Christophe Philippe

6.4k citations
76 papers · 2.7k · h-index 30

Impact in

  • Genetics top 1%
    • Genetics and Neurodevelopmental Disorders
    • Genomic variations and chromosomal abnormalities
    • Genomics and Rare Diseases
  • Hematology top 5%
    • Acute Myeloid Leukemia Research

Papers in

  • Genetics 47
    • Genetics and Neurodevelopmental Disorders 31
    • Genomic variations and chromosomal abnormalities 17
    • Genomics and Rare Diseases 11
  • Molecular Biology 37
    • RNA modifications and cancer 8
    • Congenital heart defects research 4
    • RNA Research and Splicing 4
Co-authors
Philippe Jonveaux (30 shared papers)Violaine Bourdon (5 shared papers)Cécile Arnould (2 shared papers)Ruud Berger (1 shared paper)M. J. Grégoire (1 shared paper)Thierry Bienvenu (5 shared papers)S Gilgenkrantz (6 shared papers)Céline Bonnet (10 shared papers)
Journals
European Journal of Human Genetics (6 papers)Prenatal Diagnosis (5 papers)Clinical Genetics (4 papers)European Journal of Medical Genetics (3 papers)Human Mutation (3 papers)
Partner nations
FranceUnited StatesUnited Kingdom

In The Last Decade

Christophe Philippe

74 papers receiving 2.6k citations

Peers

Christophe Philippe
Comparison fields: 5 of 91
  • Genetics 1.4k
  • Hematology 278
  • Molecular Biology 1.4k
  • Genetics 159
  • Cognitive Neuroscience 252
Replace Susan Moore with:
Susan Moore United Kingdom
Joris Andrieux France
Francesca Mari Italy
Benoı̂t Arveiler France
Patrick Calvas France
Marcia L. Budarf United States
Alfredo Brusco Italy
Francisco Martı́nez Spain
Francesca Ariani Italy
Annick Raas‐Rothschild Israel
Christophe Philippe relative to Susan Moore United Kingdom Susan Moore's profile →
Citations per field
00.5×2×4×6×7×
Susan Moore · 1×
Citations per year

Countries citing papers authored by Christophe Philippe

Since Specialization
Citations

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

Fields of papers citing papers by Christophe Philippe

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Christophe Philippe, 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 Christophe Philippe Line = papers co-authored together Christophe Philippe links everyone, so they are left out of the graph.

All Works

20 of 20 papers shown

Showing the 20 most-cited of 76 papers — load more, or switch the sort, to bring in the rest.

