C. Ortez

3.0k citations

76 papers · 691 indexed · h-index 15

Impact in

Genetics top 10%
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
Cellular and Molecular Neuroscience top 10%
- Genetic Neurodegenerative Diseases

Papers in ⓘ

Molecular Biology 46
- Muscle Physiology and Disorders 25
- RNA Research and Splicing 10
- Mitochondrial Function and Pathology 7
Genetics 16
- Neurogenetic and Muscular Disorders Research 14
- Genetics and Neurodevelopmental Disorders 10

Co-authors: A. Nascimento (53 shared papers)Daniel Natera‐de Benito (39 shared papers)C. Jimenez‐Mallebrera (23 shared papers)P. Gallano (5 shared papers)Lidia González‐Quereda (5 shared papers)Cristina Jou (25 shared papers)Manel Baena (1 shared paper)Edgard Verdura (1 shared paper)
Journals: Neuromuscular Disorders (19 papers)International Journal of Molecular Sciences (4 papers)PLoS ONE (4 papers)Annals of Clinical and Translational Neurology (3 papers)European Journal of Paediatric Neurology (3 papers)
Partner nations: Spain United Kingdom Portugal

In The Last Decade

C. Ortez

63 papers receiving 682 citations

Peers

Countries citing papers authored by C. Ortez

Since Specialization

Citations

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

Fields of papers citing papers by C. Ortez

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside C. Ortez, 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 C. Ortez Line = papers co-authored together C. Ortez 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 76 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations PLoS ONE ·Jonàs Juan‐Mateu, Lidia González‐Quereda, Maria José Rodríguez, Manel Baena, Edgard Verdura, A. Nascimento, C. Ortez, Montserrat Baiget, P. Gallano	2015	109
2	Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome PLoS ONE ·Sofia Duarte, Judith Armstrong, Ana Roche, C. Ortez, Ana Paula da Silva Perez, María del Mar O’Callaghan, Antonina Pereira, Francesc Sanmartí, Aída Ormazábal, Rafael Artuch, Mercédes Pineda, Àngels García‐Cazorla	2013	63
3	Outbreak of brainstem encephalitis associated with enterovirus-A71 in Catalonia, Spain (2016): a clinical observational study in a children's reference centre in Catalonia Clinical Microbiology and Infection ·Dídac Casas‐Alba, Mariona Fernández de Sevilla, Ana Valero, Clàudia Fortuny, Juan José García‐García, C. Ortez, Jordi Muchart, Thaís Armangué, Iolanda Jordán, C. Luaces Cubells, Irene Barrabeig, Rubén González-Sanz, María Cabrerizo, Carmen Muñoz‐Almagro, Cristian Launes	2017	50
4	Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations Neuromuscular Disorders ·Daniel Natera‐de Benito, M Bestué, Juan J. Vílchez, Teresinha Evangelista, Ana Töpf, Ainhoa García-Ribes, M J Trujillo-Tiebas, M García-Hoyos, C. Ortez, Ana Camacho, Elisa Jiménez, Marina Dusl, Angela Abicht, Hanns Lochmüller, J. Colomer, A. Nascimento	2015	29
5	Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy Neuromuscular Disorders ·Monica Llano‐Diez, C. Ortez, Judit Armas Gay, Lidia Álvarez-Cabado, Cristina Jou, Julita Medina, A. Nascimento, C. Jimenez‐Mallebrera	2016	26
6	KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors Journal of Neurology ·Daniel Natera‐de Benito, A. Nascimento, Angela Abicht, C. Ortez, C. Jou, Juliane S. Müller, Teresinha Evangelista, Ana Töpf, Rachel Thompson, C. Jimenez‐Mallebrera, Jaume Colomer, Hanns Lochmüller	2016	25
7	Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement Neuromuscular Disorders ·Ana Fernández‐Marmiesse, M.C. Carrascosa-Romero, Blanca Alfaro Ponce, A. Nascimento, C. Ortez, Norma B. Romero, Lourdes Palacios, C. Jimenez‐Mallebrera, Cristina Jou, Sofía Gouveia, María L. Couce	2016	24
8	Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators PLoS ONE ·Sonia Paco, Teresa Casserras, Maria Angels Rodríguez, Cristina Jou, Montse Puigdelloses, C. Ortez, Jordi Díaz‐Manera, Eduard Gallardo, Jaume Colomer, A. Nascimento, Susana G. Kalko, C. Jimenez‐Mallebrera	2015	21
9	Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up Neuromuscular Disorders ·Daniel Natera‐de Benito, Jana Domínguez‐Carral, Nuria Muelas, A. Nascimento, C. Ortez, Teresa Jaijo, Rosa Arteaga, J. Colomer, Juan J. Vílchez	2016	17
10	Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Frontiers in Neurology ·Selena Trifunov, Daniel Natera‐de Benito, J. Expósito, C. Ortez, Julita Medina, Daniel Cuadras, Carmen Badosa, Laura Carrera‐García, A. Nascimento, C. Jimenez‐Mallebrera	2020	17
11	Hypotonic male infant and MCT8 deficiency - a diagnosis to think about BMC Pediatrics ·Filipa Rodrigues, Joana Grenha, C. Ortez, A. Nascimento, Beatriz Morte, Monica M-Belinchón, Judith Armstrong, J. Colomer	2014	16
12	Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II Neuromuscular Disorders ·A. Frongia, Daniel Natera‐de Benito, C. Ortez, M. Alarcón, Aina Borrás, J. Medina, M. Vigo, Nuria Padros, O. Moya, (unknown), Laura Carrera‐García, J. Expósito, Daniel Cuadras, Sara Bernal, Loreto Martorell, J. Colomer, A. Nascimento	2019	16
13	Síndrome de Guillain-Barré en edad pediátrica. Perfil epidemiológico, clínico y terapéutico en un hospital de El Salvador Revista de Neurología ·Mauricio Ramírez Zamora, Carlos Roberto Burgos Ganuza, David Antonio Alas Valle, Patricio Eduardo Vergara Galán, C. Ortez	2009	16
14	Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases Frontiers in Neuroscience ·Jordi Pijuan, Lara Cantarero, Daniel Natera‐de Benito, Arola Altimir, Anna Altisent-Huguet, Yaiza Díaz‐Osorio, Laura Carrera‐García, J. Expósito, C. Ortez, A. Nascimento, Janet Hoenicka, Francesc Palau	2022	16
15	CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts International Journal of Molecular Sciences ·Arístides López‐Márquez, Matías Morin, Sergio Fernández-Peñalver, Carmen Badosa, Alejandro Hernández-Delgado, Daniel Natera‐de Benito, C. Ortez, A. Nascimento, Daniel Grinberg, Susana Balcells, Mónica Roldán, Miguel A. Moreno‐Pelayo, C. Jimenez‐Mallebrera	2022	15
16	The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort Pediatric Neurology ·Daniel Natera‐de Benito, C. Ortez, Cristina Jou, C. Jimenez‐Mallebrera, Anna Codina, Laura Carrera‐García, J. Expósito, Sergi César, Loreto Martorell, P. Gallano, Lidia González‐Quereda, Daniel Cuadras, J. Colomer, Dèlia Yubero, Francesc Palau, A. Nascimento	2020	13
17	Hypokinetic-rigid syndrome in children and inborn errors of metabolism European Journal of Paediatric Neurology ·Àngels García‐Cazorla, C. Ortez, Belén Pérez‐Dueñas, Mercedes Serrano, Manuel Pineda, Josep M. Campistol, E Fernández-Álvarez	2011	13
18	Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events Journal of Medical Genetics ·Alba Segarra‐Casas, Cristina Domínguez‐González, Aurelio Hernández‐Laín, María Teresa Sánchez‐Calvín, Ana Camacho, Eloy Rivas, Andrea Campo-Barasoain, Marcos Madruga, C. Ortez, Daniel Natera‐de Benito, A. Nascimento, Anna Codina, María José Gómez-Rodríguez, P. Gallano, Lidia González‐Quereda	2022	12
19	Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets PLoS ONE ·Sonia Paco, Susana G. Kalko, Cristina Jou, Maria Angels Rodríguez, J. Corbera, Francesco Muntoni, Lucy Feng, Eloy Rivas, Ferrán Torner, Francesca Gualandi, Anna M. Gómèz‐Foix, Anna Ferrer, C. Ortez, A. Nascimento, Jaume Colomer, C. Jimenez‐Mallebrera	2013	12
20	Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency Molecular Genetics and Metabolism ·C. Ortez, Sofia Duarte, Aída Ormazábal, Mercedes Serrano, Ana Paula da Silva Perez, Roser Pons, M. Pineda, Zühal Yapıcı, E Fernández-Álvarez, Rosario Domingo‐Jiménez, Pedro de Castro, Rafael Artuch, Àngels García‐Cazorla	2014	11

