B. Grandchamp

发表论文 269 篇 · 总被引 15117 次 · h-index 63

代表论文

• The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population (2013 · PLoS ONE · 被引 168)
• Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis (2016 · European Respiratory Journal · 被引 162)
• Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis (2015 · European Respiratory Journal · 被引 154)
• Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer (2016 · BMC Cancer · 被引 83)
• PARKIN Inactivation Links Parkinson's Disease to Melanoma. (2016 · Journal of the National Cancer Institute · 被引 74)
• Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies (2014 · Human Mutation · 被引 56)