Thierry Vilboux

2.9k citations

49 papers · 1.2k indexed · h-index 23

Molecular Biology
Genetics top 5%
Pediatrics, Perinatology and Child Health top 5%
Pathology and Forensic Medicine top 10%
Epidemiology

Co-authors: William A. Gahl May Christine V. Malicdan Marjan Huizing Meral Gunay‐Aygun Carla Ciccone Meghana Vemulapalli John E. Niederhuber James C. Mullikin
Topics: Genetic and Kidney Cyst Diseases (13 papers)Fetal and Pediatric Neurological Disorders (10 papers)Hedgehog Signaling Pathway Studies (7 papers)
Cited by: Genetics Pediatrics, Perinatology and Child Health Biochemistry
Journals: Nature Genetics PLoS ONE Neurology
Partner nations: United States United Kingdom Netherlands

In The Last Decade

Thierry Vilboux

48 papers receiving 1.2k citations

Peers

Countries citing papers authored by Thierry Vilboux

Since Specialization

Citations

This map shows the geographic impact of Thierry Vilboux's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Thierry Vilboux with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Thierry Vilboux more than expected).

Fields of papers citing papers by Thierry Vilboux

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Thierry Vilboux. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Thierry Vilboux. The network helps show where Thierry Vilboux may publish in the future.

