Associated Papers
A novel frameshift variant in PURA syndrome: role of NMD pathway in disease mechanism.
Yang H et al.
Gene, 2026
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Kundishora AJ et al.
Nature Medicine, 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
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM et al.
Neurology. Genetics, 2021
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report.
Candelo E et al.
Iranian Journal of Medical Sciences, 2019
Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.
Qiao Y et al.
European Journal of Medical Genetics, 2019
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
29097605 (PubMed )
Supplement: jmedgenet-2017-104946supp001.pdf
Structural basis of nucleic-acid recognition and double-strand unwinding by the essential neuronal protein Pur-alpha.
Weber J et al.
Elife, 2016
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2015
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