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
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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