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Supernumerary der(1) marker chromosome derived from a ring chromosome 1 which has retained the original centromere and euchromatin from 1q21.1 --> q21.3 with substantial loss of 1q12 heterochromatin in a female with dysmorphic features and psychomotoric developmental delay.
Barbi G, Spaich Ch, Adolph S, Rossier E, Kehrer-Sawatzki H. Barbi G, et al. Among authors: rossier e. Am J Med Genet A. 2005 Feb 1;132A(4):419-24. doi: 10.1002/ajmg.a.30491. Am J Med Genet A. 2005. PMID: 15633178 Review.
Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations.
Barbi G, Rossier E, Vossbeck S, Hummler H, Lang D, Flock F, Terinde R, Wirth J, Vogel W, Kehrer-Sawatzki H. Barbi G, et al. Among authors: rossier e. J Med Genet. 2002 Feb;39(2):E6. doi: 10.1136/jmg.39.2.e6. J Med Genet. 2002. PMID: 11836375 Free PMC article. No abstract available.
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
Zhang L, Tümer Z, Møllgård K, Barbi G, Rossier E, Bendsen E, Møller RS, Ullmann R, He J, Papadopoulos N, Tommerup N, Larsen LA. Zhang L, et al. Among authors: rossier e. Eur J Hum Genet. 2009 Aug;17(8):1010-8. doi: 10.1038/ejhg.2008.269. Epub 2009 Jan 28. Eur J Hum Genet. 2009. PMID: 19172993 Free PMC article.
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: rossier e. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M. Schulz AL, et al. Among authors: rossier e. Clin Genet. 2008 Jan;73(1):62-70. doi: 10.1111/j.1399-0004.2007.00931.x. Epub 2007 Nov 27. Clin Genet. 2008. PMID: 18042262
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