Associated Papers
Biochemical and structural studies of NFIA and NFIC reveal a conserved mechanism for specific DNA recognition and provide insight into potential pathogenicity of disease-associated mutations.
Pan S et al.
Acta Biochimica Et Biophysica Sinica, 2025
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
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
Chan AJS et al.
Nature Communications, 2022
36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_17
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
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
Revah-Politi A et al.
American Journal of Medical Genetics. Part A, 2017
Truncating mutation in NFIA causes brain malformation and urinary tract defects.
Negishi Y et al.
Human Genome Variation, 2015
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