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Assessment of Minimal Residual Disease in Standard-Risk AML
Ivey, Adam, Hills, Robert K, Simpson, Michael A, Jovanovic, Jelena V, Gilkes, Amanda, Grech, Angela, Patel, Yashma, Bhudia, Neesa, Farah, Hassan, Mason, Joanne, Wall, Kerry, Akiki, Susanna, Griffiths, Michael, Solomon, Ellen, McCaughan, Frank, Linch, David C, Gale, Rosemary E, Vyas, Paresh, Freeman, Sylvie D, Russell, Nigel, Burnett, Alan K, Grimwade, David
Published in The New England journal of medicine (04.02.2016)
Published in The New England journal of medicine (04.02.2016)
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Journal Article
Sequencing of human genomes with nanopore technology
Bowden, Rory, Davies, Robert W., Heger, Andreas, Pagnamenta, Alistair T., de Cesare, Mariateresa, Oikkonen, Laura E., Parkes, Duncan, Freeman, Colin, Dhalla, Fatima, Patel, Smita Y., Popitsch, Niko, Ip, Camilla L. C., Roberts, Hannah E., Salatino, Silvia, Lockstone, Helen, Lunter, Gerton, Taylor, Jenny C., Buck, David, Simpson, Michael A., Donnelly, Peter
Published in Nature communications (23.04.2019)
Published in Nature communications (23.04.2019)
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Journal Article
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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Journal Article
Psoriasis and Genetics
Dand, N, Mahil, S, Capon, F, Smith, C, Simpson, M, Barker, J
Published in Acta dermato-venereologica (01.01.2020)
Published in Acta dermato-venereologica (01.01.2020)
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Journal Article
Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis
Onoufriadis, Alexandros, Simpson, Michael A., Pink, Andrew E., Di Meglio, Paola, Smith, Catherine H., Pullabhatla, Venu, Knight, Jo, Spain, Sarah L., Nestle, Frank O., Burden, A. David, Capon, Francesca, Trembath, Richard C., Barker, Jonathan N.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Journal Article
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E., Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y., Simpson, Michael A., Chong, W. K., Jacques, Thomas S., Woltjer, Randy L., Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M., Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R., Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A. M., Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S., Yoganathan, Sangeetha, Dale, Russell C., Thomas, Maya, Rihel, Jason, Bodamer, Olaf A., Enns, Caroline A., Hayflick, Susan J., Clayton, Peter T., Mills, Philippa B., Kurian, Manju A., Wilson, Stephen W.
Published in Nature communications (27.05.2016)
Published in Nature communications (27.05.2016)
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Journal Article
Mutations in TJP2 cause progressive cholestatic liver disease
Sambrotta, Melissa, Strautnieks, Sandra, Papouli, Efterpi, Rushton, Peter, Clark, Barnaby E, Parry, David A, Logan, Clare V, Newbury, Lucy J, Kamath, Binita M, Ling, Simon, Grammatikopoulos, Tassos, Wagner, Bart E, Magee, John C, Sokol, Ronald J, Mieli-Vergani, Giorgina, Smith, Joshua D, Johnson, Colin A, McClean, Patricia, Simpson, Michael A, Knisely, A S, Bull, Laura N, Thompson, Richard J
Published in Nature genetics (01.04.2014)
Published in Nature genetics (01.04.2014)
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Journal Article
Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease
Sharifi, Reza, Morra, Rosa, Denise Appel, C, Tallis, Michael, Chioza, Barry, Jankevicius, Gytis, Simpson, Michael A, Matic, Ivan, Ozkan, Ege, Golia, Barbara, Schellenberg, Matthew J, Weston, Ria, Williams, Jason G, Rossi, Marianna N, Galehdari, Hamid, Krahn, Juno, Wan, Alexander, Trembath, Richard C, Crosby, Andrew H, Ahel, Dragana, Hay, Ron, Ladurner, Andreas G, Timinszky, Gyula, Williams, R Scott, Ahel, Ivan
Published in The EMBO journal (02.05.2013)
Published in The EMBO journal (02.05.2013)
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Journal Article
Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome
Ebarasi, Lwaki, Ashraf, Shazia, Bierzynska, Agnieszka, Gee, Heon Yung, McCarthy, Hugh J., Lovric, Svjetlana, Sadowski, Carolin E., Pabst, Werner, Vega-Warner, Virginia, Fang, Humphrey, Koziell, Ania, Simpson, Michael A., Dursun, Ismail, Serdaroglu, Erkin, Levy, Shawn, Saleem, Moin A., Hildebrandt, Friedhelm, Majumdar, Arindam
Published in American journal of human genetics (08.01.2015)
Published in American journal of human genetics (08.01.2015)
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Journal Article
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
Samuelov, Liat, Sarig, Ofer, Harmon, Robert M, Rapaport, Debora, Ishida-Yamamoto, Akemi, Isakov, Ofer, Koetsier, Jennifer L, Gat, Andrea, Goldberg, Ilan, Bergman, Reuven, Spiegel, Ronen, Eytan, Ori, Geller, Shamir, Peleg, Sarit, Shomron, Noam, Goh, Christabelle S M, Wilson, Neil J, Smith, Frances J D, Pohler, Elizabeth, Simpson, Michael A, McLean, W H Irwin, Irvine, Alan D, Horowitz, Mia, McGrath, John A, Green, Kathleen J, Sprecher, Eli
Published in Nature genetics (01.10.2013)
Published in Nature genetics (01.10.2013)
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Journal Article
Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
Mitchell, Brittany L., Saklatvala, Jake R., Dand, Nick, Hagenbeek, Fiona A., Li, Xin, Min, Josine L., Thomas, Laurent, Bartels, Meike, Jan Hottenga, Jouke, Lupton, Michelle K., Boomsma, Dorret I., Dong, Xianjun, Hveem, Kristian, Løset, Mari, Martin, Nicholas G., Barker, Jonathan N., Han, Jiali, Smith, Catherine H., Rentería, Miguel E., Simpson, Michael A.
