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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

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

Matthew A. Deardorff , Masashige Bando , Ryuichiro Nakato , Erwan Watrin , Takehiko Itoh et al.
Nature, 2012, 489 (7415), pp.313-7. ⟨10.1038/nature11316⟩
Journal articles inserm-00728375v1

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Ilaria Parenti , María E. Teresa-Rodrigo , Jelena Pozojevic , Sara Ruiz Gil , Ingrid Bader et al.
Human Genetics, 2017, 136 (3), pp.307-320. ⟨10.1007/s00439-017-1758-y⟩
Journal articles hal-01478812v1