Associated Papers
RNA-based discovery and correction of splicing defects caused by POLR3A missense mutations.
Shkreta L et al.
Molecular Therapy. Nucleic Acids, 2026
Genetic Diagnosis and Discovery Enabled by Large Language Models.
Tu T et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review.
Zhou M et al.
Frontiers in Genetics, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy.
Takanashi JI
Brain & Development, 2025
Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.
Luo X et al.
Journal of Translational Medicine, 2025
Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.
Liu Z et al.
Annals of Clinical and Translational Neurology, 2025
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Sabbagh Q et al.
Journal of Neurology, 2025
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
Yahia A et al.
European Journal of Human Genetics : Ejhg, 2024
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Impact of genome build on RNA-seq interpretation and diagnostics.
Ungar RA et al.
American Journal of Human Genetics, 2024
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2024
Novel Neuroimaging Pattern in POLR3A-Related Disorder on 7T MRI.
Dulski J et al.
Neurology. Genetics, 2024
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Kovalskaia VA et al.
Genes, 2024
POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience.
Liu J et al.
Frontiers in Neurology, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A et al.
Journal of Medical Genetics, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement.
Moon B et al.
Clinical and Experimental Pediatrics, 2023
Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders.
Zea Vera A et al.
Movement Disorders Clinical Practice, 2023
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A et al.
Neurology, 2022
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
Perrier S et al.
American Journal of Medical Genetics. Part A, 2022
A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing.
Peng Q et al.
Frontiers in Molecular Neuroscience, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.
Yan H et al.
Journal of Human Genetics, 2021
Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
Majethia P et al.
American Journal of Medical Genetics. Part A, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.
Morales-Rosado JA et al.
Molecular Genetics & Genomic Medicine, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.
Perrier S et al.
Neurology. Genetics, 2020
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Harting I et al.
Neurogenetics, 2020
POLR3A variants in hereditary spastic paraplegia and ataxia.
Gauquelin L et al.
Brain : a Journal of Neurology, 2018
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.
Minnerop M et al.
Brain : a Journal of Neurology, 2018
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M et al.
Brain : a Journal of Neurology, 2017