Thierry Vilboux

Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells

Daniel Paull, Ana Sevilla, Hongyan Zhou et al. · Nature Methods · 2015 · 255 citations

Tissue Engineering, Regenerative Medicine, Induced Pluripotent Stem Cell +14

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Meral Gunay‐Aygun, Tzipora C. Falik‐Zaccai, Thierry Vilboux et al. · Nature Genetics · 2011 · 255 citations · Full text

Blood Platelet, Genetics, Pathogenesis +8

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Galina Nesterova, May Christine V. Malicdan, Kaori Yasuda et al. · Clinical Journal of the American Society of Nephrology · 2013 · 151 citations · Full text

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 149 citations · Full text

Genome Instability, Biallelic Mutations, Mendelian Disorder +8

A Congenital Neutrophil Defect Syndrome Associated with Mutations in<i>VPS45</i>

Thierry Vilboux, Atar Lev, May Christine V. Malicdan et al. · New England Journal of Medicine · 2013 · 142 citations · Full text