Mathieu Quinodoz

4.6k citations

40 papers · 622 · h-index 15

Impact in

Genetics top 10%
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
Molecular Biology
- Retinal Development and Disorders
- Single-cell and spatial transcriptomics
- RNA modifications and cancer
- Mitochondrial Function and Pathology

Papers in

Molecular Biology 32
- Retinal Development and Disorders 17
- RNA regulation and disease 6
- RNA and protein synthesis mechanisms 4
- CRISPR and Genetic Engineering 3
Genetics 16
- Genomics and Rare Diseases 8
- Genetics and Neurodevelopmental Disorders 5
- Genomic variations and chromosomal abnormalities 4

Co-authors: Carlo Rivolta (36 shared papers)Andrea Superti‐Furga (15 shared papers)Virginie G. Peter (13 shared papers)Katarina Cisarova (5 shared papers)Béryl Royer‐Bertrand (3 shared papers)Silvio Alessandro Di Gioia (2 shared papers)Luísa Coutinho Santos (5 shared papers)Ana Berta Sousa (4 shared papers)
Journals: The American Journal of Human Genetics (4 papers)Scientific Reports (3 papers)Genes (3 papers)Ophthalmic Research (3 papers)Human Molecular Genetics (2 papers)
Partner nations: Switzerland United Kingdom United States

