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T. Vilboux · SciRah

Researcher profile · Semantic Scholar

T. Vilboux

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T. Vilboux — researcher profile on SciRah

h-index: 31
Works: 74
Citations: 2,745

Most-cited papers

NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules
M. Gunay-Aygun, T. Falik-Zaccai, T. Vilboux, Yifat Zivony-Elboum +20 more
2011Nature Genetics265 citations Open access
Semantic Scholar
Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells
Daniel Paull, A. Sevilla, Hongyan Zhou, Aana Hahn +26 more
2015Nature Methods232 citations Open access
Semantic Scholar
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Y. Anikster, T. Haack, T. Vilboux, B. Pode-Shakked +36 more
2017American Journal of Human Genetics149 citations Open access
Semantic Scholar
A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45
T. Vilboux, A. Lev, M. Malicdan, A. Simon +28 more
2013New England Journal of Medicine141 citations Open access
Semantic Scholar
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Galina V. Nesterova, M. Malicdan, Kaori Yasuda, T. Sakaki +11 more
2013American Society of Nephrology. Clinical Journal131 citations Open access
Semantic Scholar
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
T. Vilboux, D. Doherty, I. Glass, M. Parisi +14 more
2017Genetics in Medicine123 citations Open access
Semantic Scholar
Mutation Update for GNE Gene Variants Associated with GNE Myopathy
Frank Celeste, T. Vilboux, C. Ciccone, J. K. D. de Dios +6 more
2014Human Mutation113 citations Open access
Semantic Scholar
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria
T. Vilboux, Michael A Kayser, W. Introne, P. Suwannarat +6 more
2009Human Mutation89 citations Open access
Semantic Scholar
Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia
A. Cullinane, T. Vilboux, K. O'Brien, J. Curry +8 more
2011Journal of Investigative Dermatology75 citations Open access
Semantic Scholar
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence
J. Goldmann, V. Seplyarskiy, Wendy S. W. Wong, T. Vilboux +7 more
2018Nature Genetics72 citations Open access
Semantic Scholar
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, Hong-Jie Yuan, T. Holyoak, Katrina H Arajs +21 more
2014Molecular Genetics and Metabolism67 citations Open access
Semantic Scholar
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Leah R. Fleming, D. Doherty, M. Parisi, I. Glass +12 more
2017American Society of Nephrology. Clinical Journal64 citations Open access
Semantic Scholar
Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy
O. Barel, M. Malicdan, B. Ben-Zeev, J. Kandel +30 more
2017Brain : a journal of neurology60 citations Open access
Semantic Scholar
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
A. Poretti, J. Snow, A. Summers, A. Tekes +13 more
2017Journal of Medical Genetics59 citations
Semantic Scholar
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center
B. Brooks, W. Zein, A. H. Thompson, M. Mokhtarzadeh +9 more
2018Ophthalmology (Rochester, Minn.)53 citations Open access
Semantic Scholar
A novel inborn error of the Coenzyme Q10 biosynthesis pathway: Cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency
McV Malicdan, T. Vilboux, B. Ben-Zeev, Jennifer Guo +19 more
2017Human Mutation53 citations Open access
Semantic Scholar
Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion
T. Vilboux, C. Ciccone, J. Blancato, G. Cox +5 more
2011PLoS ONE49 citations Open access
Semantic Scholar
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
M. Malicdan, T. Vilboux, J. Stephen, D. Maglić +15 more
2015Journal of Medical Genetics48 citations Open access
Semantic Scholar
Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations
J. Stephen, T. Vilboux, Y. Haberman, H. Pri-Chen +14 more
2016European Journal of Human Genetics47 citations Open access
Semantic Scholar
Studying the urine microbiome in superficial bladder cancer: samples obtained by midstream voiding versus cystoscopy
Suchitra K. Hourigan, Wei Zhu, Wendy S.W.Wong, Nicole C. Clemency +7 more
2020BMC Urology45 citations Open access
Semantic Scholar
Genetic basis of cystinosis in Turkish patients: a single-center experience
R. Topaloğlu, T. Vilboux, T. Coskun, F. Ozaltin +7 more
2011Pediatric nephrology (Berlin, West)45 citations Open access
Semantic Scholar
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations
M. A. Shahrour, O. Staretz-Chacham, D. Dayan, J. Stephen +16 more
2016Clinical Genetics38 citations Open access
Semantic Scholar
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
W. Westbroek, M. Tuchman, B. Tinloy, O. De Wever +7 more
2008Molecular Genetics and Metabolism37 citations Open access
Semantic Scholar
Assessment of the Urinary Microbiome in Children Younger Than 48 Months
Lauren Kinneman, Wei Zhu, Wendy S. W. Wong, Nicole C. Clemency +9 more
2020The Pediatric Infectious Disease Journal36 citations
Semantic Scholar
Coat colour in dogs: identification of the Merle locus in the Australian shepherd breed
B. Hédan, Sébastien Corre, C. Hitte, S. Dréano +6 more
2006BMC Veterinary Research36 citations Open access
Semantic Scholar
CELSR2, Encoding a Planar Cell Polarity Protein, Is a Putative Gene in Joubert Syndrome with Cortical Heterotopia, Microophthalmia, and Growth Hormone Deficiency
