Simone Martinelli

Biochemistry, Genetics and Molecular BiologyImmunology and Microbiology

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 13 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

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Brain(2021)10.1093/brain/awab299

N/A

0DataRank · unranked

42 citations

Ban H. Edani, Simone Martinelli, Hana Hansíková, Erik A. Eklund, Caterina Caputi +45 more

C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples

Scientific Reports(2021)10.1038/s41598-021-96613-z

N/A

0DataRank · unranked

33 citations

Martina Di Rocco, Silvia Schwartz, Davide Caprini, Edoardo Milanetti, Giuseppe Ferrarese +6 more

Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia

The Journal of Clinical Endocrinology & Metabolism(2021)10.1210/clinem/dgab790

N/A

0DataRank · unranked

17 citations

Antonella Marucci, Luca Pannone, Amélie Bonnefond, Serena Pezzilli, Tommaso Biagini +21 more

C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples

Research Square(2021)10.21203/rs.3.rs-422517/v1

N/A

0DataRank · unranked

1 citations

Martina Di Rocco, Silvia Schwartz, Davide Caprini, Edoardo Milanetti, Giuseppe Ferrarese +6 more

Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease

Genes(2023)10.3390/genes14020319

N/A

0DataRank · unranked

18 citations

Serena Galosi, Francesca C. Follo, Enrico Lanza, Viola Folli, Alberto Martire +3 more

The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans

Frontiers in Molecular Neuroscience(2023)10.3389/fnmol.2023.1170061

N/A

0DataRank · unranked

5 citations

Valentina Muto, Francesca Nardecchia, Martina Di Rocco, Emilia Marchei, Federica Tosato +12 more

C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals

Journal of Clinical Investigation(2024)10.1172/jci165814

N/A

0DataRank · unranked

12 citations

Valeria Morbidoni, Giulia Milan, Roberta Sartori, Jesper Wulff, Vanina Romanello +19 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

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63627

N/A

0DataRank · unranked

2 citations

Jennefer Carter, Luca Pannone, David A. Stevenson, Dorsa Moslehi, Serenella Venanzi +5 more

Interpreting the functional impact of genetic variants: The need for context qualifiers

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.11.007

N/A

0DataRank · unranked

3 citations

Hélène Cavé, Alessandro De Luca, Marina T. DiStefano, Rachel Karchin, Ana Clara Lugones +8 more