Frederic Tort

机构：Centre for Biomedical Network Research on Rare Diseases, Consorci Institut D'Investigacions Biomediques August Pi I Sunyer, Universitat de Barcelona · ORCID：0000-0003-2733-1603

发表论文 76 篇 · 总被引 7447 次 · h-index 28

代表论文

• Clinical implementation of RNA sequencing for Mendelian disease diagnostics (2022 · Genome Medicine · 被引 219)
• International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management (2020 · Journal of Inherited Metabolic Disease · 被引 67)
• Clinical presentation and proteomic signature of patients with TANGO2 mutations (2019 · Journal of Inherited Metabolic Disease · 被引 66)
• Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene (2020 · Journal of Inherited Metabolic Disease · 被引 39)
• Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity (2020 · Journal of Molecular Diagnostics · 被引 35)
• Clinical implementation of RNA sequencing for Mendelian disease diagnostics (2021 · medRxiv · 被引 33)