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authFullName_s : Kerstin S. Wendt
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Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element

Jessica Zuin , Valentina Casali , Jelena Pozojevic , Petros Kolovos , Mirjam C. G. N. van den Hout et al.
PLoS Genetics, 2017, 13 (12), pp.e1007137. ⟨10.1371/journal.pgen.1007137⟩
Journal articles hal-01688185v1
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Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype

Ilaria Parenti , Cristina Gervasini , Jelena Pozojevic , Luitgard Graul-Neumann , Jacopo Azzollini et al.
Clinical Epigenetics, 2016, 89 (1), pp.74-81. ⟨10.1111/cge.12564⟩
Journal articles hal-01117251v1

Hidden Mutations in CdLS - Limitations of Sanger Sequencing in Molecular Diagnostics

Diana Braunholz , Carolin Obieglo , Ilaria Parenti , Jelena Pozojevic , Juliane Eckhold et al.
Human Mutation, 2015, 36 (1), pp.26-29. ⟨10.1002/humu.22685⟩
Journal articles istex hal-01064574v1

Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk prediction

Ilaria Parenti , Cristina Gervasini , Jelena Pozojevic , Kerstin S. Wendt , Erwan Watrin et al.
Clinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩
Journal articles istex hal-01255865v1