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Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer elementPLoS 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 phenotypeClinical Epigenetics, 2016, 89 (1), pp.74-81. ⟨10.1111/cge.12564⟩
Journal articles
hal-01117251v1
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Hidden Mutations in CdLS - Limitations of Sanger Sequencing in Molecular DiagnosticsHuman Mutation, 2015, 36 (1), pp.26-29. ⟨10.1002/humu.22685⟩
Journal articles
istex
hal-01064574v1
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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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