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Isabella Ceccherini

Isabella Ceccherini

D-Index & Metrics

Genetics

D-Index
65
Citations
24585
World Ranking
2660
National Ranking
45

Overview

Isabella Ceccherini is affiliated with the University of Genoa in Italy and has contributed extensively to medical and molecular biology research. Their work spans key fields including Medicine and Biochemistry, Genetics, and Molecular Biology, with a publication record showing strong involvement in specialized subfields such as Molecular Biology, Immunology, Genetics, Surgery, and Hematology.

The scientist's research topics largely focus on Immunodeficiency and Autoimmune Disorders, Blood disorders and treatments, Neuroscience of respiration and sleep, Inflammasome and immune disorders, Neonatal Respiratory Health Research, RNA regulation and disease, and Autoimmune and Inflammatory Disorders Research.

Frequent co-authors collaborating with Isabella Ceccherini include:

  • Alice Grossi
  • Maurizio Miano
  • Carlo Dufour
  • Marco Gattorno
  • Paola Terranova

Their publications have appeared regularly in several notable scholarly venues. These include:

  • Frontiers in Immunology
  • International Journal of Molecular Sciences
  • Genes
  • HemaSphere
  • Blood

Recent papers by Isabella Ceccherini highlight diverse aspects of biomedical research:

  • "Recent advances in the developmental origin of neuroblastoma: an overview," 2022, Journal of Experimental & Clinical Cancer Research
  • "Guidelines for diagnosis and management of congenital central hypoventilation syndrome," 2020, Orphanet Journal of Rare Diseases
  • "ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era," 2020, Clinical Chemistry
  • "Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia," 2021, Brain
  • "Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy," 2021, Brain

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

    Robert M. W. Hofstra;Rudy M. Landsvater;Isabella Ceccherini;Rein P. Stulp

  • Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

    Giovanni Romeo;Patrizia Ronchetto;Yin Luo;Virginia Barone

  • SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

    Véronique Pingault;Nadège Bondurand;Kirsten Kuhlbrodt;Derk E. Goerich

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome: Genetic Basis, Diagnosis, and Management

    Debra E. Weese-Mayer;Elizabeth M. Berry-Kravis;Isabella Ceccherini;Thomas G. Keens

  • PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

    I Matera;T Bachetti;F Puppo;M Di Duca

  • Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability

    Eileen Sproat Emison;Merce Garcia-Barcelo;Elizabeth A. Grice;Francesca Lantieri

  • RET mutations in human disease

    Barbara Pasini;Isabella Ceccherini;Giovanni Romeo;Giovanni Romeo

  • Guidelines for the genetic diagnosis of hereditary recurrent fevers

    Y Shinar;L Obici;I Aksentijevich;B Bennetts

  • Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene

    Angelo V. Marzano;Valentina Trevisan;Marco Gattorno;Isabella Ceccherini

  • Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16.

    Andrew O.M. Wilkie;Douglas R. Higgs;Katrina A. Rack;Veronica J. Buckle

  • Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).

    A V Marzano;G Damiani;I Ceccherini;E Berti

  • DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

    Ceccherini I;Hofstra Rm;Luo Y;Stulp Rp

  • Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence.

    Cristina Romei;Rossella Elisei;Aldo Pinchera;Isabella Ceccherini

  • Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.

    S. Borghini;S. Tassi;S. Chiesa;F. Caroli

  • Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences

    Marco Musso;Renata Bocciardi;Sara Parodi;Roberto Ravazzolo

  • Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor–induced apoptosis: Pathogenetic and clinical implications

    Andrea D'Osualdo;Francesca Ferlito;Ignazia Prigione;Laura Obici

  • New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

    Marielle E Van Gijn;Isabella Ceccherini;Yael Shinar;Ellen C Carbo

Frequent Co-Authors

Marco Gattorno
Marco Gattorno Istituto Giannina Gaslini
Roberto Ravazzolo
Roberto Ravazzolo University of Genoa
Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Jeanne Amiel
Jeanne Amiel Université Paris Cité
Alberto Martini
Alberto Martini University of Genoa
Robert M.W. Hofstra
Robert M.W. Hofstra Erasmus University Rotterdam
Marcella Devoto
Marcella Devoto University of Pennsylvania
Marco Seri
Marco Seri University of Bologna
Aravinda Chakravarti
Aravinda Chakravarti New York University Langone Medical Center
Maria Pia Sormani
Maria Pia Sormani University of Genoa

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