Associated Papers
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM30_ESM.xlsx › Supplementary_Data_28
Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.
Chew EG et al.
Nature Aging, 2025
39572736 (PubMed )
Supplement: 43587_2024_760_MOESM3_ESM.xlsx › Supplementary_Table_8
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.
Orimo K et al.
Journal of Human Genetics, 2024
A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.
Yang Y et al.
International Journal of Molecular Sciences, 2024
Multivariate canonical correlation analysis identifies additional genetic variants for chronic kidney disease.
Osborne AJ et al.
Npj Systems Biology and Applications, 2024
38459044 (PubMed )
Supplement: 41540_2024_350_MOESM17_ESM.xlsx › Supplementary_Table_S15
Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease.
Zhou Y et al.
Npj Parkinson's Disease, 2023
Mutations in GBA, SNCA, and VPS35 are not associated with Alzheimer's disease in a Chinese population: a case-control study.
Wen YF et al.
Neural Regeneration Research, 2022
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.
Lim JL et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.
Guerreiro R et al.
The Lancet. Neurology, 2018
Prenatal diagnosis of Gaucher disease using next-generation sequencing.
Yoshida S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
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