Associated Papers
A novel frameshift variant in PURA syndrome: role of NMD pathway in disease mechanism.
Yang H et al.
Gene, 2026
Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.
Liu SN et al.
Orphanet Journal of Rare Diseases, 2025
PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.
Taniguchi N et al.
Journal of Medical Genetics, 2025
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.
Panigrahi I et al.
Case Reports in Genetics, 2024
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.
Manshaei R et al.
Bmc Medical Genomics, 2022
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM et al.
Neurology. Genetics, 2021
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Cinquina V et al.
Molecular Genetics & Genomic Medicine, 2021
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.
Reuter MS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Staněk D et al.
Orphanet Journal of Rare Diseases, 2018
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF et al.
Journal of Medical Genetics, 2018
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2015
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani SR et al.
American Journal of Human Genetics, 2014