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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J. Latorre-Pellicer A, et al. Among authors: kanber d. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z. Sci Rep. 2021. PMID: 34326454 Free PMC article.
Evidence for correlations between BMI-associated SNPs and circRNAs.
Rajcsanyi LS, Diebels I, Pastoors L, Kanber D, Peters T, Volckmar AL, Zheng Y, Grosse M, Dieterich C, Hebebrand J, Kaiser FJ, Horsthemke B, Hinney A. Rajcsanyi LS, et al. Among authors: kanber d. Sci Rep. 2022 Jul 25;12(1):12643. doi: 10.1038/s41598-022-16495-7. Sci Rep. 2022. PMID: 35879369 Free PMC article.
Clinical utility gene card for: Angelman Syndrome.
Buiting K, Clayton-Smith J, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Schwinger E, Williams C, Horsthemke B. Buiting K, et al. Among authors: kanber d. Eur J Hum Genet. 2015 Feb;23(2). doi: 10.1038/ejhg.2014.93. Epub 2014 Jun 4. Eur J Hum Genet. 2015. PMID: 24896151 Free PMC article. No abstract available.
Clinical utility gene card for: Prader-Willi Syndrome.
Buiting K, Cassidy SB, Driscoll DJ, Gillessen-Kaesbach G, Kanber D, Tauber M, Schwinger E, Horsthemke B. Buiting K, et al. Among authors: kanber d. Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.66. Epub 2014 Apr 16. Eur J Hum Genet. 2014. PMID: 24736734 Free PMC article. No abstract available.
32 results