Frederic Tort

Centre for Biomedical Network Research on Rare Diseases

Also affiliated with Centro de Investigación Biomédica en Red, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques de Barcelona, Fundació Clínic per a la Recerca Biomèdica, Consorci Institut D'Investigacions Biomediques August Pi I Sunyer, Instituto de Investigación de Enfermedades Raras, Universitat de Barcelona

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 3 papers. Top paper: “Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease”.

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease

Annals of Neurology(2024)10.1002/ana.27071

N/A

0.312DataRank · unranked

7 citations

Jonathan Shintaku, Javier Ramón, Eliana Barriocanal‐Casado, Alba Pesini, Russell P. Saneto +23 more

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12286

N/A

0DataRank · unranked

66 citations

Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Čechová +31 more

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

medRxiv(2021)10.1101/2021.04.01.21254633

N/A

0DataRank · unranked

33 citations

Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston +48 more