Associated Papers
A de novo pathogenic variant in DHX30 gene in a fetus with isolated dysgenesis of the corpus callosum.
Haratz KK et al.
Prenatal Diagnosis, 2024
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.
Ueda K et al.
Human Genome Variation, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I et al.
Genome Medicine, 2021
Systematic reanalysis of genomic data improves quality of variant interpretation.
Hiatt SM et al.
Clinical Genetics, 2018
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Lessel D et al.
American Journal of Human Genetics, 2017
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