In The Last Decade

Mathieu Quinodoz

36 papers receiving 614 citations

Peers

Countries citing papers authored by Mathieu Quinodoz

Since Specialization

Citations

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

Fields of papers citing papers by Mathieu Quinodoz

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

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

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 40 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data Nature Communications ·Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luísa Coutinho Santos, Andrea Superti‐Furga, Carlo Rivolta	2021	85
2	DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders The American Journal of Human Genetics ·Mathieu Quinodoz, Béryl Royer‐Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia, Andrea Superti‐Furga, Carlo Rivolta	2017	66
3	Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis EBioMedicine ·Giulia Fregni, Mathieu Quinodoz, Emely Möller, Joanna Vuille, Sabine Galland, Carlo Fusco, Patricia Martin, Igor Letovanec, Paolo Provero, Carlo Rivolta, Nicolò Riggi, Ivan Stamenkovic	2018	61
4	Fast and highly sensitive full-length single-cell RNA sequencing using FLASH-seq Nature Biotechnology ·Vincent Hahaut, Dinko Pavlinić, Walter Carbone, Sven Schuierer, Pierre Balmer, Mathieu Quinodoz, Magdalena Renner, Guglielmo Roma, Cameron S. Cowan, Simone Picelli	2022	53
5	Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity The American Journal of Human Genetics ·Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Béryl Royer‐Bertrand, Peter D. Stenson, D.N. Cooper, Sheila Unger, Andrea Superti‐Furga, Carlo Rivolta	2022	49
6	The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene Genetics in Medicine ·Virginie G. Peter, Mathieu Quinodoz, Jorge Pinto‐Basto, Sérgio B. Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C. Engle, Sheila Unger, Frederic Shapiro, Andrea Superti‐Furga, Carlo Rivolta, Belinda Campos‐Xavier	2019	35
7	Characteristic bimodal profiles of RNA polymerase II at thousands of active mammalian promoters Genome biology ·Mathieu Quinodoz, Cédric Gobet, Félix Naef, Kyle Gustafson	2014	28
8	New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV Human Mutation ·Virginie G. Peter, Mathieu Quinodoz, Silvia Sadio, Sebastian Held, Márcia Rodrigues, Marta Soares, Ana Berta Sousa, Luísa Coutinho Santos, Markus Daμμe, Carlo Rivolta	2020	25
9	CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels eLife ·André Brás Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, Sebastian Patzke, Pernille Martens, Signe Krogh Ohlsen, Mathieu Quinodoz, Konstantinos Nikopoulos, Reem Suleiman, Magnus Per Damsø Jeppesen, Catja Weiss, Søren T. Christensen, Carlo Rivolta, Jens Andersen, Pietro Farinelli, Lotte B. Pedersen	2021	23
10	Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice PLoS Genetics ·Abigail R. Moye, Nicola Bedoni, J Cunningham, Urikhan Sanzhaeva, Eric S. Tucker, Peter H. Mathers, Virginie G. Peter, Mathieu Quinodoz, Liliana P Paris, Luísa Coutinho Santos, Pedro Camacho, Madeleine G. Purcell, Abbie C. Winkelmann, James A. Foster, Elena N. Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy	2019	20
11	The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis PNAS Nexus ·Virginie G. Peter, Karolina Kamińska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta	2023	19
12	Herpes simplex encephalitis in adult patients with MASP-2 deficiency PLoS Pathogens ·Stéphanie Bibert, Jocelyne Piret, Mathieu Quinodoz, Emilie Collinet, Vincent Zoete, Olivier Michielin, Rafik Menasria, Pascal Meylan, Titus Bihl, Véronique Erard, Florence Fellmann, Carlo Rivolta, Guy Boivin, Pierre–Yves Bochud	2019	19
13	Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes Genes ·Galuh Astuti, L. van den Born, Muhammad Imran Khan, Christian Hamel, Béatrice Bocquet, Gaël Manès, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E. El‐Asrag, Lonneke Haer‐Wigman, Chris F. Inglehearn, Graeme C. Black, Carel C B Hoyng, Frans P.M. Cremers, Susanne Roosing	2018	19
14	Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4 Genes ·Atta Ur Rehman, Virginie G. Peter, Mathieu Quinodoz, Abdur Rashid, Syed Akhtar Khan, Andrea Superti‐Furga, Carlo Rivolta	2019	14
15	An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs Human Molecular Genetics ·Nicola Bedoni, Mathieu Quinodoz, Michele Pinelli, Gerarda Cappuccio, Annalaura Torella, Vincenzo Nigro, Francesco Testa, Francesca Simonelli, (unknown), Marta Cortón, Susanna Lualdi, Federica Lanza, Giovanni Morana, Carmen Ayuso, Maja Di Rocco, Mirella Filocamo, Sandro Banfi, Nicola Brunetti‐Pierri, Andrea Superti‐Furga, Carlo Rivolta	2020	14
16	Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature BMC Neurology ·Filipa Bastos, Mathieu Quinodoz, Marie‐Claude Addor, Béryl Royer‐Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti‐Furga, Eliane Roulet‐Perez, Sébastien Lebon	2020	13
17	NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases Human Genetics ·Irene Perea‐Romero, Fiona Blanco‐Kelly, Iker Sánchez‐Navarro, Isabel Lorda‐Sánchez, Saoud Tahsin Swafiri, (unknown), Inmaculada Martín-Mérida, María José Trujillo-Tiebas, Rosario López‐Rodríguez, Marta Rodríguez de Alba, Ionut-Florin Iancu, Raquel Escutia Romero, Mathieu Quinodoz, Håkon Håkonarson, Blanca Garcia-Sandova, Pablo Mínguez, Marta Cortón, Carlo Rivolta, Carmen Ayuso	2021	12
18	In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening Med ·Alexey Koval, Yonika Arum Larasati, Mikhail Savitsky, Gonzalo P. Solis, Jean‐Marc Good, Mathieu Quinodoz, Carlo Rivolta, Andrea Superti‐Furga, Vladimir L. Katanaev	2023	12
19	A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa Ophthalmic Genetics ·Virginie G. Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, Lotta Gränse, Pietro Farinelli, Andrea Superti‐Furga, Sten Andréasson, Carlo Rivolta	2019	12
20	Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies Scientific Reports ·Arash Salmaninejad, Nicola Bedoni, Zeinab Ravesh, Mathieu Quinodoz, Nasser Shoeibi, Majid Mojarrad, Alireza Pasdar, Carlo Rivolta	2020	7

About Mathieu Quinodoz

Mathieu Quinodoz is a scholar working on Molecular Biology, Genetics, Cell Biology, Ophthalmology and Immunology, having authored 40 papers that have together received 622 indexed citations. Recurring topics across this work include Retinal Development and Disorders (17 papers), Genomics and Rare Diseases (8 papers), RNA regulation and disease (6 papers), Genetics and Neurodevelopmental Disorders (5 papers), Retinal Diseases and Treatments (4 papers), Genomic variations and chromosomal abnormalities (4 papers), RNA and protein synthesis mechanisms (4 papers) and CRISPR and Genetic Engineering (3 papers). The work is most often cited by research in Genetics (220 citations), Molecular Biology (419 citations), Ophthalmology (51 citations), Cancer Research (75 citations) and Genetics (45 citations). Mathieu Quinodoz has collaborated with scholars based in Switzerland, United Kingdom and United States. Frequent co-authors include Carlo Rivolta, Andrea Superti‐Furga, Virginie G. Peter, Katarina Cisarova, Béryl Royer‐Bertrand, Silvio Alessandro Di Gioia, Luísa Coutinho Santos, Ana Berta Sousa, Sheila Unger and Nicola Bedoni. Their work appears in journals such as The American Journal of Human Genetics, Scientific Reports, Genes, Ophthalmic Research and Human Molecular Genetics.

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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Mathieu Quinodoz

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About Mathieu Quinodoz

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