Thierry Vilboux
Inova Health System(US)National Institutes of Health(US)National Human Genome Research Institute(US)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Fetal and Pediatric Neurological Disorders, Cancer Genomics and Diagnostics, Hedgehog Signaling Pathway Studies, Mitochondrial Function and Pathology
Most-Cited Works
- → Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells(2015)259 cited
- → NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules(2011)258 cited
- → Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability(2017)153 cited
- → 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis(2013)152 cited
- → A Congenital Neutrophil Defect Syndrome Associated with Mutations inVPS45(2013)143 cited
- → Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center(2017)130 cited
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