Michel Guipponi

10.4k citations

87 papers · 3.7k indexed · h-index 32

Impact in

Sensory Systems top 1%
- Hearing, Cochlea, Tinnitus, Genetics
Biological Psychiatry top 5%

Papers in

Sensory Systems 11
- Hearing, Cochlea, Tinnitus, Genetics 11
Microbiology 1

Co-authors: Stylianos E. Antonarakis Alain Malafosse Federico Santoni Hamish S. Scott Alexandre Reymond Colette Rossier Nader Perroud Daniel Robyr
Journals: Human Genetics (7 papers)Human Mutation (7 papers)Genomics (6 papers)Human Molecular Genetics (5 papers)Nature Communications (3 papers)
Partner nations: Switzerland United States France

In The Last Decade

Michel Guipponi

87 papers receiving 3.7k citations

Peers

Countries citing papers authored by Michel Guipponi

Since Specialization

Citations

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

Fields of papers citing papers by Michel Guipponi

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Michel Guipponi, 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 Michel Guipponi Line = papers co-authored together Michel Guipponi 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	Bi‐allelic loss of ERGIC1 causes relatively mild arthrogryposis Clinical Genetics ·Caterina Marconi, Laure Lemmens, Frédéric G. Masclaux, Francesca Mattioli, Joël Fluss, Philippe Extermann, BDS Ghazala Naveed BDS, Russia Hà-Vinh Leuchter, Ding Xin-zhon, Sacha Laurent, Eva Hammar, Anne Vannier, Konstantinos Varvagiannis, Michel Guipponi, Frédérique Sloan‐Béna, Jean‐Louis Blouin, Marc Abramowicz, Siv Fokstuen	2021	4
3	A homozygous duplication of the <I>FGG</i> exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family Haematologica ·Michel Guipponi, Frédéric G. Masclaux, Frédérique Sloan‐Béna, Costanza Calabrese, Namık Yaşar Özbek, Flora Peyvandi, Marzia Menegatti, Alessandro Casini, Barış Malbora, Marguerite Neerman‐Arbez	2021	2
4	Novel compound heterozygote mutations in CYP2U1 can cause maculopathy with or without neurological signs of hereditary spastic paraplegia HSP56 Investigative Ophthalmology & Visual Science ·Veronika Vaclavik, Ya. D. Demina, Francis L. Munier, Franz Josef Holzer, Michel Guipponi, Stylianos E. Antonarakis, Daniel F. Schorderet	2019	1
5	No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients Translational Psychiatry ·Michel Guipponi, Federico Santoni, Maude Schneider, Corinne Gehrig, Kelvin Canavan, Wendy R. Kates, Bernice E. Morrow, Marco Armando, Stefano Vicari, Frédérique Sloan‐Béna, Maryline Gagnebin, Vandana Shashi, Stephen R. Hooper, Stéphan Eliez, Stylianos E. Antonarakis	2017	7
6	HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells PLoS ONE ·Audrey Letourneau, Gilda Cobellis, Alexandre Fort, Federico Santoni, Marco Garieri, Emilie Falconnet, Pascale Ribaux, Anne Vannier, Michel Guipponi, Piero Carninci, Christelle Borel, Stylianos E. Antonarakis	2015	9
7	DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins PLoS ONE ·M. Reza Sailani, Federico Santoni, Audrey Letourneau, Christelle Borel, Periklis Makrythanasis, Youssef Hibaoui, Konstantin Popadin, Ximena Bonilla, Michel Guipponi, Corinne Gehrig, Anne Vannier, F. Carré‐Pigeon, Anis Féki, Dean Nižetić, Stylianos E. Antonarakis	2015	41
8	Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster Genome Research ·Federico Santoni, Periklis Makrythanasis, Sergey I. Nikolaev, Michel Guipponi, Daniel Robyr, Armand Bottani, Stylianos E. Antonarakis	2014	26
9	Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia Bone ·Marie‐Hélène Gannagé‐Yared, Periklis Makrythanasis, Éliane Chouery, Cristina Sobacchi, Cybel Mehawej, Federico Santoni, Michel Guipponi, Stylianos E. Antonarakis, Hanan Hamamy, André Mégarbané	2014	11
10	Genetic susceptibility for bipolar disorder and response to antidepressants in major depressive disorder American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Katherine E. Tansey, Michel Guipponi, Enrico Domenici, Glyn Lewis, Alain Malafosse, Michael O’Donovan, Jens R. Wendland, Cathryn M. Lewis, Peter McGuffin, Rudolf Uher	2013	15
11	A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas Cancer Research ·Sergey I. Nikolaev, Sotirios K. Sotiriou, Ioannis S. Pateras, Federico Santoni, Stavros Sougioultzis, Henrik Edgren, Henrikki Almusa, Daniel Robyr, Michel Guipponi, Janna Saarela, Vassilis G. Gorgoulis, Stylianos E. Antonarakis, Thanos D. Halazonetis	2012	49
