Associated Papers
NEDAMSS syndrome-related truncating and missense mutations are associated with aberrant liquid-liquid phase separation of IRF2BPL.
Dell'Oca M et al.
Nature Communications, 2026
Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.
Kristiansen K et al.
European Child & Adolescent Psychiatry, 2025
Clinical characterization of IRF2BPL mutation: Case series and review of the literature.
Lou X et al.
Medicine, 2025
Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.
Chen PS et al.
Annals of Clinical and Translational Neurology, 2024
Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues.
Bauersachs D et al.
Frontiers in Neuroscience, 2024
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5
IRF2BPL gene variants with dystonia: one new Chinese case report.
Yang F et al.
Bmc Neurology, 2023
36670390 (PubMed )
Supplement: 12883_2023_3077_MOESM2_ESM.pdf
IRF2BPL gene mutation: Expanding on neurologic phenotypes.
Shelkowitz E et al.
American Journal of Medical Genetics. Part A, 2019
Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity.
Wang J et al.
Current Protocols in Bioinformatics, 2019
Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?
Skorvanek M et al.
Parkinsonism & Related Disorders, 2019
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC et al.
American Journal of Human Genetics, 2018
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