Associated Papers
Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing.
Lecoquierre F et al.
Scientific Reports, 2024
38438430 (PubMed )
Supplement: 41598_2024_53358_MOESM2_ESM.xlsx › Supp_table_1_variants_analyzed
AMKL chimeric transcription factors are potent inducers of leukemia.
Dang J et al.
Leukemia, 2017
Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.
Bot C et al.
Journal of Cell Science, 2017
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
Mannini L et al.
Human Mutation, 2013
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D et al.
European Journal of Human Genetics : Ejhg, 2012
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