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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: schramm c. 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.
Gut Pathobiont-Derived Outer Membrane Vesicles Drive Liver Inflammation and Fibrosis in Primary Sclerosing Cholangitis-Associated Inflammatory Bowel Disease.
Dorner H, Stolzer I, Mattner J, Kaminski S, Leistl S, Edrich LM, Schwendner R, Hobauer J, Sebald A, Leikam S, Gonzalez Acera M, Düll M, Lang R, Seidel G, Seitz T, Hellerbrand C, Fuhrmann G, Distler U, Tenzer S, Eichhorn P, Vieth M, Schramm C, Arnold P, Becker C, Weidinger C, Siegmund B, Atreya R, Leppkes M, Naschberger E, Sampaziotis F, Dietrich P, Rauh M, Wirtz S, Kremer AE, Neurath MF, Günther C. Dorner H, et al. Among authors: schramm c. Gastroenterology. 2024 Jul 9:S0016-5085(24)05203-X. doi: 10.1053/j.gastro.2024.06.032. Online ahead of print. Gastroenterology. 2024. PMID: 38992449
Submucosal Injection of the RNA Oligonucleotide GUT-1 in Active Ulcerative Colitis Patients: A Randomized, Double-Blind, Placebo-Controlled Phase 2a Induction Trial.
Atreya R, Kühbacher T, Waldner MJ, Hirschmann S, Drvarov O, Abu Hashem R, Maaser C, Kucharzik T, Dinter J, Mertens J, Schramm C, Holler B, Mössner J, Suzuki K, Yokoyama J, Terai S, Uter W, Yoneyama H, Asakura H, Hibi T, Neurath MF. Atreya R, et al. Among authors: schramm c. J Crohns Colitis. 2024 Mar 1;18(3):406-415. doi: 10.1093/ecco-jcc/jjad162. J Crohns Colitis. 2024. PMID: 37777210 Clinical Trial.
Li-Fraumeni-associated osteosarcomas: The French experience.
Saucier E, Bougeard G, Gomez-Mascard A, Schramm C, Abbas R, Berlanga P, Briandet C, Castex MP, Corradini N, Coze C, Guerrini-Rousseau L, Guinebretière JM, Khneisser P, Lervat C, Mansuy L, Marec-Berard P, Marie-Cardine A, Mascard E, Saumet L, Tabone MD, Winter S, Frebourg T, Gaspar N, Brugieres L. Saucier E, et al. Among authors: schramm c. Pediatr Blood Cancer. 2024 Oct 10:e31362. doi: 10.1002/pbc.31362. Online ahead of print. Pediatr Blood Cancer. 2024. PMID: 39387369
Gender-affirming hormonal therapy induces a gender-concordant fecal metagenome transition in transgender individuals.
Liwinski T, Auer MK, Schröder J, Pieknik I, Casar C, Schwinge D, Henze L, Stalla GK, Lang UE, von Klitzing A, Briken P, Hildebrandt T, Desbuleux JC, Biedermann SV, Holterhus PM, Bang C, Schramm C, Fuss J. Liwinski T, et al. Among authors: schramm c. BMC Med. 2024 Sep 2;22(1):346. doi: 10.1186/s12916-024-03548-z. BMC Med. 2024. PMID: 39218875 Free PMC article.
Integrin αVß6 - autoantigen and driver of epithelial remodeling in colon and bile ducts in primary sclerosing cholangitis and inflammatory bowel disease.
Roth D, Düll MM, Horst LJ, Lindemann A, Malzer X, Koop K, Zundler S, Vetter M, Jefremow A, Atreya R, Geppert C, Weidemann S, Waldner MJ, Dietrich P, Günther C, Munoz LE, Herrmann M, Scheffold A, Neurath MF, Siebler J, Schramm C, Kremer AE, Leppkes M. Roth D, et al. Among authors: schramm c. J Crohns Colitis. 2024 Aug 30:jjae131. doi: 10.1093/ecco-jcc/jjae131. Online ahead of print. J Crohns Colitis. 2024. PMID: 39212221
635 results