Associated Papers
Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress.
Schulert GS
Pediatric Rheumatology Online Journal, 2025
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs
ARF1-Related Diseases in China: The Initial Study of Phenotype and Molecular Profile.
Lian R et al.
Journal of Cellular and Molecular Medicine, 2025
Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.
Ishiguro T et al.
Journal of Biochemistry, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J et al.
Biorxiv : the Preprint Server for Biology, 2023
38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants
ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling.
Hirschenberger M et al.
Nature Communications, 2023
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM et al.
Journal of Medical Genetics, 2023
A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.
Ishida M et al.
Human Molecular Genetics, 2023
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
Ge X et al.
Npj Genomic Medicine, 2016
Select a paper to view details