World's Best Scientists 2026 revealed!

D-Index & Metrics

Medicine

D-Index
124
Citations
59375
World Ranking
3214
National Ranking
92

Overview

Enrico Bertini is affiliated with Bambino Gesù Children's Hospital in Italy and has a research focus spanning computer science and biochemistry, genetics, and molecular biology. Their work integrates technical disciplines with life sciences, illustrating a multidisciplinary approach to research.

Within their primary fields of study, Bertini has contributed notably to:

  • Computer Science
  • Biochemistry, Genetics and Molecular Biology

Subfields of specific interest include:

  • Artificial Intelligence
  • Computer Vision and Pattern Recognition
  • Molecular Biology
  • Sociology and Political Science
  • Genetics

Bertini's work has primarily engaged with the following topics:

  • Data Visualization and Analytics
  • Explainable Artificial Intelligence (XAI)
  • Machine Learning and Data Classification
  • Misinformation and Its Impacts
  • Scientific Computing and Data Management
  • Mitochondrial Function and Pathology
  • Anomaly Detection Techniques and Applications

Recent papers authored or co-authored by Bertini demonstrate a focus on visualization, interpretability, and the role of visual analytics in understanding machine learning models and pandemic data:

  • Human Factors in Model Interpretability: Industry Practices, Challenges, and Needs (2020), published in Proceedings of the ACM on Human-Computer Interaction
  • State of the Art of Visual Analytics for eXplainable Deep Learning (2023), Computer Graphics Forum
  • Misinformed by Visualization: What Do We Learn From Misinformative Visualizations? (2022), Computer Graphics Forum
  • PipelineProfiler: A Visual Analytics Tool for the Exploration of AutoML Pipelines (2020), IEEE Transactions on Visualization and Computer Graphics
  • Impact of COVID-19 forecast visualizations on pandemic risk perceptions (2022), Scientific Reports

Frequently publishing in venues such as arXiv (Cornell University), IEEE Transactions on Visualization and Computer Graphics, Computer Graphics Forum, Scientific Reports, and PubMed, Bertini maintains a consistent output across both computer science and biological sciences journals.

Collaborative efforts have involved multiple co-authors with whom Bertini has published repeatedly, including:

  • Racquel Fygenson
  • Jun Yuan
  • Brian Barr
  • Lace Padilla
  • Claudio Silva

This collaboration network reflects an interdisciplinary research environment linking visualization, machine learning, and biomedicine.

Best Publications

  • Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

    Gillian I. Rice;Paul R. Kasher;Gabriella M A Forte;Niamh M. Mannion

  • Consensus Statement for Standard of Care in Spinal Muscular Atrophy

    Ching H. Wang;Richard S. Finkel;Enrico S. Bertini;Mary Schroth

  • Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

    Eugenio Mercuri;Richard S Finkel;Francesco Muntoni;Brunhilde Wirth

  • Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

    Gillian I Rice;Jacquelyn Bond;Aruna Asipu;Rebecca L Brunette

  • Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

    Yanick J Crow;Yanick J Crow;Andrea Leitch;Bruce E Hayward;Anna Garner

  • An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.

    Massimo Zeviani;Serenella Servidei;Cinzia Gellera;Enrico Bertini

  • Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

    Valeria Tiranti;Konstanze Hoertnagel;Rosalba Carrozzo;Claudia Galimberti

  • Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

    Richard S. Finkel;Eugenio Mercuri;Oscar H. Meyer;Anita K. Simonds

  • PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    Neil V Morgan;Shawn K Westaway;Jenny E V Morton;Allison Gregory

  • Spinal muscular atrophy.

    Adele D'Amico;Eugenio Maria Mercuri;Francesco Danilo Tiziano;E. Bertini

  • Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

    Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  • Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.

    Darryl C. De Vivo;Enrico Bertini;Kathryn J. Swoboda;Wuh-Liang Hwu

  • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

    Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva

  • Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

    Craig M McDonald;Craig Campbell;Ricardo Erazo Torricelli;Richard S Finkel;Richard S Finkel

  • Childhood spinal muscular atrophy: controversies and challenges

    Eugenio Mercuri;Enrico Bertini;Susan T Iannaccone

  • Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

    Giovanni Stevanin;Filippo M. Santorelli;Hamid Azzedine;Hamid Azzedine;Paula Coutinho

  • Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

    Katja Grohmann;Markus Schuelke;Alexander Diers;Katrin Hoffmann

  • COQ2 Nephropathy: A Newly Described Inherited Mitochondriopathy with Primary Renal Involvement

    Francesca Diomedi-Camassei;Silvia Di Giandomenico;Filippo M. Santorelli;Gianluca Caridi

  • Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

    Olga Camacho Vanegas;Enrico Bertini;Rui Zhu Zhang;Stefania Petrini

Frequent Co-Authors

Eugenio Mercuri
Eugenio Mercuri Catholic University of the Sacred Heart
Filippo M. Santorelli
Filippo M. Santorelli Fondazione Stella Maris
Claudio Bruno
Claudio Bruno Istituto Giannina Gaslini
Rosalba Carrozzo
Rosalba Carrozzo Bambino Gesù Children's Hospital
Enza Maria Valente
Enza Maria Valente University of Pavia
Francesco Muntoni
Francesco Muntoni University College London
Giacomo P. Comi
Giacomo P. Comi University of Milan
Federico Vigevano
Federico Vigevano Bambino Gesù Children's Hospital
Carlo Minetti
Carlo Minetti University of Genoa
Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring a career in medicine doesn’t always follow a traditional route. Many students consider programs like easy nursing schools to get into, which can offer a more accessible path for those eager to enter the healthcare field quickly.

For those interested in administrative or non-clinical roles, enrolling in accredited medical billing and coding schools online with financial aid allows you to start your healthcare career with flexible, affordable options fully online.

If standardized tests are a concern, there are numerous opportunities at nursing school without teas test requirements, reducing barriers for those who want to become registered nurses.

For those aiming for leadership or administrative positions, consider the best healthcare administration degree programs. Accelerated online degrees can fast-track your entry into management roles within the healthcare sector.

Best Scientists Citing Enrico Bertini

Trending Scientists

Recently Published Articles