Marlène Rio

10.4k citations

112 papers · 3.5k · h-index 33

Impact in

Clinical Biochemistry top 0.5%
- Metabolism and Genetic Disorders
Genetics top 1%
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases

Papers in

Molecular Biology 71
- Mitochondrial Function and Pathology 33
- ATP Synthase and ATPases Research 10
- RNA modifications and cancer 9
- Congenital heart defects research 7
Genetics 61
- Genetics and Neurodevelopmental Disorders 28
- Genomic variations and chromosomal abnormalities 23
- Genomics and Rare Diseases 16

Co-authors: Arnold Münnich (47 shared papers)Nathalie Boddaert (37 shared papers)Laurence Colleaux (22 shared papers)Agnès Rötig (25 shared papers)Nadia Bahi‐Buisson (15 shared papers)Stanislas Lyonnet (16 shared papers)Jeanne Amiel (15 shared papers)Perrine Plouin (4 shared papers)
Journals: Journal of Medical Genetics (11 papers)European Journal of Human Genetics (10 papers)The American Journal of Human Genetics (8 papers)European Journal of Medical Genetics (5 papers)Clinical Genetics (5 papers)
Partner nations: France United States Netherlands

In The Last Decade

Marlène Rio

106 papers receiving 3.4k citations

Peers

Countries citing papers authored by Marlène Rio

Since Specialization

Citations

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

Fields of papers citing papers by Marlène Rio

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Marlène Rio, 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 Marlène Rio Line = papers co-authored together Marlène Rio 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 112 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction The American Journal of Human Genetics ·Jeanne Amiel, Marlène Rio, Loïc de Pontual, Richard Redon, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P. Carter, Stanislas Lyonnet, Arnold Münnich, Laurence Colleaux	2007	212
2	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	2008	209
3	Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men* Human Reproduction ·Jean Gekas, F. Thépot, C Turleau, JP Siffroi, J. P. Dadoune, Sylvain Briault, Marlène Rio, G Bourouillou, F. Carré‐Pigeon, Richard Wasels, Brigitte Benzacken	2001	172
4	NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation Cell ·Xavier Lahaye, Matteo Gentili, Aymeric Silvin, Cécile Conrad, Léa Picard, Mabel Jouve, Elina Zueva, Mathieu Maurin, Francesca Nadalin, Gavin J. Knott, Baoyu Zhao, Fenglei Du, Marlène Rio, Jeanne Amiel, Archa H. Fox, Pingwei Li, Lucie Etienne, Charles S. Bond, Laurence Colleaux, Nicolas Manel	2018	167
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	2008	139
6	Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation Science ·Florence Molinari, Marlène Rio, Virginia Meskenaïte, Férechté Encha-Razavi, Joëlle Augé, Delphine Bacq, Sylvain Briault, Michel Vekemans, Arnold Münnich, Tania Attié‐Bitach, P. Sonderegger, Laurence Colleaux	2002	138
7	Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy The American Journal of Human Genetics ·Florence Molinari, Annick Raas‐Rothschild, Marlène Rio, Giuseppe Fiermonte, Férechté Encha‐Razavi, Luigi Palmieri, Ferdinando Palmieri, Ziva Ben‐Neriah, Noman Kadhom, Michel Vekemans, Tania Attié‐Bitach, Arnold Münnich, Pierre Rustin, Laurence Colleaux	2005	115
8	Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy Human Mutation ·Louise Galmiche, Valérie Serre, Marine Beinat, Zahra Assouline, Anne-Sophie Lèbre, Dominique Chrétien, Patrick Nietschke, Vladimı́r Beneš, Nathalie Boddaert, Daniel Sidi, Françis Brunelle, Marlène Rio, Arnold Münnich, Agnès Rötig	2011	110
9	MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression Science ·Satoru Hashimoto, Sarah Boissel, Mohammed Zarhrate, Marlène Rio, Arnold Münnich, Jean‐Marc Egly, Laurence Colleaux	2011	98
10	Natural history of Barth syndrome: a national cohort study of 22 patients Orphanet Journal of Rare Diseases ·Charlotte Rigaud, Anne-Sophie Lèbre, Renaud Touraine, Blandine Beaupain, Chris Ottolenghi, A. Chabli, Hélène Ansquer, (unknown), Sylvie Di Filippo, Pascale de Lonlay, Betina Borm, François Rivier, Marie-Catherine Vaillant, Michèle Mathieu‐Dramard, Alice Goldenberg, Géraldine Viot, Philippe Charron, Marlène Rio, Damien Bonnet, Jean Donadieu	2013	97
11	Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome The American Journal of Human Genetics ·Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Münnich, Christine Gicquel, Valérie Cormier‐Daire, Laurence Colleaux	2004	88
12	Spectrum of NSD1 mutations in Sotos and Weaver syndromes Journal of Medical Genetics ·Marlène Rio, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown)	2003	88
13	AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation Molecular Therapy — Nucleic Acids ·Xavier Gérard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlène Rio, Arnold Münnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean‐Michel Rozet	2012	82
14	Epileptic phenotypes in children with respiratory chain disorders Epilepsia ·Sandra Sabbagh, Anne-Sophie Lèbre, Nadia Bahi‐Buisson, Pascale Delonlay, Christine Soufflet, Nathalie Boddaert, Marlène Rio, Agnès Rötig, Olivier Dulac, Arnold Münnich, Isabelle Desguerre	2010	77
15	Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation The American Journal of Human Genetics ·Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bôle‐Feysot, Patrick Nitschké, Asma Smahi, Arnold Münnich, Laurence Colleaux	2009	73
16	TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy The American Journal of Human Genetics ·Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet	2009	70
17	Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy Journal of Medical Genetics ·Metodi D. Metodiev, S. Gerber, Laurence Hubert, Agnès Delahodde, Dominique Chrétien, Xavier Gérard, Patrizia Amati‐Bonneau, Marie-Christine Giacomotto, Nathalie Boddaert, Anna Kamińska, Isabelle Desguerre, Jeanne Amiel, Marlène Rio, Josseline Kaplan, Arnold Münnich, Agnès Rötig, Jean‐Michel Rozet, Claude Besmond	2014	70
18	Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant Neurogenetics ·Nadia Bahi‐Buisson, Juliette Nectoux, Benôıt Girard, Hilde Van Esch, Thomy de Ravel, Nathalie Boddaert, Perrine Plouin, Marlène Rio, Yann Fichou, Jamel Chelly, Thierry Bienvenu	2009	57
19	Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth Human Molecular Genetics ·Lionel Van Maldergem, Qingming Hou, Vera M. Kalscheuer, Marlène Rio, Martine Doco‐Fenzy, Ana Medeira, Arjan P.M. de Brouwer, Christelle Cabrol, Stefan A. Haas, Pierre Cacciagli, Sébastien Moutton, Emilie Landais, Jacques Motté, Laurence Colleaux, Céline Bonnet, Laurent Villard, Juliette Dupont, Heng‐Ye Man	2013	55
20	Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation Journal of Medical Genetics ·Marlène Rio, Florence Molinari, S. Heuertz, Catherine Ozilou, Philippe Gosset, O Raoul, Valérie Cormier‐Daire, Aliza Amiel, Stanislas Lyonnet, L Le Merrer, C Turleau, Marie‐Christine de Blois, M Prieur, Serge Romana, Michel Vekemans, Arnold Münnich, Laurence Colleaux	2002	54

