Christèle Dubourg

6.4k citations

67 papers · 1.9k indexed · h-index 28

Developmental Biology top 2%
Genetics top 2%
- Genomic variations and chromosomal abnormalities 19
- Cleft Lip and Palate Research 8
- Genetics and Neurodevelopmental Disorders 6
Pediatrics, Perinatology and Child Health top 2%
- Prenatal Screening and Diagnostics 8
- Fetal and Pediatric Neurological Disorders 8
Molecular Biology top 5%
- Hedgehog Signaling Pathway Studies 31
- Congenital heart defects research 7
- Genomics and Chromatin Dynamics 7
Developmental Neuroscience top 10%

Co-authors: Sylvie Odent Véronique David Laurent Pasquier Claude Bendavid Cathérine Henry Erich Roessler Maximilian Muenke Valérie Dupé
Cited by: Developmental Biology Genetics Pediatrics, Perinatology and Child Health
Journals: Journal of Biological Chemistry (1 paper)Nature Genetics (1 paper)SHILAP Revista de lepidopterología (1 paper)
Partner nations: France United States United Kingdom

In The Last Decade

Christèle Dubourg

64 papers receiving 1.9k citations

Peers

Countries citing papers authored by Christèle Dubourg

Since Specialization

Citations

This map shows the geographic impact of Christèle Dubourg'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 Christèle Dubourg with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Christèle Dubourg more than expected).

