Associated Papers
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.
Cuillerier A et al.
Clinical Genetics, 2026
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
Distinct pathogenic mutations in ARF1 allow dissection of its dual role in cGAS-STING signalling.
Lang J et al.
Embo Reports, 2025
Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.
Ishiguro T et al.
Journal of Biochemistry, 2024
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-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM et al.
Journal of Medical Genetics, 2023
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Hartley T et al.
Clinical Genetics, 2023
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