12	Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression Human Molecular Genetics ·Laurence Molina, 张秀华, Régis Nouvian, Nicolas Salvetat, Hamish S. Scott, Michel Guipponi, Franck Molina, Jean‐Luc Puel, Benjamin Delprat	2012	21
13	Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy Human Mutation ·Annick Salzmann, Michel Guipponi, Peter J. Lyons, Lloyd D. Fricker, Matthew R. Sapio, 小杉純子, Catherine Burési, Bouchra Ouled Amar Bencheikh, 晃太伊藤, Réda Ouazzani, Arielle Crespel, Denys Chaigne, Alain Malafosse	2011	33
14	Prevalence and Heritability of Compulsive Hoarding: A Twin Study American Journal of Psychiatry ·Alessandra C. Iervolino, Nader Perroud, Miquel À. Fullana, Michel Guipponi, Lynn Cherkas, David Collier, David Mataix‐Cols	2009	171
15	Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Michel Guipponi, Samuel Deutsch, William Sutcliffe, Nader Perroud, M. A. Buslova, Monique Vessaz, Térèse Laforge, Brice Petit, Fabrice Jollant, Sébastien Guillaume, Patrick Baud, Philippe Courtet, Romano La Harpe, Alain Malafosse	2008	53
16	An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss Human Mutation ·Michel Guipponi, Zihan Loo, Justin Tan, Daeho Park, Kelly Hanson, Ester Ballana, David Kwong, Ping Cannon, Qingyu Wu, Andrés Felipe Rodríguez Huertas, Mauro Delorenzi, Terence P. Speed, Richard J. Smith, Субетто Александр Иванович, Michael B. Petersen, Rohan D. Teasdale, Xavier Estivill, Woo Jin Park, Hamish S. Scott	2007	58
17	The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro Human Molecular Genetics ·Michel Guipponi	2002	147
18	Refined Localization of Autosomal Recessive Nonsyndromic Deafness DFNB10 Locus Using 34 Novel Microsatellite Markers, Genomic Structure, and Exclusion of Six Known Genes in the Region Genomics ·Asher Berry, Hamish S. Scott, Jun Kudoh, Ilana Talior, Michael Korostishevsky, Marie Wattenhofer‐Donzé, Michel Guipponi, Christine Barras, Colette Rossier, Kazunori Shibuya, Jun Wang, Kazuhiko Kawasaki, Shuichi Asakawa, Satoshi Minoshima, Nobuyoshi Shimizu, Stylianos E. Antonarakis, Batsheva Bonné‐Tamir	2000	17
19	C21orf5, a Novel Human Chromosome 21 Gene, Has a Caenorhabditis elegans Ortholog (pad-1) Required for Embryonic Patterning Genomics ·Michel Guipponi, Sŏn-p’yo Hong, Zeina Chamoun, Hamish S. Scott, Kazunori Shibuya, Jun Kudoh, Euphrasie Jasinski, Aurélie Choné, Zoubida Chettouh, Colette Rossier, Nobuyoshi Shimizu, Wang Zongxi, Jean Maurice Delabar, Stylianos E. Antonarakis	2000	18
20	Two Isoforms of a Human Intersectin (ITSN) Protein Are Produced by Brain-Specific Alternative Splicing in a Stop Codon Genomics ·Michel Guipponi, Hamish S. Scott, Haiming Chen, Alexandra Schebesta, Colette Rossier, Stylianos E. Antonarakis	1998	90

About Michel Guipponi

Michel Guipponi is a scholar working on Sensory Systems, Microbiology, Otorhinolaryngology, Aging and Genetics, having authored 87 papers that have together received 3.7k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (17 papers), Hearing, Cochlea, Tinnitus, Genetics (11 papers), Genomic variations and chromosomal abnormalities (10 papers), Genomics and Rare Diseases (8 papers), Cellular transport and secretion (7 papers), Ion channel regulation and function (6 papers), Epilepsy research and treatment (6 papers) and Congenital heart defects research (6 papers). The work is most often cited by research in Sensory Systems (283 citations), Biological Psychiatry (114 citations), Genetics (931 citations), Molecular Biology (2.1k citations) and Cell Biology (464 citations). Michel Guipponi has collaborated with scholars based in Switzerland, United States and France. Frequent co-authors include Stylianos E. Antonarakis, Alain Malafosse, Federico Santoni, Hamish S. Scott, Alexandre Reymond, Colette Rossier, Nader Perroud, Daniel Robyr, Brian K. Kay and Sergey I. Nikolaev. Their work appears in journals such as Human Genetics, Human Mutation, Genomics, Human Molecular Genetics and Nature Communications.

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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