Associated Papers
Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.
Levine JM et al.
American Journal of Human Genetics, 2026
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
39730912 (PubMed )
Supplement: 109_2024_2510_MOESM2_ESM.xlsx › Sheet1
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S4Tab_DD-166_DNA_variants
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
Tuncay IO et al.
Npj Genomic Medicine, 2022
35190550 (PubMed )
Supplement: 41525_2022_284_MOESM2_ESM.xlsx › Supplementary_Table_9
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Wiszniewski W et al.
European Journal of Human Genetics : Ejhg, 2018
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