huang, Erwan Delage, Sana Amanat, Hilary S. Wong, Helen V. Firth, Matthew E. Hurles, Michael A. Simpson, Elizabeth J. Radford, Hilary C. Martin
Julkaisussa Genome Medicine (2025-10-01)

An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.

Tekijä 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
Julkaisussa PLoS ONE (2013-01-01)

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Tekijä 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
Julkaisussa Nature Communications (2019-04-01)

Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway.

Tekijä 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
Julkaisussa PLoS ONE (2017-01-01)

Application of information theoretic feature selection and machine learning methods for the development of genetic risk prediction models

Tekijä 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
Julkaisussa Scientific Reports (2021-12-01)

Sequencing of human genomes with nanopore technology

Tekijä 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
Julkaisussa Nature Communications (2019-04-01)

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death

Tekijä 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
Julkaisussa Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease (2021-12-01)

Genome-wide association meta-analysis identifies 29 new acne susceptibility loci

Tekijä 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
Julkaisussa Nature Communications (2022-02-01)

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

Tekijä 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
Julkaisussa Nature Communications (2018-12-01)

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Tekijä 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
Julkaisussa PLoS Genetics (2015-02-01)

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

Tekijä 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
Julkaisussa Haematologica (2016-10-01)

Development of antidrug antibodies against adalimumab maps to variation within the HLA-DR peptide-binding groove

Tekijä 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
Julkaisussa JCI Insight (2023-02-01)

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin

Tekijä Beth L. Woodward, Sudipta Lahiri, Anoop S. Chauhan, Marcos Rios Garcia, Lucy E. Goodley, Thomas L. Clarke, Mohinder Pal, Angelo Agathanggelou, Satpal S. Jhujh, Anil N. Ganesh, Fay M. Hollins, Valentina Galassi Deforie, Reza Maroofian, Stephanie Efthymiou, Andrea Meinhardt, Christopher G. Mathew, Michael A. Simpson, Heather C. Mefford, Eissa A. Faqeih, Sergio D. Rosenzweig, Stefano Volpi, Gigliola Di Matteo, Caterina Cancrini, Annarita Scardamaglia, Fiona Shackley, E. Graham Davies, Shahnaz Ibrahim, Peter D. Arkwright, Maha S. Zaki, Tatjana Stankovic, A. Malcolm R. Taylor, Antonina J. Mazur, Nataliya Di Donato, Henry Houlden, Eli Rothenberg, Grant S. Stewart
Julkaisussa Nature Communications (2025-05-01)

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Tekijä 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
Julkaisussa Nature Communications (2016-05-01)

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Tekijä 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
Julkaisussa Nature Communications (2022-11-01)

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Tekijä 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
Julkaisussa Nature Communications (2019-03-01)