Associated Papers
A De Novo Loss-of-Function NCKAP1 Variant in a Boy with Neurodevelopmental Delay and Congenital Heart Defect.
Zhang W et al.
Children (basel, Switzerland), 2025
Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.
Kim SW et al.
Genome Medicine, 2025
The WAVE complex in developmental and adulthood brain disorders.
Kim HG et al.
Experimental & Molecular Medicine, 2025
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
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