Co-authorship network of co-authors of Thierry Vilboux

This figure shows the co-authorship network connecting the top 25 collaborators of Thierry Vilboux. A scholar is included among the top collaborators of Thierry Vilboux based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Thierry Vilboux. Thierry Vilboux is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Liver prometastatic reaction: Stimulating factors and responsive cancer phenotypes 2020 ·Seminars in Cancer Biology ·Fernando Vidal‐Vanaclocha,Olatz Crende,(unknown),Alejandro Herreros‐Pomares,Sandra López‐Domènech,Álvaro González,(unknown),Thierry Vilboux,Riccardo Caruso,Hipólito Durán,Antonio Gil‐Moreno,Benedetto Ielpo,Fernando Lapuente,Yolanda Quijano,Emilio Vicente,(unknown),Eduardo M. Sotomayor	9
2	Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants 2019 ·Genes & Diseases ·Megan Kane,(unknown),Natalie Hauser,John F. Deeken,John E. Niederhuber,Thierry Vilboux	17
3	Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause 2019 ·Allergy Asthma and Clinical Immunology ·Dale L. Bodian,Thierry Vilboux,Natalie Hauser	8
4	Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center 2018 ·Ophthalmology ·Brian P. Brooks,Wadih M. Zein,A. Thompson,(unknown),Dan Doherty,Melissa A. Parisi,Ian A. Glass,May Christine V. Malicdan,Thierry Vilboux,Meghana Vemulapalli,James C. Mullikin,William A. Gahl,Meral Gunay‐Aygun	41
5	Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence 2018 ·Nature Genetics ·Jakob M. Goldmann,Vladimir B. Seplyarskiy,Wendy S.W. Wong,Thierry Vilboux,Pieter B. Neerincx,Dale L. Bodian,Benjamin D. Solomon,Joris A. Veltman,John F. Deeken,Christian Gilissen,John E. Niederhuber	46
6	Germline De Novo Mutation Clusters Arise During Oocyte Aging in Genomic Regions With High Double-Strand-Break Incidence 2018 ·Obstetrical & Gynecological Survey ·Jakob M. Goldmann,Vladimir B. Seplyarskiy,Wendy S.W. Wong,Thierry Vilboux,Pieter B. Neerincx,Dale L. Bodian,Benjamin D. Solomon,Joris A. Veltman,John F. Deeken,Christian Gilissen,John E. Niederhuber	4
7	Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency 2017 ·Human Genetics ·(unknown),Joshi Stephen,Thierry Vilboux,(unknown),(unknown),(unknown),(unknown),Dawn Maynard,Joy Bryant,Roxanne Fischer,Meghana Vemulapalli,James C. Mullikin,Marjan Huizing,William A. Gahl,May Christine V. Malicdan,Meral Gunay‐Aygun	26
8	Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center 2017 ·Genetics in Medicine ·Thierry Vilboux,Dan Doherty,Ian A. Glass,Melissa A. Parisi,Ian G. Phelps,Andrew R. Cullinane,Wadih M. Zein,Brian P. Brooks,Theo Heller,Ariane Soldatos,Neal L. Oden,(unknown),Meghana Vemulapalli,James C. Mullikin,May Christine V. Malicdan,William A. Gahl,Meral Gunay‐Aygun	88
9	Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants 2017 ·Human Genetics ·(unknown),Seth Berger,Carla Ciccone,(unknown),May Christine V. Malicdan,Thierry Vilboux,Charles J. Billington,Roxanne Fischer,Wendy J. Introne,Andrea Gropman,Jan Blancato,James C. Mullikin,William A. Gahl,Marjan Huizing,Ann C. M. Smith	18
10	Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy 2017 ·Molecular Case Studies ·Dale L. Bodian,Thierry Vilboux,Suchitra K. Hourigan,(unknown),Haresh Mani,Kathleen C. Kent,Alina Khromykh,Benjamin D. Solomon,Natalie Hauser	12
11	Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations 2016 ·European Journal of Human Genetics ·Joshi Stephen,Thierry Vilboux,Yael Haberman,(unknown),Ben Pode‐Shakked,(unknown),Dina Marek‐Yagel,Ortal Barel,Ayelet Di Segni,Eran Eyal,(unknown),Avishay Lahad,(unknown),Gideon Rechavi,May Christine V. Malicdan,Batia Weiss,William A. Gahl,Yair Anikster	34
12	X-Linked Candidate Genes for a Ciliopathy-Like Disorder 2016 ·Molecular Syndromology ·(unknown),Thierry Vilboux,(unknown),Margot D. Ahronovich,Benjamin D. Solomon	0
13	Genetic Analysis Reveals that GNE Myopathy is an Underdiagnosed Neuromuscular Disorder (P2.044) 2015 ·Neurology ·Marjan Huizing,May Christine V. Malicdan,(unknown),Thierry Vilboux,Carla Ciccone,William A. Gahl,Nuria Carrillo	1
14	Immune Complex-Mediated Autoimmunity in a Patient With Smith-Magenis Syndrome (del 17p11.2) 2014 ·JCR Journal of Clinical Rheumatology ·Jianying Yang,Settara C. Chandrasekharappa,Thierry Vilboux,Ann C. M. Smith,Erik Peterson	3
15	1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis 2013 ·Clinical Journal of the American Society of Nephrology ·Galina Nesterova,May Christine V. Malicdan,Kaori Yasuda,Toshiyuki Sakaki,Thierry Vilboux,Carla Ciccone,Ronald L. Horst,Yan Huang,Gretchen Golas,Wendy J. Introne,Marjan Huizing,David R. Adams,Cornelius F. Boerkoel,Michael T. Collins,William A. Gahl	100
16	Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion 2011 ·PLoS ONE ·Thierry Vilboux,Carla Ciccone,Jan Blancato,Gerald F. Cox,Charu Deshpande,Wendy J. Introne,William A. Gahl,Ann C. M. Smith,Marjan Huizing	31
17	Genetic basis of cystinosis in Turkish patients: a single-center experience 2011 ·Pediatric Nephrology ·Rezan Topaloğlu,Thierry Vilboux,Turgay Coşkun,Fatih Özaltın,(unknown),Meral Gunay‐Aygun,Ayşı̇n Bakkaloğlu,Nesrin Beşbaş,Lambert van den Heuvel,Robert Kleta,William A. Gahl	39
18	Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening 2010 ·Molecular Genetics and Metabolism ·Mirjam M. C. Wamelink,Eduard A. Struys,Erwin E. W. Jansen,Henk J. Blom,Thierry Vilboux,William A. Gahl,Martin Kömhoff,C. Jakobs,Elena Levtchenko	14
19	Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria 2009 ·Human Mutation ·Thierry Vilboux,(unknown),Wendy J. Introne,Pim Suwannarat,Isa Bernardini,Roxanne Fischer,Kevin O’Brien,Robert Kleta,Marjan Huizing,William A. Gahl	56
20	A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome 2008 ·Molecular Genetics and Metabolism ·Wendy Westbroek,M. Tuchman,(unknown),Olivier De Wever,Thierry Vilboux,Jens Michael Hertz,Henrik Hasle,Carsten Heilmann,Amanda Helip‐Wooley,Robert Kleta,William A. Gahl	23

About Thierry Vilboux

Thierry Vilboux is a scholar working on Genetics, Pediatrics, Perinatology and Child Health and Genetics, having authored 49 papers that have together received 1.2k indexed citations. Recurring topics across this work include Genetic and Kidney Cyst Diseases (13 papers), Fetal and Pediatric Neurological Disorders (10 papers) and Hedgehog Signaling Pathway Studies (7 papers). The work is most often cited by research in Genetics (530 citations), Pediatrics, Perinatology and Child Health (286 citations) and Biochemistry (80 citations). Thierry Vilboux has collaborated with scholars based in United States, United Kingdom and Netherlands. Frequent co-authors include William A. Gahl, May Christine V. Malicdan, Marjan Huizing, Meral Gunay‐Aygun, Carla Ciccone, Meghana Vemulapalli, John E. Niederhuber, James C. Mullikin, Wendy J. Introne and Melissa A. Parisi. Their work appears in journals such as Nature Genetics, PLoS ONE and Neurology.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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