Gianfranco Bocchinfuso

Immunology and MicrobiologyBiochemistry, Genetics and Molecular Biology

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 4 papers. Top paper: “Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum”.

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.018

N/A

0DataRank · unranked

93 citations

Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti +45 more

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism

Parkinsonism & Related Disorders(2020)10.1016/j.parkreldis.2020.02.003

N/A

0DataRank · unranked

21 citations

Viviana Cordeddu, Serena Galosi, Ambra Lanzo, Eleonora Palma, Luca Pannone +28 more

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1 -related disorders and highlights the potential role of caffeine in controlling dyskinesia

Human Molecular Genetics(2021)10.1093/hmg/ddab296

N/A

0DataRank · unranked

45 citations

Serena Galosi, Enrico Lanza, Federica Tosato, Davide Caprini, Viola Folli +7 more

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100349

N/A

0DataRank · unranked

8 citations

Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo +30 more