Associated Papers
DHX16-Associated Neuromuscular Oculoauditory Syndrome: A Novel Case.
Clay S et al.
American Journal of Medical Genetics. Part A, 2025
Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies.
Kalampokini S et al.
International Journal of Molecular Sciences, 2025
Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report.
Wang L et al.
Frontiers in Genetics, 2025
Molecular basis for the activation of human spliceosome.
Zhan X et al.
Nature Communications, 2024
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.
Drackley A et al.
American Journal of Medical Genetics. Part A, 2024
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR et al.
Clinical Genetics, 2023
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I et al.
American Journal of Human Genetics, 2019
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