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Page 1
Formation of new chromatin domains determines pathogenicity of genomic duplications.
Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, Spielmann M, Timmermann B, Wittler L, Kurth I, Cambiaso P, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S. Franke M, et al. Among authors: brancati f. Nature. 2016 Oct 13;538(7624):265-269. doi: 10.1038/nature19800. Epub 2016 Oct 5. Nature. 2016. PMID: 27706140
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S. Klopocki E, et al. Among authors: brancati f. Am J Hum Genet. 2011 Jan 7;88(1):70-5. doi: 10.1016/j.ajhg.2010.11.006. Epub 2010 Dec 17. Am J Hum Genet. 2011. PMID: 21167467 Free PMC article.
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.
Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S. Spielmann M, et al. Among authors: brancati f. Am J Hum Genet. 2012 Oct 5;91(4):629-35. doi: 10.1016/j.ajhg.2012.08.014. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022097 Free PMC article.
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. Lupiáñez DG, et al. Among authors: brancati f. Cell. 2015 May 21;161(5):1012-1025. doi: 10.1016/j.cell.2015.04.004. Epub 2015 May 7. Cell. 2015. PMID: 25959774 Free PMC article.
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Kegler MS, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Haußer I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: brancati f. Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-022-01013-2. Nat Genet. 2022. PMID: 35064218 Free article. No abstract available.
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
Daly AF, Dunnington LA, Rodriguez-Buritica DF, Spiegel E, Brancati F, Mantovani G, Rawal VM, Faucz FR, Hijazi H, Caberg JH, Nardone AM, Bengala M, Fortugno P, Del Sindaco G, Ragonese M, Gould H, Cannavò S, Pétrossians P, Lania A, Lupski JR, Beckers A, Stratakis CA, Levy B, Trivellin G, Franke M. Daly AF, et al. Among authors: brancati f. Genome Med. 2024 Sep 13;16(1):112. doi: 10.1186/s13073-024-01378-5. Genome Med. 2024. PMID: 39272130 Free PMC article.
542 results