Associated Papers
Dose-dependent NFI regulation of progenitor lifespan and output underlying human neocortical malformation.
Zhang Q et al.
Biorxiv : the Preprint Server for Biology, 2025
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature.
Paschell P et al.
Clinical Case Reports, 2024
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Bertini V et al.
Genes, 2022
36553517 (PubMed )
Supplement: genes-13-02249-s001.zip › genes-1961624-supplementary.pdf
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Ogura Y et al.
American Journal of Medical Genetics. Part A, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Uehara T et al.
American Journal of Medical Genetics. Part A, 2021
A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2020
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