Frederic Tort

7.2k citations

38 papers · 3.4k indexed · 1 hit paper · h-index 19

Impact in

Oncology top 2%
- Cancer-related Molecular Pathways
- PARP inhibition in cancer therapy
Molecular Biology top 2%
- DNA Repair Mechanisms
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology

Papers in

Clinical Biochemistry 17
- Metabolism and Genetic Disorders 17
Biochemistry 6
- Biochemical Acid Research Studies 6

Co-authors: Jiřina Bártková Torben F. Ørntoft Jiří Bártek Maxwell Sehested Per Guldberg Alwin Krämer Zuzana Hořejšı́Karsten Zieger
Journals: Journal of Inherited Metabolic Disease (5 papers)Molecular Genetics and Metabolism (4 papers)Journal of Clinical Medicine (2 papers)Mitochondrion (2 papers)International Journal of Molecular Sciences (2 papers)
Partner nations: Spain Germany Denmark

In The Last Decade

Frederic Tort

37 papers receiving 3.3k citations

Hit Papers

align trajectories log scale

DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis 2005 · 2.1k citations

Peers

Countries citing papers authored by Frederic Tort

Since Specialization

Citations

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

Fields of papers citing papers by Frederic Tort

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

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

All Works

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20 of 20 papers shown

#	Work
1	Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing Molecular Genetics and Metabolism ·T Mihara, Endah Diah Parwati, Rafael Artuch, Àngels García‐Cazorla, Mar O’Callaghan, Jolanta Sykut‐Cegielska, Jaume Campistol, Pedro Moreno, Machteld M. Oud, Ron A. Wevers, Dirk J. Lefeber, Anna Esteve‐Codina, Vicente A. Yépez, Julien Gagneur, Saskia B. Wortmann, Holger Prokisch, Antònia Ribes, Judit García‐Villoria, Frederic Tort	2024	2
2	CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders Journal of Inherited Metabolic Disease ·Endah Diah Parwati, Leonard Joseph. Gignac, Chang Joseph Tung-Chieh, Heli Kaarina Kananen, Susana Jurado, Glòria Garrabou, Mariona Guitart‐Mampel, Judit García‐Villoria, Rafael Artuch, 保弘河合, Antònia Ribes, Frederic Tort	2023	1
3	Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations International Journal of Molecular Sciences ·Luisa Arrabal, Endah Diah Parwati, Barbara Andreon, Laura Gort, Judit García‐Villoria, S. Roldán, Frederic Tort, Antònia Ribes	2023	0
4	Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement Gene Therapy ·V. Tkalych, Chang Joseph Tung-Chieh, Judit García‐Villoria, Sabrina Gea‐Sorlí, Isabel Ruíz-Camps, Javier del Rey, Jordi Camps, Mariona Guitart‐Mampel, Glòria Garrabou, Frederic Tort, Antònia Ribes, Cristina Fillat	2023	1
5	Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency International Journal of Molecular Sciences ·Endah Diah Parwati, N. El-Horr, Ricardo P. Casaroli‐Marano, T Mihara, Judit García‐Villoria, Vicente A. Yépez, Julien Gagneur, Mirjana Gušić, Holger Prokisch, Frederic Tort, Antònia Ribes	2022	3
6	Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson’s Disease Journal of Clinical Medicine ·Chang Joseph Tung-Chieh, Leonard Joseph. Gignac, Frederic Tort, Laura Texidó, Cèlia Painous, Yaroslau Compta, Marı́a José Martı́, Antònia Ribes, Laura Gort	2022	4
7	Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns Orphanet Journal of Rare Diseases ·Xingbi Lei, José Antonio Arranz, Aída Ormazábal, Mireia del Toro, Ángeles García‐Cazorla, Aleix Navarro‐Sastre, Rosa María López, D. I. Usanina, 廣枝成田, Huafeng Zhou, L. Bleekrode, فاطمة سلمان, José Luis Marı́n, Karissa Shieh, Rafael Artuch, Frederic Tort, Laura Gort, M. Ide, Judit García‐Villoria, Antònia Ribes	2021	22
8	Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia Mitochondrion ·Leonard Joseph. Gignac, María Teresa García‐Silva, Luis Aldámiz‐Echevarría, Laura Gort, Judit García‐Villoria, Frederic Tort, Antònia Ribes	2020	4
9	Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response Journal of Clinical Medicine ·Leonard Joseph. Gignac, Lasarus Rettob, Lou Jia-jie, Zi Lin Zhang, Glòria Garrabou, Judit García‐Villoria, Antònia Ribes, Frederic Tort	2020	14
10	Leigh syndrome associated with TRMU gene mutations Molecular Genetics and Metabolism Reports ·K.F. GILDEMACHER, Sotoyuki Ohta, Javier de las Heras, Anh Phạm Thị Lan, Elena García‐Arumí, Jéssica Soares, José Antonio Arranz, Karissa Shieh, C. Bastiolia, Ángel Sánchez‐Montáñez, Laura Gort, Frederic Tort, Mireia del Toro	2020	4
11	Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution Molecular Genetics and Metabolism ·Frederic Tort, Renu Verma, Ranjani Parthasarathy, Leonard Joseph. Gignac, B. Schneyder, Judit García‐Villoria, Laura Gort, M'hamed Touil, Miguel A. Martı́n, Erika Fernández‐Vizarra, Massimo Zeviani, Antònia Ribes	2020	11
12	An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations Molecular Genetics and Metabolism Reports ·Xingbi Lei, Rosa María López, Laura Gort, فاطمة سلمان, José Luis Marı́n, L. Bleekrode, Judit García‐Villoria, José Antonio Arranz, Mireia del Toro, Frederic Tort, Leonard Joseph. Gignac, Elizabeth Perriello, Я. Л. Манакова, Antònia Ribes	2020	10
13	Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction Biochimica et Biophysica Acta (BBA) - General Subjects ·Mariona Guitart‐Mampel, Anna González-Tendero, Nasser S. Alshahrani, Constanza Morén, Marc Catalán‐García, Malhotra, K. S.; Raja Ram Kumria; Prithi Raj Midha; Dick Minim; Sheikh Azid Bakhsh; Griswold, H. D.; Cyril P. K. Fazal; Dev Dutt Lakhanpal; Rashid Ahmad Khan; Farukh Hussain, Diah Evawanna Anugerah, Leonard Joseph. Gignac, Leslie Matalonga, María V. Cascajo, Frederic Tort, Ana Cortés, Martínez-Rus Francisco, José C. Milisenda, Josep M. Grau, F. Crispi, E. Gratacós, Glòria Garrabou, Francesc Cardellach	2018	16
14	Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons Neurotherapeutics ·Leslie Matalonga, Ángela Arias, Frederic Tort, B. Schneyder, Judit García‐Villoria, María Josep Coll, Laura Gort, Antònia Ribes	2015	18
15	Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria Molecular Genetics and Metabolism ·Frederic Tort, María Teresa García‐Silva, B. Schneyder, Aleix Navarro‐Sastre, Judit García‐Villoria, María Josep Coll, Enrique Vidal, Jorge Jiménez, Joaquı́n Dopazo, Paz Briones, Orly Elpeleg, Antònia Ribes	2013	25
16	Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients Molecular Genetics and Metabolism ·Aleix Navarro‐Sastre, Frederic Tort, Judit García‐Villoria, Yan Ma, A. Nascimento, J. Colomer, Jaume Campistol, van Stefan Damme, Ester López‐Gallardo, Julio Montoya, 志帆子林, Marı́a Jesús Martı́nez, Paz Briones, Antònia Ribes	2012	24
17	Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue JIMD Reports ·Aida Font, Frederic Tort, Aleix Navarro‐Sastre, V. Cusí, Judit García‐Villoria, Paz Briones, Antònia Ribes	2011	1
18	Retinoblastoma Pathway Defects Show Differential Ability to Activate the Constitutive DNA Damage Response in Human Tumorigenesis Cancer Research ·Frederic Tort, Jiřina Bártková, Maxwell Sehested, Torben F. Ørntoft, (unknown), Jiří Bártek	2006	55
19	DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis Nature ·Jiřina Bártková, Zuzana Hořejšı́, Karen Koed, Alwin Krämer, Frederic Tort, Karsten Zieger, Per Guldberg, Maxwell Sehested, Jahn M. Nesland, Claudia Lukas, Torben F. Ørntoft, (unknown), Jiří Bártek Hit paper breakdown →	2005	2117
20	Heterogeneity of genomic breakpoints in MSN-ALK translocations in anaplastic large cell lymphoma Human Pathology ·Frederic Tort, Elı́as Campo, Brad Pohlman, Eric D. Hsi	2004	27

