Christèle Dubourg

6.4k citations

67 papers · 1.9k indexed · h-index 28

Molecular Biology top 5%
Genetics top 2%
Pediatrics, Perinatology and Child Health top 2%
Developmental Biology top 2%
Surgery

Co-authors: Sylvie Odent Véronique David Laurent Pasquier Claude Bendavid Cathérine Henry Erich Roessler Maximilian Muenke Valérie Dupé
Topics: Hedgehog Signaling Pathway Studies (31 papers)Genomic variations and chromosomal abnormalities (19 papers)Cleft Lip and Palate Research (8 papers)
Cited by: Developmental Biology Genetics Pediatrics, Perinatology and Child Health
Journals: Journal of Biological Chemistry Nature GeneticsSHILAP Revista de lepidopterología
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 of co-authors of Christèle Dubourg

This figure shows the co-authorship network connecting the top 25 collaborators of Christèle Dubourg. A scholar is included among the top collaborators of Christèle Dubourg 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 Christèle Dubourg. Christèle Dubourg 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	Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report 2024 ·Clinical Genetics ·(unknown),Christèle Dubourg,Valérie Cormier‐Daire,Mélanie Fradin,Corinne Collet	0
2	Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy 2024 ·Human Genetics ·(unknown),(unknown),(unknown),(unknown),Manuel Holtgrewe,Andranik Ivanov,Christèle Dubourg,Erika Launay,Sebastian Brachs,Stefan Mundlos,Nadja Ehmke,Dominik Seelow,Mélanie Fradin,Uwe Kornak,Björn Fischer‐Zirnsak	2
3	Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient 2023 ·The CRISPR Journal ·Delphine Leclerc,(unknown),Sylvie Jaillard,(unknown),(unknown),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	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 2022 ·Pediatric Dermatology ·(unknown),Christèle Dubourg,(unknown),C. Droitcourt,Laurent Pasquier	6
5	Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype 2021 ·Clinical Genetics ·(unknown),Élise Schaefer,(unknown),Christèle Dubourg,Wilfrid Carré,(unknown),(unknown),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	4
6	Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility 2019 ·Maturitas ·Sylvie Jaillard,Rajini Sreenivasan,(unknown),Gorjana Robevska,Christèle Dubourg,Ingrid Knarston,Linda Akloul,Jocelyn van den Bergen,Sylvie Odent,Brittany Croft,(unknown),Sonia Grover,(unknown),(unknown),Marc‐Antoine Belaud‐Rotureau,Katie Ayers,Célia Ravel,Elena J. Tucker,Andrew Sinclair	26
7	Du cyclope à la réalité 2017 ·médecine/sciences ·Valérie Dupé,Christèle Dubourg,Marie de Tayrac,Véronique David	1
8	Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions 2014 ·Molecular Syndromology ·Christèle Dubourg,Frédérique Bonnet‐Brilhault,Annick Toutain,Cyril Mignot,Aurélia Jacquette,Anne Dieux,(unknown),(unknown),Sophie Julia,(unknown),Massimiliano Rossi,S. Odent,Claude Bendavid,Catherine Barthélémy,Alain Verloès,Véronique David	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 2012 ·Molecular Genetics and Metabolism ·Virginie Vauthier,Sylvie Jaillard,Hubert Journel,Christèle Dubourg,Ralf Jockers,Julie Dam	36
10	Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci 2011 ·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	42
11	Clinical utility gene card for: Holoprosencephaly 2010 ·European Journal of Human Genetics ·Christèle Dubourg,Véronique David,Andrea Gropman,Sandra Mercier,Maximilian Muenke,Sylvie Odent,Daniel Pineda‐Alvarez,Erich Roessler	11
12	Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH 2009 ·American Journal of Medical Genetics Part A ·Joris Andrieux,Christèle Dubourg,Marlène Rio,Tania Attié‐Bitach,Elsa Delaby,Michèle Mathieu,Hubert Journel,Henri Copin,(unknown),Martine Doco‐Fenzy,Emilie Landais,Bruno Delobel,Sylvie Odent,Sylvie Manouvrier‐Hanu,Muriel Holder‐Espinasse	27
13	Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma 2009 ·British Journal of Cancer ·Jean‐Jacques Patard,(unknown),Damien Masson,(unknown),Florence Jouan,Nicolas Collet,Christèle Dubourg,Bernard Lobel,Marc G. Denis,Patricia Fergelot	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 2009 ·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	68
15	TCF4Deletions in Pitt-Hopkins Syndrome 2008 ·Human Mutation ·Irina Giurgea,Chantal Missirian,Pierre Cacciagli,Sandra Whalen,Tessa Fredriksen,(unknown),Julia Rankin,Michèle Mathieu‐Dramard,G Morin,Dominique Martin‐Coignard,Christèle Dubourg,B. Chabrol,(unknown),Fabienne Giuliano,(unknown),Nicole Philip,Pierre Sarda,Laurent Villard,Michel Goossens,Anne Moncla	45
16	Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein 2008 ·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	143
17	Phenotypic variability of a 4q34 → qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother 2006 ·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	27
18	Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly 2004 ·Journal of Biological Chemistry ·Élisabeth Traiffort,Christèle Dubourg,Hélène Faure,Didier Rognan,Sylvie Odent,(unknown),Véronique David,Martial Ruat	60
19	Phenotypic and molecular variability of the holoprosencephalic spectrum 2004 ·American Journal of Medical Genetics Part A ·Leïla Lazaro,Christèle Dubourg,Laurent Pasquier,Franck Le Duff,Martine Blayau,(unknown),(unknown),(unknown),Véronique David,Sylvie Odent	53
20	Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases 2000 ·Cytogenetic and Genome Research ·(unknown),(unknown),Bertrand Toutain,Christèle Dubourg,J. Y. Le Gall,Véronique David,André Le Treut	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) and Cleft Lip and Palate Research (8 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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