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authFullName_s : Cristina Gervasini
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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
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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

Aidin Foroutan , Sadegheh Haghshenas , Pratibha Bhai , Michael A Levy , Jennifer Kerkhof et al.
International Journal of Molecular Sciences, 2022, 23 (3), pp.1815. ⟨10.3390/ijms23031815⟩
Journal articles inserm-03561254v1

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

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