Christophe Philippe

6.3k citations

77 papers · 2.7k indexed · 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 50
- Genetics and Neurodevelopmental Disorders 33
- Genomic variations and chromosomal abnormalities 20
- Genomics and Rare Diseases 11
Molecular Biology 44
- RNA modifications and cancer 8
- Epigenetics and DNA Methylation 5
- Congenital heart defects research 4

Co-authors: Philippe Jonveaux Violaine Bourdon Cécile Arnould M. J. Grégoire Ruud Berger Thierry Bienvenu S Gilgenkrantz Céline Bonnet
Journals: European Journal of Human Genetics (6 papers)Prenatal Diagnosis (5 papers)Clinical Genetics (4 papers)European Journal of Medical Genetics (3 papers)The American Journal of Human Genetics (3 papers)
Partner nations: France United States United Kingdom

In The Last Decade

Christophe Philippe

75 papers receiving 2.6k citations

Peers

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-authorship network

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

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20 of 20 papers shown

#	Work
1	Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay American Journal of Medical Genetics Part A ·Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Ruifang Guo, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul B. Vrana, Julie M. Theoret, A. Micheil Innes, Christopher Andrews, Rebecca C. Ahrens‐Nicklas, Elizabeth Bhoj, Ольга Андреевна Ряполова, Bimal P. Chaudhari, T.F. Garth	2025	1
2	Exploring the Cognitive and Behavioral Aspects of Shprintzen‐Goldberg Syndrome; a Novel Cohort and Literature Review Clinical Genetics ·Elisabeth Stoltz Sjöström, Ange‐Line Bruel, Christophe Philippe, Julian Delanne, Laurence Faivre, Leonie A. Menke, Ping Yee Billie Au, 김태성미래기술전략연구팀, Shahida Moosa, Allan Bayat	2024	0
3	Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not? Prenatal Diagnosis ·Ю В Королева, Julian Delanne, G. Gorincour, Laurence Faivre, Hui Duan, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Thierry Rousseau, Jorge Duarte Loera, Pilar CAF, Syed Mathar Hussain Kazmi, Christel Thauvin‐Robinet, Frédéric Tran Mau‐Them	2024	1
4	Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome American Journal of Medical Genetics Part A ·M. N. Kuzina, Céline Bonnet, Luis H. Ries, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Δημήτριος Τσουμπλέκης, R Koskas, François Feillet, Emmanuelle Schmitt, Margarita Tejeda Fernández, 禎夫近藤, Alinna Y. Ruiz Garcia, Christophe Némos, Christophe Philippe, Laëtitia Lambert	2024	1
5	Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency Disease Models & Mechanisms ·Roberto Oleari, Antonella Lettieri, Stefano Manzini, Jia Wu, Valentina Andrè, Thallyta Midiã Mota de GOIS, Marco Busnelli, مكي محيي الكلابي, Antonio Vitobello, Christophe Philippe, Niklas Wohlwend, Helen L. Storr, Etienne Feutren, Fani Memi, Valeria Vezzoli, Valentina Massa, Peter Scheiffele, Sasha Howard, Anna Cariboni	2023	8
6	Expanding the phenotype of HNRNPU‐related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature American Journal of Medical Genetics Part A ·James R. Taylor, Marie-C�cile Vacher-Lavenu, D Manikanta, Antonio Vitobello, Christophe Philippe, Ange‐Line Bruel, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Marjolaine Willems, Bertrand Isidor, Kristen Park, Meena Balasubramanian	2022	12
7	Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D American Journal of Medical Genetics Part A ·Lusi Wulandari, Aurore Garde, Sandrine Marlin, Asael Rosas-García, Sylvain Ernest, Sophie Nambot, Yannis Duffourd, 马阿丽, C. Duvillard, Siddharth Banka, Christophe Philippe, Christel Thauvin‐Robinet, Frédéric Tran Mau‐Them, Laurence Faivre	2022	3
8	A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort European Journal of Human Genetics ·P Disayavanish, Martin Chevarin, Antonio Vitobello, Gabriela Mendes Freitas Galete, Cyril Fournier, Alain Verloès, Émilie Tisserant, P. Vabres, P. Markey, Christophe Philippe, Anne‐Sophie Denommé‐Pichon, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Conleth Kelly, Mirko Cvijan, Jean‐Marc Costa, Detlef Trost, Christel Thauvin‐Robinet, Laurence Faivre, Yannis Duffourd	2022	6
9	Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients The Pharmacogenomics Journal ·Gabriela Mendes Freitas Galete, Quentin Thomas, P Disayavanish, Céline Verstuyft, Émilie Tisserant, Antonio Vitobello, Frédéric Tran Mau‐Them, Christophe Philippe, Marc Bardou, Maxime Luu, Abderrahmane Bourredjem, Patrick Callier, Christel Thauvin‐Robinet, Nicolas Picard, Laurence Faivre, Yannis Duffourd	2022	1