Published in Nature communications (07.02.2022)
Published in Nature communications (07.02.2022)
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Journal Article
AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking
Setta-Kaffetzi, Niovi, Simpson, Michael A., Navarini, Alexander A., Patel, Varsha M., Lu, Hui-Chun, Allen, Michael H., Duckworth, Michael, Bachelez, Hervé, Burden, A. David, Choon, Siew-Eng, Griffiths, Christopher E.M., Kirby, Brian, Kolios, Antonios, Seyger, Marieke M.B., Prins, Christa, Smahi, Asma, Trembath, Richard C., Fraternali, Franca, Smith, Catherine H., Barker, Jonathan N., Capon, Francesca
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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Journal Article
Predicting the functional consequences of non-synonymous DNA sequence variants — evaluation of bioinformatics tools and development of a consensus strategy
Frousios, Kimon, Iliopoulos, Costas S., Schlitt, Thomas, Simpson, Michael A.
Published in Genomics (San Diego, Calif.) (01.10.2013)
Published in Genomics (San Diego, Calif.) (01.10.2013)
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Journal Article
Cardiac Genetic Predisposition in Sudden Infant Death Syndrome
Tester, David J., Wong, Leonie C.H., Chanana, Pritha, Jaye, Amie, Evans, Jared M., FitzPatrick, David R., Evans, Margaret J., Fleming, Peter, Jeffrey, Iona, Cohen, Marta C., Tfelt-Hansen, Jacob, Simpson, Michael A., Behr, Elijah R., Ackerman, Michael J.
Published in Journal of the American College of Cardiology (20.03.2018)
Published in Journal of the American College of Cardiology (20.03.2018)
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Journal Article
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects
Johnson, B., Lowe, G. C., Futterer, J., Lordkipanidze, M., MacDonald, D., Simpson, M. A., Sanchez-Guiu, I., Drake, S., Bem, D., Leo, V., Fletcher, S. J., Dawood, B., Rivera, J., Allsup, D., Biss, T., Bolton-Maggs, P. H., Collins, P., Curry, N., Grimley, C., James, B., Makris, M., Motwani, J., Pavord, S., Talks, K., Thachil, J., Wilde, J., Williams, M., Harrison, P., Gissen, P., Mundell, S., Mumford, A., Daly, M. E., Watson, S. P., Morgan, N. V.
Published in Haematologica (Roma) (01.10.2016)
Published in Haematologica (Roma) (01.10.2016)
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Journal Article
MAGI2 Mutations Cause Congenital Nephrotic Syndrome
Bierzynska, Agnieszka, Soderquest, Katrina, Dean, Philip, Colby, Elizabeth, Rollason, Ruth, Jones, Caroline, Inward, Carol D., McCarthy, Hugh J., Simpson, Michael A., Lord, Graham M., Williams, Maggie, Welsh, Gavin I., Koziell, Ania B., Saleem, Moin A.
Published in Journal of the American Society of Nephrology (01.05.2017)
Published in Journal of the American Society of Nephrology (01.05.2017)
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Journal Article
Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
Petrof, Gabriela, Nanda, Arti, Howden, Jake, Takeichi, Takuya, McMillan, James R., Aristodemou, Sophia, Ozoemena, Linda, Liu, Lu, South, Andrew P., Pourreyron, Celine, Dafou, Dimitra, Proudfoot, Laura E., Al-Ajmi, Hejab, Akiyama, Masashi, McLean, W.H. Irwin, Simpson, Michael A., Parsons, Maddy, McGrath, John A.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article
EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
Martin-Almedina, Silvia, Martinez-Corral, Ines, Holdhus, Rita, Vicente, Andres, Fotiou, Elisavet, Lin, Shin, Petersen, Kjell, Simpson, Michael A., Hoischen, Alexander, Gilissen, Christian, Jeffery, Heather, Atton, Giles, Karapouliou, Christina, Brice, Glen, Gordon, Kristiana, Wiseman, John W., Wedin, Marianne, Rockson, Stanley G., Jeffery, Steve, Mortimer, Peter S., Snyder, Michael P., Berland, Siren, Mansour, Sahar, Makinen, Taija, Ostergaard, Pia
Published in The Journal of clinical investigation (01.08.2016)
Published in The Journal of clinical investigation (01.08.2016)
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Journal Article
Rare Pathogenic Variants in IL36RN Underlie a Spectrum of Psoriasis-Associated Pustular Phenotypes
Setta-Kaffetzi, Niovi, Navarini, Alexander A., Patel, Varsha M., Pullabhatla, Venu, Pink, Andrew E., Choon, Siew-Eng, Allen, Michael A., Burden, A David, Griffiths, Christopher E.M., Seyger, Marieke M.B., Kirby, Brian, Trembath, Richard C., Simpson, Michael A., Smith, Catherine H., Capon, Francesca, Barker, Jonathan N.
Published in Journal of investigative dermatology (01.05.2013)
Published in Journal of investigative dermatology (01.05.2013)
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Journal Article