T. Vilboux, M. Malicdan, Joseph C Roney, A. Cullinane +9 more
2017American Journal of Medical Genetics. Part A35 citations Open access
Semantic Scholar
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn
A. Pavey, D. Bodian, T. Vilboux, A. Khromykh +8 more
2017Genetics in Medicine35 citations Open access
Semantic Scholar
Neuropsychological Phenotypes of 76 Individuals with Joubert Syndrome evaluated at a Single Center
A. Summers, J. Snow, E. Wiggs, Alexander G. Liu +12 more
2017American Journal of Medical Genetics. Part A35 citations Open access
Semantic Scholar
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
J. Stephen, T. Vilboux, Luhe Mian, C. Kuptanon +11 more
2017Human Genetics34 citations Open access
Semantic Scholar
Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
Seth I. Berger, C. Ciccone, Karen L. Simon, M. Malicdan +11 more
2017Human Genetics32 citations Open access
Semantic Scholar
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
T. Vilboux, M. Malicdan, Yun-Min Chang, Jennifer Guo +19 more
2016Journal of Medical Genetics31 citations Open access
Semantic Scholar
Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants
Megan S. Kane, Callie J. Diamonstein, N. Hauser, J. Deeken +2 more
2019Genes and Diseases28 citations Open access
Semantic Scholar
Defective ciliogenesis in INPP5E-related Joubert syndrome
I. Hardee, A. Soldatos, M. Davids, T. Vilboux +12 more
2017American Journal of Medical Genetics. Part A28 citations Open access
Semantic Scholar
Gut microbial composition difference between pediatric ALL survivors and siblings
Ronay Thomas, Wendy S. W. Wong, Reem Saadon, T. Vilboux +4 more
2020Pediatric Hematology & Oncology27 citations Open access
Semantic Scholar
Characteristics of liver disease in 100 Individuals with Joubert syndrome prospectively evaluated at a single center
A. Strongin, T. Heller, D. Doherty, I. Glass +12 more
2017Journal of Pediatric Gastroenterology and Nutrition - JPGN26 citations Open access
Semantic Scholar
Chediak-Higashi Syndrome with early Developmental Delay resulting from Paternal Heterodisomy of Chromosome 1
I. Manoli, Gretchen A. Golas, W. Westbroek, T. Vilboux +10 more
2010American Journal of Medical Genetics. Part A26 citations Open access
Semantic Scholar
Progressive Retinal Atrophy in the Border Collie: A new XLPRA
T. Vilboux, G. Chaudieu, P. Jeannin, D. Delattre +6 more
2008BMC Veterinary Research26 citations Open access
Semantic Scholar
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.
M. Wamelink, E. Struys, Erwin E. W. Jansen, H. Blom +5 more
2011Molecular Genetics and Metabolism24 citations Open access
Semantic Scholar
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy
Tzipora C. Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, T. Vilboux +23 more
2017Brain : a journal of neurology23 citations Open access
Semantic Scholar
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
Megan S. Kane, T. Vilboux, L. Wolfe, Paul R. Lee +5 more
2016Brain : a journal of neurology20 citations Open access
Semantic Scholar
Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients
Krithika Bhuvaneshwar, Michael Harris, Yuriy Gusev, S. Madhavan +5 more
2019BMC Cancer19 citations Open access
Semantic Scholar
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy
D. Bodian, T. Vilboux, Suchitra K. Hourigan, Callie Jenevein +5 more
2017Cold Spring Harbor molecular case studies19 citations Open access
Semantic Scholar
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital
N. Hauser, B. Solomon, T. Vilboux, A. Khromykh +2 more
2018Molecular Genetics & Genomic Medicine17 citations Open access
Semantic Scholar
TMEM231 Gene Conversion Associated with Joubert and Meckel–Gruber Syndromes in the Same Family
D. Maglić, J. Stephen, M. Malicdan, Jennifer Guo +6 more
2016Human Mutation16 citations Open access
Semantic Scholar
A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening
C. Vocke, L. Fleming, Anna M. Piskorski, A. Amin +13 more
2022American Journal of Medical Genetics. Part A15 citations Open access
Semantic Scholar
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl Inositol deficiency due to a PIGM promoter mutation
B. Pode-Shakked, G. Heimer, T. Vilboux, D. Marek-Yagel +22 more
2019Molecular Genetics and Metabolism15 citations Open access
Semantic Scholar
Liver Prometastatic Reaction: Stimulating Factors and Responsive Cancer Phenotypes.
F. Vidal-Vanaclocha, Olatz Crende, Cira García de Durango, A. Herreros-Pomares +13 more
2020Seminars in Cancer Biology13 citations
Semantic Scholar
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures
D. Bodian, John M. Schreiber, T. Vilboux, A. Khromykh +1 more
2018Cold Spring Harbor molecular case studies12 citations Open access
Semantic Scholar
Differences in maternal gene expression in Cesarean section delivery compared with vaginal delivery
Prachi Kothiyal, Keriann Schulkers, Xinyue Liu, S. Hazrati +8 more
2020Scientific Reports10 citations Open access
Semantic Scholar
Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause
D. Bodian, T. Vilboux, N. Hauser
2019Allergy, Asthma & Clinical Immunology10 citations Open access
Semantic Scholar

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