Author

Metodi Dimitrov Metodiev

Sorbonne Paris CitéORCID 0000-0002-9596-2434Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Agnès RötigiD· 2 shared Abdelhamid Slama· 1 shared Agnieszka NadeliD· 1 shared Akira OhtakeiD· 1 shared Alessia NascaiD· 1 shared Arnold MünnichiD· 1 shared Benedetta RuzzenenteiD· 1 shared Charles‐Joris RouxiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Agnès RötigORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton, Stefan Loipfinger, Chen Meng, Ines F. Scheller, Peter Freisinger, Robert Baski, Riccardo Berutti, Jürgen Behr, Martina Bucher, Felix Distelmaier, Elisabeth Graf, Mirjana Gušić, Maja Hempel, , Holger Prokisch

Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.

medRxiv · Mar 9, 2021 · PreprintGenetic & Genomic Medicine

Novel FARS2 mutations in patients with non-fatal early onset encephalopathy with or without epilepsy

Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles‐Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Münnich, Jean‐Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi Dimitrov Metodiev, Benedetta Ruzzenente

The paper reports three novel compound heterozygous FARS2 mutations in patients with non-fatal early onset encephalopathy and epilepsy.

European Journal of Human Genetics · Nov 9, 2020Peer-reviewedGenetic & Genomic Medicine