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Genetics

D-Index
83
Citations
28550
World Ranking
1409
National Ranking
20

Overview

Marco Tartaglia is affiliated with Bambino Gesù Children's Hospital in Italy and has contributed extensively to research in the fields of Biochemistry, Genetics, and Molecular Biology, with notable work spanning Medicine as well. The scientist's research output covers diverse subfields including Molecular Biology, Genetics, Immunology, Oncology, and Cell Biology.

Tartaglia's main topics of study include:

  • Protein Tyrosine Phosphatases
  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Galectins and Cancer Biology
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer
  • Epigenetics and DNA Methylation

The frequent publication venues for Tartaglia's work encompass:

  • The American Journal of Human Genetics
  • European Journal of Human Genetics
  • Genes
  • Clinical Genetics
  • International Journal of Molecular Sciences

Among recent scientific papers, several illustrate active engagement with epigenetics, neurodevelopmental disorders, and genetics related to infectious diseases and cancer biology. Examples include:

  • Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (2020, The American Journal of Human Genetics)
  • ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population (2020, European Journal of Human Genetics)
  • Modeling medulloblastoma in vivo and with human cerebellar organoids (2020, Nature Communications)
  • Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders (2021, Human Genetics and Genomics Advances)
  • The Interplay between CD27dull and CD27bright B Cells Ensures the Flexibility, Stability, and Resilience of Human B Cell Memory (2020, Cell Reports)

Collaborations feature prominently in Tartaglia's career, with frequent co-authors including Andrea Ciolfi, Francesca Clementina Radio, Giuseppe Zampino, Simone Pizzi, and Marcello Niceta.

Best Publications

  • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

    Marco Tartaglia;Marco Tartaglia;Ernest L. Mehler;Rosalie Goldberg;Giuseppe Zampino

  • Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

    Marco Tartaglia;Charlotte M Niemeyer;Alessandra Fragale;Alessandra Fragale;Xiaoling Song

  • PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

    Marco Tartaglia;Marco Tartaglia;Kamini Kalidas;Adam Shaw;Xiaoling Song

  • Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

    Xonia Carvajal-Vergara;Ana Sevilla;Sunita L. Dsouza;Yen Sin Ang

  • Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

    Bhaswati Pandit;Anna Sarkozy;Len A Pennacchio;Claudio Carta

  • Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

    Marco Tartaglia;Len A Pennacchio;Len A Pennacchio;Chen Zhao;Kamlesh K Yadav

  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  • Noonan syndrome and related disorders: genetics and pathogenesis.

    Marco Tartaglia;Bruce D. Gelb

  • Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

    Viviana Cordeddu;Elia Di Schiavi;Len A. Pennacchio;Len A. Pennacchio;Avi Ma’ayan

  • Noonan syndrome and clinically related disorders

    Marco Tartaglia;Bruce D. Gelb;Martin Zenker

  • Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia

    Elisabetta Flex;Valentina Petrangeli;Lorenzo Stella;Sabina Chiaretti

  • Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

    Marco Tartaglia;Simone Martinelli;Lorenzo Stella;Gianfranco Bocchinfuso

  • No metagenomic evidence of tumorigenic viruses in cancers from a selected cohort of immunosuppressed subjects.

    Nunzia Passaro;Andrea Casagrande;Matteo Chiara;Bruno Fosso

  • A restricted spectrum of NRAS mutations causes Noonan syndrome

    Ion C. Cirstea;Kerstin Kutsche;Radovan Dvorsky;Lothar Gremer

  • Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous Syndromes: Molecular diversity and associated phenotypic spectrum

    Anna Sarkozy;Claudio Carta;Sonia Moretti;Giuseppe Zampino

  • Genetic evidence for lineage-related and differentiation stage–related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia

    Marco Tartaglia;Simone Martinelli;Giovanni Cazzaniga;Viviana Cordeddu

  • The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

    Christian P. Kratz;Charlotte M. Niemeyer;Robert P. Castleberry;Mualla Cetin

  • Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

    Simone Martinelli;Alessandro De Luca;Emilia Stellacci;Cesare Rossi

  • Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

    Claudio Carta;Francesca Pantaleoni;Gianfranco Bocchinfuso;Lorenzo Stella

  • Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

    Bruce D. Gelb;Marco Tartaglia

Frequent Co-Authors

Bruce D. Gelb
Bruce D. Gelb Icahn School of Medicine at Mount Sinai
Andrea Ciolfi
Andrea Ciolfi Bambino Gesù Children's Hospital
Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Maria Cristina Digilio
Maria Cristina Digilio University of Naples Federico II
Alessandro De Luca
Alessandro De Luca Casa Sollievo della Sofferenza
Martin Zenker
Martin Zenker Otto-von-Guericke University Magdeburg
Antonio Pizzuti
Antonio Pizzuti Sapienza University of Rome
Len A. Pennacchio
Len A. Pennacchio Lawrence Berkeley National Laboratory
Stefano Vicari
Stefano Vicari Boston Children's Hospital

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