Associated Papers
Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.
Thorpe HJ et al.
American Journal of Human Genetics, 2025
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.
Ben-Mahmoud A et al.
International Journal of Molecular Sciences, 2024
Whole-exome sequencing detected a novel APP variant in a Han-Chinese family with Alzheimer's disease.
Zhaoxia W et al.
Molecular Biology Reports, 2023
Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa.
Yao Y et al.
Experimental and Therapeutic Medicine, 2022
Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia.
Mat Yusoff Y et al.
Molecular Cytogenetics, 2021
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