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Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.
Tse HF, Ho JC, Choi SW, Lee YK, Butler AW, Ng KM, Siu CW, Simpson MA, Lai WH, Chan YC, Au KW, Zhang J, Lay KW, Esteban MA, Nicholls JM, Colman A, Sham PC. Tse HF, et al. Among authors: simpson ma. Hum Mol Genet. 2013 Apr 1;22(7):1395-403. doi: 10.1093/hmg/dds556. Epub 2013 Jan 8. Hum Mol Genet. 2013. PMID: 23300193
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N, Stuart PE, Bowes J, Ellinghaus D, Nititham J, Saklatvala JR, Teder-Laving M, Thomas LF, Traks T, Uebe S, Assmann G, Baudry D, Behrens F, Billi AC, Brown MA, Burkhardt H, Capon F, Chung R, Curtis CJ, Duckworth M, Ellinghaus E, FitzGerald O, Gerdes S, Griffiths CEM, Gulliver S, Helliwell P, Ho P, Hoffmann P, Holmen OL, Huang ZM, Hveem K, Jadon D, Köhm M, Kraus C, Lamacchia C, Lee SH, Ma F, Mahil SK, McHugh N, McManus R, Modalsli EH, Nissen MJ, Nöthen M, Oji V, Oksenberg JR, Patrick MT, Perez-White BE, Ramming A, Rech J, Rosen C, Sarkar MK, Schett G, Schmidt B, Tejasvi T, Traupe H, Voorhees JJ, Wacker EM, Warren RB, Wasikowski R, Weidinger S, Wen X, Zhang Z; BSTOP study group; Estonian Biobank research team; Barton A, Chandran V, Esko T, Foerster J, Franke A, Gladman DD, Gudjonsson JE, Gulliver W, Hüffmeier U, Kingo K, Kõks S, Liao W, Løset M, Mägi R, Nair RP, Rahman P, Reis A, Smith CH, Di Meglio P, Barker JN, Tsoi LC, Simpson MA, Elder JT. Dand N, et al. Among authors: simpson ma. medRxiv [Preprint]. 2023 Oct 5:2023.10.04.23296543. doi: 10.1101/2023.10.04.23296543. medRxiv. 2023. PMID: 37873414 Free PMC article. Preprint.
The novel SALT-M score predicts 1-year post-transplant mortality in patients with severe acute-on-chronic liver failure.
Hernaez R, Karvellas CJ, Liu Y, Sacleux SC, Khemichian S, Stein LL, Shetty K, Lindenmeyer CC, Boike JR, Simonetto DA, Rahimi RS, Jalal PK, Izzy M, Kriss MS, Im GY, Lin MV, Jou JH, Fortune BE, Cholankeril G, Kuo A, Mahmud N, Kanwal F, Saliba F, Sundaram V, Artzner T, Jalan R; Multi-Organ Dysfunction and Evaluation for Liver Transplantation (MODEL) Consortium. Hernaez R, et al. J Hepatol. 2023 Sep;79(3):717-727. doi: 10.1016/j.jhep.2023.05.028. Epub 2023 Jun 12. J Hepatol. 2023. PMID: 37315809
Genetic Validation of Psoriasis Phenotyping in UK Biobank Supports the Utility of Self-Reported Data and Composite Definitions for Large Genetic and Epidemiological Studies.
Saklatvala JR, Hanscombe KB, Mahil SK, Tsoi LC, Elder JT, Barker JN, Simpson MA, Smith CH, Dand N. Saklatvala JR, et al. Among authors: simpson ma. J Invest Dermatol. 2023 Aug;143(8):1598-1601.e10. doi: 10.1016/j.jid.2023.02.010. Epub 2023 Mar 3. J Invest Dermatol. 2023. PMID: 36870556 Free PMC article. No abstract available.
Development of antidrug antibodies against adalimumab maps to variation within the HLA-DR peptide-binding groove.
Tsakok T, Saklatvala J, Rispens T, Loeff FC, de Vries A, Allen MH, Barbosa IA, Baudry D, Dasandi T, Duckworth M, Meynell F, Russell A, Chapman A, McBride S, McKenna K, Perera G, Ramsay H, Ramesh R, Sands K, Shipman A; Biomarkers of Systemic Treatment Outcomes in Psoriasis (BSTOP) Study Group; Burden AD, Griffiths CE, Reynolds NJ, Warren RB, Mahil S, Barker J, Dand N, Smith C, Simpson MA. Tsakok T, et al. Among authors: simpson ma. JCI Insight. 2023 Feb 22;8(4):e156643. doi: 10.1172/jci.insight.156643. JCI Insight. 2023. PMID: 36810251 Free PMC article.
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS. Grange LJ, et al. Among authors: simpson ma. Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8. Nat Commun. 2022. PMID: 36333305 Free PMC article.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ, Kurian MA. Reid KM, et al. Among authors: simpson ma. Mov Disord. 2022 Oct;37(10):2139-2146. doi: 10.1002/mds.29147. Epub 2022 Jul 25. Mov Disord. 2022. PMID: 35876425 Free PMC article.
396 results