Associated Papers
Concurrent inheritance of achromatopsia and MMAT syndrome in a pedigree: Genetic and clinical insights.
Aghasipour M et al.
European Journal of Medical Genetics, 2025
Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.
August AH et al.
American Journal of Ophthalmology Case Reports, 2025
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
37599823 (PubMed )
Supplement: mmc2.zip › Supplemental_tables › Supplemental_table_3.xlsx › Table_S3
Cerebellum and neurodevelopmental disorders: RORα is a unifying force.
Ribeiro S et al.
Frontiers in Cellular Neuroscience, 2023
37066074 (PubMed )
Supplement: Table_1.XLSX › SFARI_AutDB__2023
Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.
Rim JH et al.
Biomolecules, 2020
Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.
Schafer ST et al.
Nature Neuroscience, 2019
30617258 (PubMed )
Supplement: NIHMS1512664-supplement-Sup_Table_5.xlsx › whole_genelist_SAFARI
Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.
Lin CY et al.
Scientific Reports, 2018
29523860 (PubMed )
Supplement: 41598_2018_22753_MOESM11_ESM.xlsx › Table_S10
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
Peluso I et al.
Orphanet Journal of Rare Diseases, 2013
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