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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann … See abstract for full author list ➔ Schmidt A, et al. Among authors: aziz a. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
Deep phenotyping and lifetime trajectories reveal limited effects of longevity regulators on the aging process in C57BL/6J mice.
Xie K, Fuchs H, Scifo E, Liu D, Aziz A, Aguilar-Pimentel JA, Amarie OV, Becker L, da Silva-Buttkus P, Calzada-Wack J, Cho YL, Deng Y, Edwards AC, Garrett L, Georgopoulou C, Gerlini R, Hölter SM, Klein-Rodewald T, Kramer M, Leuchtenberger S, Lountzi D, Mayer-Kuckuk P, Nover LL, Oestereicher MA, Overkott C, Pearson BL, Rathkolb B, Rozman J, Russ J, Schaaf K, Spielmann N, Sanz-Moreno A, Stoeger C, Treise I, Bano D, Busch DH, Graw J, Klingenspor M, Klopstock T, Mock BA, Salomoni P, Schmidt-Weber C, Weiergräber M, Wolf E, Wurst W, Gailus-Durner V, Breteler MMB, Hrabě de Angelis M, Ehninger D. Xie K, et al. Among authors: aziz a. Nat Commun. 2022 Nov 11;13(1):6830. doi: 10.1038/s41467-022-34515-y. Nat Commun. 2022. PMID: 36369285 Free PMC article.
Protection by natural cholera against later episodes of cholera over 10 years of follow-up in Matlab, Bangladesh: a retrospective cohort study.
Hoque M, Kim DR, Ahmmed F, Islam MT, Im J, Tadesse BT, Kang S, Khanam F, Chowdhury F, Ahmed T, Firoj MG, Aziz AB, Kanungo S, Khan AI, Khan MA, Lee J, Pak G, Marks F, Kim JH, Azman A, Holmgren J, Qadri F, Zaman K, Clemens JD. Hoque M, et al. Among authors: aziz ab. Lancet Microbe. 2025 Jan 4:100981. doi: 10.1016/j.lanmic.2024.100981. Online ahead of print. Lancet Microbe. 2025. PMID: 39765235 Free article.
2,441 results