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Brain : a Journal of Neurology|December 4, 2018
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephalyArtem Kim, Clara Savary, Christèle Dubourg, et al.Cell Reports|May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange SyndromeIlaria Parenti, Farah Diab, Sara Ruiz Gil, et al.Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.Nature Communications|May 22, 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyYulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, et al.Nature|August 14, 2012
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycleMatthew A Deardorff, Masashige Bando, Ryuichiro Nakato, et al.Pageof 6