Associated Papers
Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical Survey.
Manzi P et al.
Jimd Reports, 2025
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2
A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.
Yang J et al.
Npj Parkinson's Disease, 2025
40097465 (PubMed )
Supplement: 41531_2025_901_MOESM1_ESM.xlsx › Supplementary_Table_4
Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.
Khani M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S et al.
Orphanet Journal of Rare Diseases, 2021
34649574 (PubMed )
Supplement: 13023_2021_2034_MOESM1_ESM.pdf
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.
Ortega RA et al.
Jama Network Open, 2021
Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.
Blauwendraat C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
The clinical management of Type 2 Gaucher disease.
Weiss K et al.
Molecular Genetics and Metabolism, 2015
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS et al.
Human Mutation, 2008
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
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