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D-Index & Metrics

Genetics

D-Index
60
Citations
13753
World Ranking
3151
National Ranking
65

Molecular Biology

D-Index
60
Citations
13753
World Ranking
1952
National Ranking
41

Overview

Massimo Carella is affiliated with Casa Sollievo della Sofferenza in Italy. Their research spans primarily the fields of Biochemistry, Genetics and Molecular Biology, as well as Medicine, with notable activity in related subfields such as Genetics, Molecular Biology, Cancer Research, Neurology, and Immunology.

Their work covers a range of main research topics including Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, RNA modifications and cancer, Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, MicroRNA in disease regulation, and Cancer-related molecular mechanisms research.

Frequent publication venues for Carella include:

  • Genes
  • Zenodo (CERN European Organization for Nuclear Research)
  • Frontiers in Oncology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • American Journal of Medical Genetics Part A

Their recent papers illustrate the scientific themes and their collaborations. These include:

  • Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients, 2021, Genes and Immunity
  • MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits, 2020, Nucleic Acids Research
  • Clinical Significance of Circulating miR-1273g-3p and miR-122-5p in Pancreatic Cancer, 2020, Frontiers in Oncology
  • False-positive results of SARS-CoV-2 IgM/IgG antibody tests in sera stored before the 2020 pandemic in Italy, 2020, International Journal of Infectious Diseases
  • APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants, 2023, Nature Communications

Massimo Carella's frequent co-authors include:

  • Orazio Palumbo
  • Pietro Palumbo
  • Tommaso Mazza
  • Marco Castori
  • Massimiliano Copetti

Best Publications

  • The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

    Camaschella C;Roetto A;Calì A;De Gobbi M

  • Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

    M Carella;L D'Ambrosio;A Totaro;A Grifa

  • Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

    Dan E. Arking;Sara L. Pulit;Sara L. Pulit;Sara L. Pulit;Lia Crotti;Pim Van Der Harst

  • Juvenile Hemochromatosis Locus Maps to Chromosome 1q

    A. Roetto;A. Totaro;M. Cazzola;M. Cicilano

  • MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

    Salvatore Melchionda;Nadav Ahituv;Luigi Bisceglia;Tama Sobe

  • Mitochondrial dysregulation and oxidative stress in patients with chronic kidney disease

    Simona Granata;Gianluigi Zaza;Simona Simone;Gaetano Villani

  • ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

    Elisa Benetti;Rossella Tita;Ottavia Spiga;Andrea Ciolfi

  • Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure

    Clelia Tiziana Storlazzi;Angelo Lonoce;Maria C. Guastadisegni;Domenico Trombetta

  • NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    Alessandro De Luca;Irene Bottillo;Anna Sarkozy;Claudio Carta

  • Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

    Anath C Lionel;Kristiina Tammimies;Kristiina Tammimies;Andrea K Vaags;Jill A Rosenfeld

  • Clock Gene Expression Levels and Relationship With Clinical and Pathological Features in Colorectal Cancer Patients

    G. Mazzoccoli;A. Panza;M. R. Valvano;O. Palumbo

  • Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

    Ada Piepoli;Francesca Tavano;Massimiliano Copetti;Tommaso Mazza

  • Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

    Howard T Jacobs;Timothy P Hutchin;Timothy P Hutchin;Timo Käppi;Greta Gillies

  • The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

    Nicoletta Chiesa;Agostina De Crescenzo;Kankadeb Mishra;Lucia Perone

  • DPM2-CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy

    Rita Barone;Chiara Aiello;Valérie Race;Eva Morava

  • Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

    Laura Bernardini;Stefania Gimelli;Cristina Gervasini;Massimo Carella

  • Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

    David C. Rees;Achille Iolascon;Massimo Carella;Aengus S. O'Marcaigh

  • 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

    Antonio Adamo;Sina Atashpaz;Pierre Luc Germain;Matteo Zanella

  • Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

    Sabrina Prudente;Prapaporn Jungtrakoon;Prapaporn Jungtrakoon;Antonella Marucci;Ornella Ludovico

  • Regulation of KEAP1 expression by promoter methylation in malignant gliomas and association with patient's outcome.

    Lucia Anna Muscarella;Raffaela Barbano;Vincenzo D'Angelo;Massimiliano Copetti

Frequent Co-Authors

Leopoldo Zelante
Leopoldo Zelante Casa Sollievo della Sofferenza
Paolo Gasparini
Paolo Gasparini University of Trieste
Angelo Andriulli
Angelo Andriulli Casa Sollievo della Sofferenza
Anna Latiano
Anna Latiano Casa Sollievo della Sofferenza
Vito Michele Fazio
Vito Michele Fazio Università Campus Bio-Medico
Andrea Riccio
Andrea Riccio University of Campania "Luigi Vanvitelli"
Fabio Pellegrini
Fabio Pellegrini Biogen (United States)
Clara Camaschella
Clara Camaschella Vita-Salute San Raffaele University
Giuseppe Merla
Giuseppe Merla University of Naples Federico II
Markus Perola
Markus Perola Finnish Institute for Health and Welfare

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