Psoriasis and Genetics

por DAND, Nick, MAHIL, Satveer K., CAPON, Francesca, SMITH, Catherine H., SIMPSON, Michael A., BARKER, Jonathan N.
Publicado 2020

Network‐Informed Gene Ranking Tackles Genetic Heterogeneity in Exome‐Sequencing Studies of Monogenic Disease

por Dand, Nick, Schulz, Reiner, Weale, Michael E., Southgate, Laura, Oakey, Rebecca J., Simpson, Michael A., Schlitt, Thomas
Publicado 2015

MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours

por Garcia-Dios, Diego A, Levi, Dina, Shah, Vandna, Gillett, Cheryl, Simpson, Michael A, Hanby, Andrew, Tomlinson, Ian, Sawyer, Elinor J
Publicado 2018

Thinking positively: The genetics of high intelligence

por Shakeshaft, Nicholas G., Trzaskowski, Maciej, McMillan, Andrew, Krapohl, Eva, Simpson, Michael A., Reichenberg, Avi, Cederlöf, Martin, Larsson, Henrik, Lichtenstein, Paul, Plomin, Robert
Publicado 2015

A Three-Stage Genome-Wide Association Study of General Cognitive Ability: Hunting the Small Effects

por Davis, Oliver S. P., Butcher, Lee M., Docherty, Sophia J., Meaburn, Emma L., Curtis, Charles J. C., Simpson, Michael A., Schalkwyk, Leonard C., Plomin, Robert
Publicado 2010

Fine mapping genetic associations between the HLA region and extremely high intelligence

por Zabaneh, Delilah, Krapohl, Eva, Simpson, Michael A., Miller, Mike B., Iacono, William G., McGue, Matt, Putallaz, Martha, Lubinski, David, Plomin, Robert, Breen, Gerome
Publicado 2017

Genetic Validation of Psoriasis Phenotyping in UK Biobank Supports the Utility of Self-Reported Data and Composite Definitions for Large Genetic and Epidemiological Studies

por Saklatvala, Jake R., Hanscombe, Ken B., Mahil, Satveer K., Tsoi, Lam C., Elder, James T., Barker, Jonathan N., Simpson, Michael A., Smith, Catherine H., Dand, Nick
Publicado 2023

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

por Ganetzky, Rebecca, Finn, Erin, Bagchi, Atrish, Zollo, Ornella, Conlin, Laura, Deardorff, Matthew, Harr, Margaret, Simpson, Michael A, McGrath, John A, Zackai, Elaine, Lemmon, Mark A, Sondheimer, Neal
Publicado 2015

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

por Petridis, Christos, Arora, Iteeka, Shah, Vandna, Megalios, Anargyros, Moss, Charlotte, Mera, Anca, Clifford, Angela, Gillett, Cheryl, Pinder, Sarah E., Tomlinson, Ian, Roylance, Rebecca, Simpson, Michael A., Sawyer, Elinor J.
Publicado 2019

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

por Christodoulou, Katja, Wiskin, Anthony E, Gibson, Jane, Tapper, William, Willis, Claire, Afzal, Nadeem A, Upstill-Goddard, Rosanna, Holloway, John W, Simpson, Michael A, Beattie, R Mark, Collins, Andrew, Ennis, Sarah
Publicado 2013

PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progression

por Shah, Vandna, Nowinski, Salpie, Levi, Dina, Shinomiya, Irek, Kebaier Ep Chaabouni, Narda, Gillett, Cheryl, Grigoriadis, Anita, Graham, Trevor A., Roylance, Rebecca, Simpson, Michael A., Pinder, Sarah E., Sawyer, Elinor J.
Publicado 2017

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

por Maruthappu, Thiviyani, McGinty, Lisa A., Blaydon, Diana C., Fell, Benjamin, Määttä, Arto, Duit, Rebecca, Hawkins, Tim, Braun, Kristin M., Simpson, Michael A., O’Toole, Edel A., Kelsell, David P.
Publicado 2018

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

por Morgan, Neil V, Hartley, Jane L, Setchell, Kenneth DR, Simpson, Michael A, Brown, Rachel, Tee, Louise, Kirkham, Sian, Pasha, Shanaz, Trembath, Richard C, Maher, Eamonn R, Gissen, Paul, Kelly, Deirdre A
Publicado 2013

Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

por Mistry, Vanisha, Bockett, Nicholas A., Levine, Adam P., Mirza, Muddassar M., Hunt, Karen A., Ciclitira, Paul J., Hummerich, Holger, Neuhausen, Susan L., Simpson, Michael A., Plagnol, Vincent, van Heel, David A.
Publicado 2015

Diversity and Impact of Rare Variants in Genes Encoding the Platelet G Protein-Coupled Receptors

por Jones, Matthew L., Norman, Jane E., Morgan, Neil V., Mundell, Stuart J., Lordkipanidzé, Marie, Lowe, Gillian C., Daly, Martina E., Simpson, Michael A., Drake, Sian, Watson, Steve P., Mumford, Andrew D.
Publicado 2015

De novo mutations implicate novel genes in systemic lupus erythematosus

por Pullabhatla, Venu, Roberts, Amy L, Lewis, Myles J, Mauro, Daniele, Morris, David L, Odhams, Christopher A, Tombleson, Philip, Liljedahl, Ulrika, Vyse, Simon, Simpson, Michael A, Sauer, Sascha, de Rinaldis, Emanuele, Syvänen, Ann-Christine, Vyse, Timothy J
Publicado 2018

Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis

por Onoufriadis, Alexandros, Stone, Kristina, Katsiamides, Antreas, Amar, Ariella, Omar, Yasmin, de Lange, Katrina M, Taylor, Kirstin, Barrett, Jeffrey C, Pollok, Richard, Hayee, Bu’Hussain, Mansfield, John C, Sanderson, Jeremy D, Simpson, Michael A, Mathew, Christopher G, Prescott, Natalie J
Publicado 2018

An In-Depth Characterization of the Major Psoriasis Susceptibility Locus Identifies Candidate Susceptibility Alleles within an HLA-C Enhancer Element

por Clop, Alex, Bertoni, Anna, Spain, Sarah L., Simpson, Michael A., Pullabhatla, Venu, Tonda, Raul, Hundhausen, Christian, Di Meglio, Paola, De Jong, Pieter, Hayday, Adrian C., Nestle, Frank O., Barker, Jonathan N., Bell, Robert J. A., Capon, Francesca, Trembath, Richard C.
Publicado 2013

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

por Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyder, Michael P., Rockson, Stanley G., Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia
Publicado 2015