Simone Martinelli

11PUBLICATIONS
62CO-AUTHORS
AutoimmunityNoise and wave pollution processes and measurementGenomicsProcedural content generationEpigenetics (incl. genome methylation and epigenomics)
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Publications (11)

|Oct 07, 2026
Biallelic loss-of-function PTPN6 variants lead to inflammatory lung disease and hemolytic anemia.

|Jun 11, 2026
Developing a New Approach Methodology Framework to Assess Biological Responses to Nanoplastics: Insights from Polystyrene and Biodegradable Particles.

|May 27, 2026
Dissecting GPCR Contributions to Gαo-Dependent Motor Dysfunction in GNAO1-Related Disorders Using Caenorhabditis elegans.

|Oct 28, 2025
Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.

Mikhail Savitsky, Yonika A Larasati, Gonzalo P Solis

|Oct 11, 2025
Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.

Chloe Alexa McGhee, Julia R Plank, Luca Pannone

|Apr 13, 2024
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Emilia Stellacci, Jennefer N Carter, Luca Pannone

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Frequent Collaborators

4 joint publications

Marco Tartaglia

4 joint publications

Luca Pannone

2 joint publications

Vincenzo Leuzzi

2 joint publications

Alberto Martire