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Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti I, Gervasini C, Pozojevic J, Graul-Neumann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaesbach G, Lazarevic D, Mariani M, Russo S, Werner R, Krawitz P, Larizza L, Selicorni A, Kaiser FJ. Parenti I, et al. Among authors: wendt ks. Clin Genet. 2016 Jan;89(1):74-81. doi: 10.1111/cge.12564. Epub 2015 Feb 25. Clin Genet. 2016. PMID: 25652421 Free article.
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ. Parenti I, et al. Among authors: wendt ks. Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25. Clin Genet. 2016. PMID: 26671848
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Hum Genet. 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y. Epub 2017 Jan 24. Hum Genet. 2017. PMID: 28120103
Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Pozojevic J, Parenti I, Graul-Neumann L, Ruiz Gil S, Watrin E, Wendt KS, Werner R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ. Pozojevic J, et al. Among authors: wendt ks. Eur J Med Genet. 2018 Nov;61(11):680-684. doi: 10.1016/j.ejmg.2017.11.004. Epub 2017 Nov 15. Eur J Med Genet. 2018. PMID: 29155047
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T, Gines MM, van Staveren T, van IJcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. Parenti I, et al. Among authors: wendt ks. Cell Rep. 2020 May 19;31(7):107647. doi: 10.1016/j.celrep.2020.107647. Cell Rep. 2020. PMID: 32433956 Free article.
A cohesin-independent role for NIPBL at promoters provides insights in CdLS.
Zuin J, Franke V, van Ijcken WF, van der Sloot A, Krantz ID, van der Reijden MI, Nakato R, Lenhard B, Wendt KS. Zuin J, et al. Among authors: wendt ks. PLoS Genet. 2014 Feb 13;10(2):e1004153. doi: 10.1371/journal.pgen.1004153. eCollection 2014 Feb. PLoS Genet. 2014. PMID: 24550742 Free PMC article.
Cohesin complex-associated holoprosencephaly.
Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M. Kruszka P, et al. Among authors: wendt ks. Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210. Brain. 2019. PMID: 31334757 Free PMC article.
32 results