Associated Papers
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
Gaucher's Disease in an Adult Male: A Case Report of a Rare Mutation.
Bhati AA et al.
Cureus, 2024
[Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].
Zhang TB et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F et al.
Diagnostics (basel, Switzerland), 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
Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.
Barney AM et al.
Public Health Genomics, 2021
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
Mattošová S et al.
The Israel Medical Association Journal : Imaj, 2015
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
Ankleshwaria C et al.
Journal of Human Genetics, 2014
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.
Rolfs A et al.
Plos One, 2013
24278166 (PubMed )
Supplement: pone.0079732.s001.pdf
Hematologically important mutations: Gaucher disease.
Beutler E et al.
Blood Cells, Molecules & Diseases, 0
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
Emre S et al.
European Journal of Medical Genetics, 0
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