Thierry Vilboux — Virginia Commonwealth University

Area of research

Genetics · Pediatrics, Perinatology and Child Health

Research interest

Research interests include Biology, Induced pluripotent stem cell, Reprogramming, Computational biology, Regenerative medicine, and Joubert syndrome.

Recent publications

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Genetics in Medicine 2017cited by 131position: firstdoi

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><scp>TIMM50</scp></i> mutations

Clinical Genetics 2016cited by 41position: middledoi

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

Nature Methods 2015cited by 262position: middledoi

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

Molecular Genetics and Metabolism 2014cited by 65position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

May Christine V. Malicdan · National Human Genome Research Institute2 papers (2016–2017)William A. Gahl · National Institutes of Health2 papers (2014–2017)— · 1 papers (2016–2016)Nadirah Damseh · Hospital for Sick Children1 papers (2016–2016)Thomas C. Markello · National Human Genome Research Institute1 papers (2014–2014)Ariane Soldatos · National Heart Lung and Blood Institute1 papers (2017–2017)Orly Elpeleg · Hebrew University of Jerusalem1 papers (2016–2016)G.A. Wells · Africa Health Research Institute1 papers (2014–2014)— · 1 papers (2016–2016)Conisha Holloman · University of Rochester1 papers (2014–2014)Ann Saada · Hebrew University of Jerusalem1 papers (2016–2016)— · 1 papers (2016–2016)George Grahame · Case Western Reserve University1 papers (2014–2014)Stephen F. Traynelis · Emory University1 papers (2014–2014)Cynthia J. Tifft · University of Maryland, College Park1 papers (2014–2014)Eli Hershkovitz · National Human Genome Research Institute1 papers (2016–2016)Ian G. Phelps · Seattle Children's Hospital1 papers (2017–2017)Ann C. M. Smith · National Human Genome Research Institute1 papers (2014–2014)— · 1 papers (2016–2016)Simon Edvardson · Hebrew University of Jerusalem1 papers (2016–2016)

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