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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: spier i. 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.
[Gastrointestinal polyposis syndromes].
Spier I, Aretz S. Spier I, et al. Internist (Berl). 2012 Apr;53(4):371-2, 374-6, 378-80 passim. doi: 10.1007/s00108-011-2984-3. Internist (Berl). 2012. PMID: 22430643 German.
Dye chromoendoscopy leads to a higher adenoma detection in the duodenum and stomach in patients with familial adenomatous polyposis.
Hüneburg R, Heling D, Kaczmarek DJ, van Heteren P, Olthaus M, Fimmers R, Berger M, Coch C, Lau JF, Kristiansen G, Weismüller TJ, Spier I, Aretz S, Strassburg CP, Nattermann J. Hüneburg R, et al. Among authors: spier i. Endosc Int Open. 2020 Oct;8(10):E1308-E1314. doi: 10.1055/a-1220-6699. Epub 2020 Sep 22. Endosc Int Open. 2020. PMID: 33015332 Free PMC article.
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
Spier I, Drichel D, Kerick M, Kirfel J, Horpaopan S, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Perner S, Hoffmann P, Kristiansen G, Timmermann B, Nöthen MM, Holinski-Feder E, Schweiger MR, Aretz S. Spier I, et al. J Med Genet. 2016 Mar;53(3):172-9. doi: 10.1136/jmedgenet-2015-103468. Epub 2015 Nov 27. J Med Genet. 2016. PMID: 26613750
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