2025
Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease
Ain N, Kulkarni N, Ruan J, Ruan A, Nair S, Mehta S, Mistry P. Investigating the genomic basis of phenotypic diversity among siblings in Gaucher disease. Molecular Genetics And Metabolism 2025, 144: 108633. DOI: 10.1016/j.ymgme.2024.108633.Peer-Reviewed Original Research
2023
Severe pulmonary arterial hypertension in Gaucher disease type 1
Basiri M, Ruan J, Nair S, Guo L, Mistry P. Severe pulmonary arterial hypertension in Gaucher disease type 1. Molecular Genetics And Metabolism 2023, 138: 107021. DOI: 10.1016/j.ymgme.2022.107021.Peer-Reviewed Original ResearchThe risk of hepatocellular carcinoma is markedly increased in Gaucher disease
Basiri M, Ruan J, Nair S, Lau H, Mistry P, Taddei T. The risk of hepatocellular carcinoma is markedly increased in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107022. DOI: 10.1016/j.ymgme.2022.107022.Peer-Reviewed Original ResearchSingle cell resolution of neurodegeneration in Gaucher disease
Nair S, Belinsky G, Ruan J, Basiri M, Klinger K, Mistry P. Single cell resolution of neurodegeneration in Gaucher disease. Molecular Genetics And Metabolism 2023, 138: 107233. DOI: 10.1016/j.ymgme.2022.107233.Peer-Reviewed Original Research
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