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Nutrient regulation of the islet epigenome controls adaptive insulin secretion.
Wortham M, Liu F, Harrington AR, Fleischman JY, Wallace M, Mulas F, Mallick M, Vinckier NK, Cross BR, Chiou J, Patel NA, Sui Y, McGrail C, Jun Y, Wang G, Jhala US, Schüle R, Shirihai OS, Huising MO, Gaulton KJ, Metallo CM, Sander M. Wortham M, et al. Among authors: schule r. J Clin Invest. 2023 Apr 17;133(8):e165208. doi: 10.1172/JCI165208. J Clin Invest. 2023. PMID: 36821378 Free PMC article.
Discovery of a Potent, Selective, and Cell-Active SPIN1 Inhibitor.
Xiong Y, Greschik H, Johansson C, Seifert L, Gamble V, Park KS, Fagan V, Li F, Chau I, Vedadi M, Arrowsmith CH, Brennan P, Fedorov O, Jung M, Farnie G, Liu J, Oppermann U, Schüle R, Jin J. Xiong Y, et al. Among authors: schule r. J Med Chem. 2024 Apr 11;67(7):5837-5853. doi: 10.1021/acs.jmedchem.4c00121. Epub 2024 Mar 27. J Med Chem. 2024. PMID: 38533580
A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.
Kim-McManus O, Gleeson JG, Mignon L, Smith Fine A, Yan W, Nolen N, Demarest S, Berry-Kravis E, Finkel R, Leonard S, Finlayson S, Augustine E, Lyon GJ, Schule R, Yu T. Kim-McManus O, et al. Among authors: schule r. Nat Commun. 2024 Nov 12;15(1):9802. doi: 10.1038/s41467-024-54077-5. Nat Commun. 2024. PMID: 39532857 Free PMC article. Review.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
The GENESIS database and tools: A decade of discovery in Mendelian genomics.
Danzi MC, Powell E, Rebelo AP, Dohrn MF, Beijer D, Fazal S, Xu IRL, Medina J, Chen S, Arcia de Jesus Y, Schatzman J, Hershberger RE, Saporta M, Baets J, Falk M, Herrmann DN, Scherer SS, Reilly MM, Cortese A, Marques W, Cornejo-Olivas MR, Sanmaneechai O, Kennerson ML, Jordanova A, Silva TYT, Pedroso JL, Schierbaum L, Ebrahimi-Fakhari D, Peric S, Lee YC, Synofzik M, Tekin M, Ravenscroft G, Shy M, Basak N, Schule R, Zuchner S. Danzi MC, et al. Among authors: schule r. Exp Neurol. 2024 Dec;382:114978. doi: 10.1016/j.expneurol.2024.114978. Epub 2024 Sep 30. Exp Neurol. 2024. PMID: 39357594 Review.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
336 results