Associated Papers
PURA-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.
Taniguchi N et al.
Journal of Medical Genetics, 2025
Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders.
Xiao B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
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
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
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
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