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Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings.
Ceyhan-Birsoy O, Fiala E, Rana S, Sheehan M, Kennedy J, Yelskaya Z, Rai V, Li Y, Yang C, Wong D, Rijo I, Casanova J, Somar J, Mehta N, Park H, Ostafi S, Arora K, Padunan A, Ewalt MD, Aypar U, Terraf P, Misyura M, Haque S, Behr GG, Haque T, Sulis M, Geyer MB, Forlenza C, Thompson MC, Carlo M, Latham A, Liu Y, Zehir A, Brannon R, Berger M, Diaz LA Jr, Dogan A, Ladanyi M, Petrova-Drus K, Nafa K, Offit K, Arcila M, Stadler ZK, Walsh MF, Mandelker D. Ceyhan-Birsoy O, et al. Among authors: geyer mb. Haematologica. 2024 Apr 4. doi: 10.3324/haematol.2024.285055. Online ahead of print. Haematologica. 2024. PMID: 38572560 Free article.
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
Cosson C, Riou R, Patoli D, Niu T, Rey A, Groslambert M, De Rosny C, Chatre E, Allatif O, Henry T, Venet F, Milhavet F, Boursier G, Belot A, Jamilloux Y, Merlin E, Duquesne A, Grateau G, Savey L, Jacques Maria AT, Pagnier A, Poutrel S, Lambotte O, Mallebranche C, Ardois S, Richer O, Lemelle I, Rieux-Laucat F, Bader-Meunier B, Amoura Z, Melki I, Cuisset L, Touitou I, Geyer M, Georgin-Lavialle S, Py BF. Cosson C, et al. Among authors: geyer m. J Exp Med. 2024 May 6;221(5):e20231200. doi: 10.1084/jem.20231200. Epub 2024 Mar 26. J Exp Med. 2024. PMID: 38530241 Free PMC article.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: geyer m. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
The discovery of novel and potent indazole NLRP3 inhibitors enabled by DNA-encoded library screening.
Hartman G, Humphries P, Hughes R, Ho A, Montgomery R, Deshpande A, Mahanta M, Tronnes S, Cowdin S, He X, Liu F, Zhang L, Liu C, Dou D, Li J, Spasic A, Coll R, Marleaux M, Hochheiser IV, Geyer M, Rubin P, Fortney K, Wilhelmsen K. Hartman G, et al. Among authors: geyer m. Bioorg Med Chem Lett. 2024 Apr 1;102:129675. doi: 10.1016/j.bmcl.2024.129675. Epub 2024 Feb 28. Bioorg Med Chem Lett. 2024. PMID: 38417632
Structural basis of Cdk7 activation by dual T-loop phosphorylation.
Düster R, Anand K, Binder SC, Schmitz M, Gatterdam K, Fisher RP, Geyer M. Düster R, et al. Among authors: geyer m. bioRxiv [Preprint]. 2024 Feb 14:2024.02.14.580246. doi: 10.1101/2024.02.14.580246. bioRxiv. 2024. PMID: 38405971 Free PMC article. Preprint.
A pulsar in a binary with a compact object in the mass gap between neutron stars and black holes.
Barr ED, Dutta A, Freire PCC, Cadelano M, Gautam T, Kramer M, Pallanca C, Ransom SM, Ridolfi A, Stappers BW, Tauris TM, Venkatraman Krishnan V, Wex N, Bailes M, Behrend J, Buchner S, Burgay M, Chen W, Champion DJ, Chen CR, Corongiu A, Geyer M, Men YP, Padmanabh PV, Possenti A. Barr ED, et al. Among authors: geyer m. Science. 2024 Jan 19;383(6680):275-279. doi: 10.1126/science.adg3005. Epub 2024 Jan 18. Science. 2024. PMID: 38236981
1,083 results