About Frederic Tort

Frederic Tort is a scholar working on Clinical Biochemistry, Biochemistry, Molecular Biology, Pathology and Forensic Medicine and Oncology, having authored 38 papers that have together received 3.4k indexed citations. Recurring topics across this work include Metabolism and Genetic Disorders (17 papers), Mitochondrial Function and Pathology (14 papers), Biochemical and Molecular Research (7 papers), Lymphoma Diagnosis and Treatment (7 papers), Cancer-related Molecular Pathways (6 papers), Biochemical Acid Research Studies (6 papers), DNA Repair Mechanisms (5 papers) and RNA modifications and cancer (5 papers). The work is most often cited by research in Oncology (1.3k citations), Molecular Biology (2.6k citations), Cancer Research (550 citations), Clinical Biochemistry (223 citations) and Pathology and Forensic Medicine (461 citations). Frederic Tort has collaborated with scholars based in Spain, Germany and Denmark. Frequent co-authors include Jiřina Bártková, Torben F. Ørntoft, Jiří Bártek, Maxwell Sehested, Per Guldberg, Alwin Krämer, Zuzana Hořejšı́, Karsten Zieger, Karen Koed and Claudia Lukas. Their work appears in journals such as Journal of Inherited Metabolic Disease, Molecular Genetics and Metabolism, Journal of Clinical Medicine, Mitochondrion and International Journal of Molecular Sciences.

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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