10	Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants American Journal of Medical Genetics Part A ·Daniel K. Bricker, Delphine Mallet, Florence Roucher‐Boulez, A.W. Scarfone, Marie Bournez, Ori Pomson, Eric Bibo Bergeron, Charlotte Pöe, 彰久須藤, Antonio Vitobello, Christophe Philippe, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre, Sophie Nambot	2022	2
11	Atypical phenotype of a patient with Bardet–Biedl syndrome type 4 Molecular Genetics & Genomic Medicine ·Nick Lennon-Barrett, Laëtitia Lambert, T. Jayashree, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Bruce A Nerad, Jean‐Louis Lemelle, Olivier Klein, Xiao Hua Song, 隆小田嶋, Rasool Abedanzadeh, Edison Otera, Céline Bonnet, Christophe Philippe, Bruno Leheup	2022	1
12	UQCRC2-related mitochondrial complex III deficiency, about 7 patients Mitochondrion ·Yoji Wakayama, Pauline Gaignard, Élise Lebigot, Didier Eyer, Geoffroy Delplancq, Adolph Ulfohn, K. Mazodier, MED Veiga, Cécile Rouzier, Konstantina Fragaki, Pierre Hellin, Christophe Philippe, Ange‐Line Bruel, Laurence Faivre, François Feillet, Johan Uijen	2022	7
13	Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases Molecular Genetics & Genomic Medicine ·Frédéric Tran Mau‐Them, Yannis Duffourd, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Julian Delanne, Sébastien Moutton, Arthur Sorlin, (unknown), T M Spurthi, Eric Bibo Bergeron, Martin Chevarin, Charlotte Pöe, Anne‐Laure Mosca‐Boidron, Patrick Callier, Conleth Kelly, Laurence Faivre, Christophe Philippe, Christel Thauvin‐Robinet	2021	4
14	Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway Ultrasound in Obstetrics and Gynecology ·Chan-Young Lee, Virginie Carmignac, Arthur Sorlin, Yannis Duffourd, Christophe Philippe, Christel Thauvin‐Robinet, Laurent Guibaud, Laurence Faivre, P. Vabres, Paul Kuentz, (unknown)	2021	7
15	Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes American Journal of Medical Genetics Part C Seminars in Medical Genetics ·Geoffroy Delplancq, Pilar CAF, Antonio Vitobello, Sophie Nambot, Arthur Sorlin, Christophe Philippe, Virginie Carmignac, Yannis Duffourd, Charlotte S. Denis, J.C. Eicher, Martin Chevarin, Gilles Millat, Roland L. Sullivan, Thierry Rousseau, Sylvie Falcon‐Eicher, Alexandre Vasiljevic, Rodrigo Bittencourt Da Silva, Christel Thauvin‐Robinet, Laurence Faivre, Paul Kuentz	2020	15
16	Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability Clinical Genetics ·Ange‐Line Bruel, Antonio Vitobello, Frédéric Tran Mau‐Them, Sophie Nambot, Arthur Sorlin, Anne‐Sophie Denommé‐Pichon, Julian Delanne, Sébastien Moutton, Patrick Callier, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin‐Robinet	2020	11
17	Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light Human Mutation ·P Disayavanish, Céline Bris, Vincent Procaccio, Patrizia Amati‐Bonneau, P. Vabres, Nada Houcinat, Émilie Tisserant, François Feillet, Ange‐Line Bruel, Logan Frank, Christophe Philippe, Arthur Sorlin, Frédéric Tran Mau‐Them, Antonio Vitobello, Jean‐Marc Costa, Mirko Cvijan, Detlef Trost, Laurence Faivre, Christel Thauvin‐Robinet, Hao Sun	2019	7
18	Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features Clinical Genetics ·Sébastien Moutton, Ange‐Line Bruel, Mirna Assoum, Martin Chevarin, Elisabeth Sarrazin, Cyril Goizet, a Daryani, Aude Charollais, Perrine Charles, D. Héron, Anne Faudet, Nada Houcinat, Antonio Vitobello, (unknown), Christophe Philippe, Yannis Duffourd, 刘城语, Laurence Faivre	2018	17
19	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, P. Giannelli, Michael Harbord, Christophe Némos, Daphne Houiller, H. Hofman, Adeline Vigouroux, Philippe Jonveaux, Christophe Philippe	2012	50
20	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, 芳人斉藤, Laurent Pasquier, Gaëtan Lesca, Julien Mancini, Philippe Jonveaux, A. Moncla, Jamel Chelly, Thierry Bienvenu	2005	57

About Christophe Philippe

Christophe Philippe is a scholar working on Genetics, Molecular Biology, Genetics, Developmental Biology and Clinical Biochemistry, having authored 77 papers that have together received 2.7k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (33 papers), Genomic variations and chromosomal abnormalities (20 papers), Genomics and Rare Diseases (11 papers), Autism Spectrum Disorder Research (8 papers), RNA modifications and cancer (8 papers), Prenatal Screening and Diagnostics (6 papers), Epigenetics and DNA Methylation (5 papers) and Congenital heart defects research (4 papers). The work is most often cited by research in Genetics (1.6k citations), Hematology (285 citations), Molecular Biology (1.5k citations), Genetics (180 citations) and Cognitive Neuroscience (309 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, M. J. Grégoire, Ruud Berger, 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 The American Journal of Human Genetics.

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