About C. Ortez

C. Ortez is a scholar working on Molecular Biology, Genetics, Genetics, Cellular and Molecular Neuroscience and Cardiology and Cardiovascular Medicine, having authored 76 papers that have together received 691 indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (25 papers), Neurogenetic and Muscular Disorders Research (14 papers), RNA Research and Splicing (10 papers), Cardiomyopathy and Myosin Studies (10 papers), Genetics and Neurodevelopmental Disorders (10 papers), Genetic Neurodegenerative Diseases (8 papers), Mitochondrial Function and Pathology (7 papers) and Metabolism and Genetic Disorders (6 papers). The work is most often cited by research in Genetics (121 citations), Cellular and Molecular Neuroscience (146 citations), Cardiology and Cardiovascular Medicine (154 citations), Molecular Biology (422 citations) and Neurology (92 citations). C. Ortez has collaborated with scholars based in Spain, United Kingdom and Portugal. Frequent co-authors include A. Nascimento, Daniel Natera‐de Benito, C. Jimenez‐Mallebrera, P. Gallano, Lidia González‐Quereda, Cristina Jou, Manel Baena, Edgard Verdura, Jonàs Juan‐Mateu and Àngels García‐Cazorla. Their work appears in journals such as Neuromuscular Disorders, International Journal of Molecular Sciences, PLoS ONE, Annals of Clinical and Translational Neurology and European Journal of Paediatric Neurology.

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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