Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Keyphrases

• Neurodevelopmental Disorders 100%
• Monoallelic 100%
• Helicase 100%
• Charcot-Marie-Tooth Disease 100%
• DExH-box 100%
• DHX9 100%
• Missense Variants 27%
• Nuclear Localization Signal 27%
• CMT2 18%
• R-loops 18%
• Neurodevelopment 9%
• ATP Synthase 9%
• Gene Family 9%
• Novel Environment 9%
• Disease Pattern 9%
• Tremor 9%
• Exome Sequencing 9%
• Fibroblasts 9%
• Breast Cancer Susceptibility Gene 1 (BRCA1) 9%
• DNA Double-strand Breaks 9%
• Missense 9%
• Cellular Stress 9%
• Sudden Sensorineural Hearing Loss (SSNHL) 9%
• Loss Function 9%
• Gain-of-function mutation 9%
• Neuronal Homeostasis 9%
• Paralogous Genes 9%
• Nucleolar 9%
• Human Cell Lines 9%
• Genotype-phenotype Correlation 9%
• Homologous Recombination 9%
• RNA Helicase 9%
• Family-centered 9%
• Cellular Phenotype 9%
• Hypoactivity 9%
• Helicase Gene 9%
• Variant Allele 9%
• Ultra-rare 9%
• Ontological Analysis 9%
• Pathogenic Variation 9%
• Human Phenotype Ontology 9%
• Distal Symmetric Polyneuropathy 9%
• Rare Variant Analysis 9%

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• Nerve Cell Differentiation 100%
• Helicase 100%
• Nuclear Localization Sequence 75%
• R-Loop 50%
• Homeostasis 25%
• Wild Type 25%
• Mouse 25%
• Transcription 25%
• ATPase 25%
• Multigene Family 25%
• Allele 25%
• Exome Sequencing 25%
• Fibroblast 25%
• BRCA1 25%
• Paralogy 25%
• Genotype Phenotype Correlation 25%
• Homologous Recombination 25%
• RNA Helicase 25%
• Cell Stress 25%
• Double Stranded DNA Break 25%