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Broadening of cohesinopathies: Exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotypeClinical Epigenetics, 2016, 89 (1), pp.74-81. ⟨10.1111/cge.12564⟩
Journal articles
hal-01117251v1
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Expanding the clinical spectrum of the "HDAC8-phenotype" - Implications for molecular diagnostics, counselling and risk predictionClinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩
Journal articles
istex
hal-01255865v1
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesHuman Genetics, 2017, 136 (3), pp.307-320. ⟨10.1007/s00439-017-1758-y⟩
Journal articles
hal-01478812v1
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