About Marlène Rio

Marlène Rio is a scholar working on Molecular Biology, Genetics, Clinical Biochemistry, Pediatrics, Perinatology and Child Health and Surgery, having authored 112 papers that have together received 3.5k indexed citations. Recurring topics across this work include Mitochondrial Function and Pathology (33 papers), Genetics and Neurodevelopmental Disorders (28 papers), Genomic variations and chromosomal abnormalities (23 papers), Metabolism and Genetic Disorders (19 papers), Genomics and Rare Diseases (16 papers), ATP Synthase and ATPases Research (10 papers), RNA modifications and cancer (9 papers) and Congenital heart defects research (7 papers). The work is most often cited by research in Clinical Biochemistry (525 citations), Genetics (1.7k citations), Molecular Biology (2.2k citations), Developmental Neuroscience (69 citations) and Pediatrics, Perinatology and Child Health (263 citations). Marlène Rio has collaborated with scholars based in France, United States and Netherlands. Frequent co-authors include Arnold Münnich, Nathalie Boddaert, Laurence Colleaux, Agnès Rötig, Nadia Bahi‐Buisson, Stanislas Lyonnet, Jeanne Amiel, Perrine Plouin, Valérie Cormier‐Daire and Isabelle Desguerre. Their work appears in journals such as Journal of Medical Genetics, European Journal of Human Genetics, The American Journal of Human Genetics, European Journal of Medical Genetics and Clinical 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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