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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Hsieh TC, Bar-Haim A, Moosa S, Ehmke N, Gripp KW, Pantel JT, Danyel M, Mensah MA, Horn D, Rosnev S, Fleischer N, Bonini G, Hustinx A, Schmid A, Knaus A, Javanmardi B, Klinkhammer H, Lesmann H, Sivalingam S, Kamphans T, Meiswinkel W, Ebstein F, Krüger E, Küry S, Bézieau S, Schmidt A, Peters S, Engels H, Mangold E, Kreiß M, Cremer K, Perne C, Betz RC, Bender T, Grundmann-Hauser K, Haack TB, Wagner M, Brunet T, Bentzen HB, Averdunk L, Coetzer KC, Lyon GJ, Spielmann M, Schaaf CP, Mundlos S, Nöthen MM, Krawitz PM. Hsieh TC, et al. Among authors: perne c. Nat Genet. 2022 Mar;54(3):349-357. doi: 10.1038/s41588-021-01010-x. Epub 2022 Feb 10. Nat Genet. 2022. PMID: 35145301 Free PMC article.
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
Perne C, Peters S, Cartolano M, Horpaopan S, Grimm C, Altmüller J, Sommer AK, Hillmer AM, Thiele H, Odenthal M, Möslein G, Adam R, Sivalingam S, Kirfel J, Schweiger MR, Peifer M, Spier I, Aretz S. Perne C, et al. PLoS One. 2021 Nov 29;16(11):e0259185. doi: 10.1371/journal.pone.0259185. eCollection 2021. PLoS One. 2021. PMID: 34843512 Free PMC article.
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
Hassanin E, Spier I, Bobbili DR, Aldisi R, Klinkhammer H, David F, Dueñas N, Hüneburg R, Perne C, Brunet J, Capella G, Nöthen MM, Forstner AJ, Mayr A, Krawitz P, May P, Aretz S, Maj C. Hassanin E, et al. Among authors: perne c. BMC Med Genomics. 2023 Mar 5;16(1):42. doi: 10.1186/s12920-023-01469-z. BMC Med Genomics. 2023. PMID: 36872334 Free PMC article.
MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.
Wiik MU, Negline M, Beisvåg V, Clapham M, Holliday E, Dueñas N, Brunet J, Pineda M, Bonifaci N, Aretz S, Klinkhammer H, Spier I, Perne C, Mayr A, Valle L, Lubinski J, Sjursen W, Scott RJ, Talseth-Palmer BA. Wiik MU, et al. Among authors: perne c. Sci Rep. 2023 Nov 1;13(1):18783. doi: 10.1038/s41598-023-44120-8. Sci Rep. 2023. PMID: 37914736 Free PMC article.
[Current recommendations for surveillance, risk reduction and therapy in Lynch syndrome patients].
Hüneburg R, Aretz S, Büttner R, Daum S, Engel C, Fechner G, Habermann JK, Heling D, Hoffmann K, Holinski-Feder E, Kloor M, von Knebel-Döberitz M, Loeffler M, Möslein G, Perne C, Redler S, Rieß O, Schmiegel W, Seufferlein T, Siebers-Renelt U, Steinke-Lange V, Tecklenburg J, Vangala D, Vilz T, Weitz J, Wiedenmann B, Strassburg CP, Nattermann J. Hüneburg R, et al. Among authors: perne c. Z Gastroenterol. 2019 Nov;57(11):1309-1320. doi: 10.1055/a-1008-9827. Epub 2019 Nov 18. Z Gastroenterol. 2019. PMID: 31739377 German.
Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study.
Bucksch K, Zachariae S, Aretz S, Büttner R, Holinski-Feder E, Holzapfel S, Hüneburg R, Kloor M, von Knebel Doeberitz M, Morak M, Möslein G, Nattermann J, Perne C, Rahner N, Schmiegel W, Schulmann K, Steinke-Lange V, Strassburg CP, Vangala DB, Weitz J, Loeffler M, Engel C; German Consortium for Familial Intestinal Cancer. Bucksch K, et al. Among authors: perne c. BMC Cancer. 2020 May 24;20(1):460. doi: 10.1186/s12885-020-06926-x. BMC Cancer. 2020. PMID: 32448342 Free PMC article.
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
Bläker H, Haupt S, Morak M, Holinski-Feder E, Arnold A, Horst D, Sieber-Frank J, Seidler F, von Winterfeld M, Alwers E, Chang-Claude J, Brenner H, Roth W, Engel C, Löffler M, Möslein G, Schackert HK, Weitz J, Perne C, Aretz S, Hüneburg R, Schmiegel W, Vangala D, Rahner N, Steinke-Lange V, Heuveline V, von Knebel Doeberitz M, Ahadova A, Hoffmeister M, Kloor M; German Consortium for Familial Intestinal Cancer. Bläker H, et al. Among authors: perne c. Int J Cancer. 2020 Nov 15;147(10):2801-2810. doi: 10.1002/ijc.33273. Epub 2020 Sep 14. Int J Cancer. 2020. PMID: 32875553 Free article.
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
Ladigan-Badura S, Vangala DB, Engel C, Bucksch K, Hueneburg R, Perne C, Nattermann J, Steinke-Lange V, Rahner N, Schackert HK, Weitz J, Kloor M, Kuhlkamp J, Nguyen HP, Moeslein G, Strassburg C, Morak M, Holinski-Feder E, Buettner R, Aretz S, Loeffler M, Schmiegel W, Pox C, Schulmann K; German Consortium for Familial Intestinal Cancer. Ladigan-Badura S, et al. Among authors: perne c. Int J Cancer. 2021 Jan 1;148(1):106-114. doi: 10.1002/ijc.33294. Epub 2020 Oct 13. Int J Cancer. 2021. PMID: 32930401 Free article.
25 results