Thierry Vilboux - Concepedia

Author

Thierry Vilboux

National Human Genome Research Institute

Also Known As

Andrew R Cullinane, Joshi Stephen, May C. Malicdan, May Christine Malicdan, NISC Comparative Sequencing Program, T. Vilboux, Thierry Vilboux, Vilboux Thierry, Vilboux, Thierry, William A. Gahl

Publications

2.9K

Citations

H-Index

Concepts

All Affiliations

National Human Genome Research Institute National Institutes of Health Inova Health System Office of the Director Johns Hopkins University

About

Thierry Vilboux is an author at National Human Genome Research Institute specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	16	1.4K
2	Cell Biology	3	3	571
3	Public Health	2	2	172
4	Health Sciences	1	1	255
5	Gastroenterology	1	1	56

Thierry Vilboux

Publications

2.3K

Citations

H-Index

Page 1

	Year	Citations
Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells Daniel Paull, Ana Sevilla, Hongyan Zhou, Nature Methods Tissue EngineeringRegenerative MedicineInduced Pluripotent Stem CellDevelopmental BiologyHealth Sciences	2015	255
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, Nature Genetics Blood PlateletGeneticsPathogenesisHematologyBlood Cell	2011	255
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis Galina Nesterova, May Christine V. Malicdan, Kaori Yasuda, Clinical Journal of the American Society of Nephrology	2013	151
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability Yair Anikster, Tobias B. Haack, Thierry Vilboux, The American Journal of Human Genetics Genome InstabilityBiallelic MutationsMendelian DisorderGenetic DisorderGenetics	2017	149
A Congenital Neutrophil Defect Syndrome Associated with Mutations in<i>VPS45</i> Thierry Vilboux, Atar Lev, May Christine V. Malicdan, New England Journal of Medicine	2013	142
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center Thierry Vilboux, Dan Doherty, Ian A. Glass, Genetics in Medicine Mendelian DisorderJoubert SyndromeGenetic DisorderGeneticsMolecular Genetic Findings	2017	129
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence Jakob M. Goldmann, Vladimir B. Seplyarskiy, Wendy S.W. Wong, Nature Genetics Genome InstabilitySomatic VariantGeneticsDna ReplicationMutation Clusters	2018	104
Prospective Evaluation of Kidney Disease in Joubert Syndrome Leah Fleming, Daniel Doherty, Melissa A. Parisi, Clinical Journal of the American Society of Nephrology	2017	74
Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia Andrew R. Cullinane, Thierry Vilboux, Kevin O’Brien, Journal of Investigative Dermatology Homozygosity MappingGenetic DisorderWhole-exome SequencingGeneticsMedicine	2011	73
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity David R. Adams, Hongjie Yuan, Todd Holyoak, Molecular Genetics and Metabolism Rare DiseasesMendelian DisorderDisease MechanismGenetic DisorderMedicine	2014	65

Page 1