Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants
CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.
Xu J et al.
Embo Molecular Medicine, 2025
40926052 (PubMed )
Supplement: 44321_2025_302_MOESM1_ESM.xls › ____
Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population.
Li Y et al.
Journal of Alzheimer's Disease : Jad, 2024
Identification of potential susceptibility genes in patients with primary Sjögren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing.
Li M et al.
Arthritis Research & Therapy, 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1
Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.
Zheng R et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Somatic
Non-synonymous GIGYF2 variants in Parkinson's disease from two Asian populations.
Tan EK et al.
Human Genetics, 2009
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