Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
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
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40672482 (PubMed )
Supplement: media-1.pdf
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
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_12
Understanding monogenic Parkinson's disease at a global scale.
Junker J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Use of Ambroxol as Therapy for Gaucher Disease.
Zhan X et al.
Jama Network Open, 2023
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease.
Venkatachari M et al.
American Journal of Medical Genetics. Part A, 2023
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Dimitriou E et al.
Molecular Genetics and Metabolism Reports, 2020
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
Sheth J et al.
Bmc Medical Genetics, 2019
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.
Geiger JT et al.
Neurobiology of Disease, 2016
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
Siebert M et al.
Jimd Reports, 2013
Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease.
Sawkar AR et al.
Cellular and Molecular Life Sciences : Cmls, 2006
Genetic and clinical features of patients with Gaucher disease in Hungary.
Erdos M et al.
Blood Cells, Molecules & Diseases, 0
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