Fields of papers citing papers by Christèle Dubourg

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Christèle Dubourg. 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 Christèle Dubourg. The network helps show where Christèle Dubourg may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Christèle Dubourg, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Christèle Dubourg Line = papers co-authored together Christèle Dubourg links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report Clinical Genetics ·Anaïk Previdi,Christèle Dubourg,Valérie Cormier‐Daire,Mélanie Fradin,Corinne Collet	2024	0
2	Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy Human Genetics ·Johannes Kopp,Leonard A. Koch,Hristiana Lyubenova,Oliver Küchler,Manuel Holtgrewe,Andranik Ivanov,Christèle Dubourg,Erika Launay,Sebastian Brachs,Stefan Mundlos,Nadja Ehmke,Dominik Seelow,Mélanie Fradin,Uwe Kornak,Björn Fischer‐Zirnsak	2024	2
3	Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient The CRISPR Journal ·Delphine Leclerc,Louise Goujon,Sylvie Jaillard,Bénédicte Nouyou,Laurence Cluzeau,Léna Damaj,Christèle Dubourg,Amandine Etcheverry,Thierry Levade,Roseline Froissart,Stéphane Dréano,X. Guillory,Leif A. Eriksson,Erika Launay,F. Mouriaux,Marc‐Antoine Belaud‐Rotureau,Sylvie Odent,David Gilot	2023	2
4	Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report Pediatric Dermatology ·Marion Rolland,Christèle Dubourg,Auriane Cospain,C. Droitcourt,Laurent Pasquier	2022	6
5	Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype Clinical Genetics ·Auriane Cospain,Élise Schaefer,Marie Faoucher,Christèle Dubourg,Wilfrid Carré,Varoona Bizaoui,Jessica Assoumani,Lionel Van Maldergem,Amélie Piton,Bénédicte Gérard,Frédéric Tran Mau‐Them,Ange‐Line Bruel,Laurence Faivre,Florence Démurger,Laurent Pasquier,Sylvie Odent,Mélanie Fradin,Alinoë Lavillaureix	2021	4
6	Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility Maturitas ·Sylvie Jaillard,Rajini Sreenivasan,Marion Beaumont,Gorjana Robevska,Christèle Dubourg,Ingrid Knarston,Linda Akloul,Jocelyn van den Bergen,Sylvie Odent,Brittany Croft,G Jouve,Sonia Grover,Solène Duros,Céline Pimentel,Marc‐Antoine Belaud‐Rotureau,Katie Ayers,Célia Ravel,Elena J. Tucker,Andrew Sinclair	2019	26
7	Du cyclope à la réalité médecine/sciences ·Valérie Dupé,Christèle Dubourg,Marie de Tayrac,Véronique David	2017	1
8	Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions Molecular Syndromology ·Christèle Dubourg,Frédérique Bonnet‐Brilhault,Annick Toutain,Cyril Mignot,Aurélia Jacquette,Anne Dieux,M. Gérard,M.-P. Beaumont-Epinette,Sophie Julia,B. Isidor,Massimiliano Rossi,S. Odent,Claude Bendavid,Catherine Barthélémy,Alain Verloès,Véronique David	2014	20
9	Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy Molecular Genetics and Metabolism ·Virginie Vauthier,Sylvie Jaillard,Hubert Journel,Christèle Dubourg,Ralf Jockers,Julie Dam	2012	36
10	Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci Orphanet Journal of Rare Diseases ·Karine Morcel,Tanguy Watrin,Laurent Pasquier,Lucie Rochard,Cédric Le Caignec,Christèle Dubourg,Philippe Loget,Bernard‐Jean Paniel,Sylvie Odent,Véronique David,Isabelle Pellerin,Claude Bendavid,Daniel Guerrier	2011	42
11	Clinical utility gene card for: Holoprosencephaly European Journal of Human Genetics ·Christèle Dubourg,Véronique David,Andrea Gropman,Sandra Mercier,Maximilian Muenke,Sylvie Odent,Daniel Pineda‐Alvarez,Erich Roessler	2010	11
12	Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH American Journal of Medical Genetics Part A ·Joris Andrieux,Christèle Dubourg,Marlène Rio,Tania Attié‐Bitach,Elsa Delaby,Michèle Mathieu,Hubert Journel,Henri Copin,Eléonore Blondeel,Martine Doco‐Fenzy,Emilie Landais,Bruno Delobel,Sylvie Odent,Sylvie Manouvrier‐Hanu,Muriel Holder‐Espinasse	2009	27
13	Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma British Journal of Cancer ·Jean‐Jacques Patard,Nathalie Rioux‐Leclercq,Damien Masson,Salim Zerrouki,Florence Jouan,Nicolas Collet,Christèle Dubourg,Bernard Lobel,Marc G. Denis,Patricia Fergelot	2009	74
14	The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis Human Mutation ·Erich Roessler,Kênia Balbi El-Jaick,Christèle Dubourg,Jorge I. Vélez,Benjamin D. Solomon,Daniel Pineda‐Alvarez,Felicitas Lacbawan,Nan Zhou,Maia V. Ouspenskaia,Aimée Paulussen,Hubert Smeets,Ute Hehr,Claude Bendavid,Sherri J. Bale,Sylvie Odent,Véronique David,Maximilian Muenke	2009	68
15	TCF4Deletions in Pitt-Hopkins Syndrome Human Mutation ·Irina Giurgea,Chantal Missirian,Pierre Cacciagli,Sandra Whalen,Tessa Fredriksen,Thierry Gaillon,Julia Rankin,Michèle Mathieu‐Dramard,G Morin,Dominique Martin‐Coignard,Christèle Dubourg,B. Chabrol,Jacqueline Arfi,Fabienne Giuliano,Jean Claude Lambert,Nicole Philip,Pierre Sarda,Laurent Villard,Michel Goossens,Anne Moncla	2008	45
16	Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein Nature Genetics ·Yongsu Jeong,Federico Coluccio Leskow,Kênia Balbi El-Jaick,Erich Roessler,Maximilian Muenke,Anastasia K. Yocum,Christèle Dubourg,Xue Li,Xin Geng,Guillermo Oliver,Douglas J. Epstein	2008	143
17	Phenotypic variability of a 4q34 → qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother European Journal of Medical Genetics ·Claude Bendavid,Laurent Pasquier,Tanguy Watrin,Karine Morcel,Josette Lucas,Isabelle Gicquel,Christèle Dubourg,Cathérine Henry,Véronique David,Sylvie Odent,Jean Lévêque,Isabelle Pellerin,Daniel Guerrier	2006	27
18	Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly Journal of Biological Chemistry ·Élisabeth Traiffort,Christèle Dubourg,Hélène Faure,Didier Rognan,Sylvie Odent,Marie‐Renée Durou,Véronique David,Martial Ruat	2004	60
19	Phenotypic and molecular variability of the holoprosencephalic spectrum American Journal of Medical Genetics Part A ·Leïla Lazaro,Christèle Dubourg,Laurent Pasquier,Franck Le Duff,Martine Blayau,Marie‐Renée Durou,Armelle Thomas de la Pintière,Céline Aguilella,Véronique David,Sylvie Odent	2004	53
20	Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases Cytogenetic and Genome Research ·Lucienne Guenet,Catherine Henry,Bertrand Toutain,Christèle Dubourg,J. Y. Le Gall,Véronique David,André Le Treut	2000	7

About Christèle Dubourg

Christèle Dubourg is a scholar working on Developmental Biology, Genetics and Pediatrics, Perinatology and Child Health, having authored 67 papers that have together received 1.9k indexed citations. Recurring topics across this work include Hedgehog Signaling Pathway Studies (31 papers), Genomic variations and chromosomal abnormalities (19 papers), Cleft Lip and Palate Research (8 papers), Prenatal Screening and Diagnostics (8 papers), Fetal and Pediatric Neurological Disorders (8 papers), Congenital heart defects research (7 papers), Genomics and Chromatin Dynamics (7 papers) and Genetics and Neurodevelopmental Disorders (6 papers). The work is most often cited by research in Developmental Biology (137 citations), Genetics (1.1k citations) and Pediatrics, Perinatology and Child Health (442 citations). Christèle Dubourg has collaborated with scholars based in France, United States and United Kingdom. Frequent co-authors include Sylvie Odent, Véronique David, Laurent Pasquier, Claude Bendavid, Véronique David, Cathérine Henry, Erich Roessler, Maximilian Muenke, Sylvie Odent and Valérie Dupé. Their work appears in journals such as Journal of Biological Chemistry, Nature Genetics and SHILAP Revista de lepidopterología.

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