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A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastoma.
Ryl T, Afanasyeva E, Hartmann T, Schwermer M, Schneider M, Schröder C, Wagemanns M, Bister A, Kanber D, Steenpass L, Schramm K, Jones B, Jones DTW, Biewald E, Astrahantseff K, Hanenberg H, Rahmann S, Lohmann DR, Schramm A, Ketteler P. Ryl T, et al. Among authors: kanber d. Commun Biol. 2024 Jul 30;7(1):919. doi: 10.1038/s42003-024-06596-6. Commun Biol. 2024. PMID: 39079981 Free PMC article.
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.
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.
The human retinoblastoma gene is imprinted.
Kanber D, Berulava T, Ammerpohl O, Mitter D, Richter J, Siebert R, Horsthemke B, Lohmann D, Buiting K. Kanber D, et al. PLoS Genet. 2009 Dec;5(12):e1000790. doi: 10.1371/journal.pgen.1000790. Epub 2009 Dec 24. PLoS Genet. 2009. PMID: 20041224 Free PMC article.
Imprinting of RB1 (the new kid on the block).
Buiting K, Kanber D, Horsthemke B, Lohmann D. Buiting K, et al. Among authors: kanber d. Brief Funct Genomics. 2010 Jul;9(4):347-53. doi: 10.1093/bfgp/elq014. Epub 2010 Jun 15. Brief Funct Genomics. 2010. PMID: 20551090 Review.
35 results