Associated Papers
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC et al.
Human Genetics, 2025
40019509 (PubMed )
Supplement: 439_2025_2733_MOESM2_ESM.xlsx › Table_S2
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N et al.
Brain : a Journal of Neurology, 2022
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.
Schepici G et al.
Brain Sciences, 2019
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations.
Michelucci R et al.
Epilepsy & Behavior : E&b, 2017
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
Dazzo E et al.
American Journal of Human Genetics, 2015
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