#Work
1
Key clinical features to identify girls with CDKL5 mutations
Brain ·Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas, Mathieu Milh, Nathalie Boddaert, Benôıt Girard, Claude Cancès, Dorothée Ville, Alexandra Afenjar, Marlène Rio, Delphine Héron, Marie Ange N'Guyen Morel, Alexis Arzimanoglou, Christophe Philippe, Philippe Jonveaux, Jamel Chelly, Thierry Bienvenu
2008209
2
A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility
The American Journal of Human Genetics ·Silvia Bione, Cinzia Sala, M. Chiara Manzini, Giulia Arrigo, Orsetta Zuffardi, Sandro Banfi, Giuseppe Borsani, Philippe Jonveaux, Christophe Philippe, Maurizio Zuccotti, Andrea Ballabio, Daniela Toniolo
1998193
3
The Signal Transducer and Activator of Transcription STAT5b Gene Is a New Partner of Retinoic Acid Receptor   in Acute Promyelocytic-Like Leukaemia
Human Molecular Genetics ·Cécile Arnould, Christophe Philippe, Violaine Bourdon, M. J. Grégoire, Ruud Berger, Philippe Jonveaux
1999186
4
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy
Human Mutation ·Christophe Béroud, Sylvie Tuffery‐Giraud, Masafumi Matsuo, Dalil Hamroun, Véronique Humbertclaude, Nicole Monnier, Marie‐Pierre Moizard, Marie‐Antoinette Voelckel, Laurence Michel Calemard, Pierre Boisseau, Martine Blayau, Christophe Philippe, Mireille Cossée, Michel Pagès, François Rivier, Olivier Danos, Luis Garcı́a, Mireille Claustres
2006155
5
The three stages of epilepsy in patients with CDKL5 mutations
Epilepsia ·Nadia Bahi‐Buisson, Anna Kamińska, Nathalie Boddaert, Marlène Rio, Alexandra Afenjar, Marion Gérard, Fabienne Giuliano, Jacques Motté, Delphine Héron, Marie Ange N'Guyen Morel, Perrine Plouin, Christian Richelme, Vincent des Portes, Olivier Dulac, Christophe Philippe, Catherine Chiron, Rima Nabbout, Thierry Bienvenu
2008141
6
Cloning and characterization of the human choroideremia gene
Human Molecular Genetics ·Hans van Bokhoven, José A. J. M. van den Hurk, Liesbeth Bogerd, Christophe Philippe, S Gilgenkrantz, Pieter de Jong, Hans‐Hilger Ropers, Frans P.M. Cremers
1994132
7
Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses
The American Journal of Human Genetics ·Christophe Philippe, Daniel Porter, Mark Emerton, Dan E. Wells, A. Hamish, R. W. Simpson, Anthony P. Monaco
1997102
8
Mutational spectrum of CDKL5 in early‐onset encephalopathies: a study of a large collection of French patients and review of the literature
Clinical Genetics ·Christophe Némos, Laëtitia Lambert, Fabienne Giuliano, Bérénice Doray, A. Roubertie, Alice Goldenberg, B Delobel, Valérie Layet, M Ange N'guyen, Aline Saunier, F. Verneau, Philippe Jonveaux, Christophe Philippe
200984
9
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
Journal of Medical Genetics ·Jean‐Benoît Courcet, Laurence Faivre, Perrine Malzac, Alice Masurel‐Paulet, Estelle Lopez, Patrick Callier, Laëtitia Lambert, M. Lemesle, Julien Thévenon, Nadège Gigot, Laurence Duplomb, Clémence Ragon, Nathalie Marle, Anne‐Laure Mosca‐Boidron, Frédéric Huet, Christophe Philippe, Anne Moncla, Christel Thauvin‐Robinet
201281
10
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders
Orphanet Journal of Rare Diseases ·Véronique Latger‐Cannard, Christophe Philippe, Alexandre Bouquet, Véronique Baccini, Marie‐Christine Alessi, Annick Ankri, Anne Bauters, Sophie Bayart, Pascale Cornillet‐Lefèbvre, Sylvie Daliphard, Julien Mozziconacci, Aline Renneville, Paola Ballerini, Guy Leverger, Hagay Sobol, Philippe Jonveaux, Claude Preudhomme, Paquita Nurden, Thomas Lecompte, Rémi Favier
201675
11
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions
European Journal of Human Genetics ·Mylène Béri‐Dexheimer, Véronique Latger‐Cannard, Christophe Philippe, Céline Bonnet, Pascal Chambon, Virginie Roth, Marie‐José Gregoire, Pierre Bordigoni, Thomas Lecompte, Bruno Leheup, Philippe Jonveaux
200872
12
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females
Journal of Medical Genetics ·Christophe Philippe, Daniel Amsallem, Christine Francannet, Laëtitia Lambert, Aline Saunier, F. Verneau, Philippe Jonveaux
200964
13
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
Human Genetics ·Violaine Bourdon, Christophe Philippe, Orianne Labrune, Daniel Amsallem, (unknown), Philippe Jonveaux
200163
14
A retrospective study by oligonucleotide array‐CGH analysis in 50 fetuses with multiple malformations
Prenatal Diagnosis ·Mylène Valduga, Christophe Philippe, P. Bach Segura, O. Thiébaugeorges, A. Miton, Mylène Béri, Céline Bonnet, Christophe Némos, B. Foliguet, Philippe Jonveaux
201057
15
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update
European Journal of Medical Genetics ·Christophe Philippe, Laurent Villard, Nicolás de Roux, Martine Raynaud, Jean Paul Bonnefond, Laurent Pasquier, Gaëtan Lesca, Julien Mancini, Philippe Jonveaux, A. Moncla, Jamel Chelly, Thierry Bienvenu
200557
16
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements
European Journal of Human Genetics ·Lila Allou, Laëtitia Lambert, Daniel Amsallem, Éric Bieth, Patrick Edery, Anne Destrèe, François Rivier, David J. Amor, Elizabeth Thompson, Julian Nicholl, Michael Harbord, Christophe Némos, Aline Saunier, Aissa Moustaïne, Adeline Vigouroux, Philippe Jonveaux, Christophe Philippe
201250
17
BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: evidence for multistep carcinogenesis
Pathology ·Guillaume Gauchotte, Christophe Philippe, Stéphanie Lacomme, B. Léotard, Marie-Pierre Wissler, Lila Allou, B. Toussaint, Marc Klein, Jean-Michel Vignaud, Aude Bressenot
201149
18
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients
The EMBO Journal ·Michele Bertacchi, Anna Lisa Romano, Agnès Loubat, Frédéric Tran Mau‐Them, Marjolaine Willems, Laurence Faivre, Philippe Khau Van Kien, Laurence Perrin, Françoise Devillard, Arthur Sorlin, Paul Kuentz, Christophe Philippe, Aurore Garde, Francesco Neri, Rossella Di Giaimo, Salvatore Oliviero, (unknown), Ludovico D’Incerti, Carolina Frassoni, Michèle Studer
202043
19
The Incidence of Rett Syndrome in France
Pediatric Neurology ·Thierry Bienvenu, Christophe Philippe, Nicolás de Roux, Martine Raynaud, Jean Paul Bonnefond, Laurent Pasquier, Gaëtan Lesca, Josette Mancini, Philippe Jonveaux, Anne Moncla, Josué Feingold, Jamel Chelly, Laurent Villard
200641
20
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
European Journal of Human Genetics ·Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thévenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean‐Marçais, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Martin Chevarin, Thibaud Jouan, Charlotte Pöe, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau‐Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin‐Robinet
201939

About Christophe Philippe

Christophe Philippe is a scholar working on Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Genetics and Cognitive Neuroscience, having authored 76 papers that have together received 2.7k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (31 papers), Genomic variations and chromosomal abnormalities (17 papers), Genomics and Rare Diseases (11 papers), RNA modifications and cancer (8 papers), Autism Spectrum Disorder Research (6 papers), Prenatal Screening and Diagnostics (6 papers), Congenital heart defects research (4 papers) and RNA Research and Splicing (4 papers). The work is most often cited by research in Genetics (1.4k citations), Hematology (278 citations), Molecular Biology (1.4k citations), Genetics (159 citations) and Cognitive Neuroscience (252 citations). Christophe Philippe has collaborated with scholars based in France, United States and United Kingdom. Frequent co-authors include Philippe Jonveaux, Violaine Bourdon, Cécile Arnould, Ruud Berger, M. J. Grégoire, Thierry Bienvenu, S Gilgenkrantz, Céline Bonnet, Laëtitia Lambert and Daniel Amsallem. Their work appears in journals such as European Journal of Human Genetics, Prenatal Diagnosis, Clinical Genetics, European Journal of Medical Genetics and Human Mutation.

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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