Associated Papers
Yield of Genetic Testing in Children with Autism Spectrum Disorder - A Single-Center Experience.
Arora K et al.
Annals of Indian Academy of Neurology, 2025
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.
Xu J et al.
Bmc Pediatrics, 2024
Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language (NEDMIAL) Due to DHX30 Mutations: First Indian Report of Two Cases.
Gunasekaran PK et al.
Annals of Indian Academy of Neurology, 2024
DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.
Park EG et al.
Annals of Clinical and Laboratory Science, 2023
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
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
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
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Lessel D et al.
American Journal of Human Genetics, 2017
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK et al.
Genome Medicine, 2017
[Molecular diagnosis of children with unexplained intellectual disability/ developmental delay by array-CGH].
He XY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
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