Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic_Likely_Pathogenic
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
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E et al.
Epilepsia, 2023
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
IRF2BPL gene mutation: Expanding on neurologic phenotypes.
Shelkowitz E et al.
American Journal of Medical Genetics. Part A, 2019
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Tran Mau-Them F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting.
Boycott KM et al.
American Journal of Medical Genetics. Part A, 2019
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