World's Best Scientists 2026 revealed!

D-Index & Metrics

Biology and Biochemistry

D-Index
47
Citations
14068
World Ranking
18562
National Ranking
7585

Research.com Recognitions

  • 1992 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Vincent M. Riccardi is affiliated with The Neurofibromatosis Institute in the United States. Their research focuses primarily on neurology and related medical fields, with a significant emphasis on neurofibromatosis and schwannoma cases. Over the course of their career, they have contributed extensively to the study of rare genetic disorders and their clinical manifestations.

The scientist's main fields of study include Medicine, with subfields in Neurology, Epidemiology, Pulmonary and Respiratory Medicine, Rheumatology, and Surgery. Their research topics include neurofibromatosis and schwannoma cases, sarcoma diagnosis and treatment, neuroblastoma research and treatments, chromatin remodeling and cancer, meningioma and schwannoma management, bone tumor diagnosis and treatments, and vascular malformations and hemangiomas.

Frequent publication venues for their work comprise Genetics in Medicine, Orphanet Journal of Rare Diseases, American Journal of Medical Genetics Part A, Cancers, and American Journal of Clinical Pathology. They have multiple publications in Genetics in Medicine, reflecting a continuing engagement with this journal as a primary platform for disseminating research findings.

They have collaborated extensively, with frequent coauthors including Karin Soares Cunha, Victor-Felix Mautner, David A. Stevenson, Conxi Lázaro, and Meena Upadhyaya. Each has coauthored multiple papers, indicating frequent and ongoing research partnerships.

Recent notable publications include:

  • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation, 2021, Genetics in Medicine
  • Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation, 2022, Genetics in Medicine
  • Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span, 2020, Genetics in Medicine
  • Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register-based cohort study, 2021, American Journal of Medical Genetics Part A
  • Neurofibromin Deficiency and Extracellular Matrix Cooperate to Increase Transforming Potential through FAK-Dependent Signaling, 2021, Cancers

Vincent M. Riccardi has been recognized as a Fellow of the American Association for the Advancement of Science (AAAS) since 1992, a distinction awarded twice in the same year.

Best Publications

  • Von Recklinghausen neurofibromatosis.

    Vincent M. Riccardi

  • Neurofibromatosis : phenotype, natural history, and pathogenesis

    Vincent M. Riccardi;James Smirniotopoulos

  • Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

    David H. Ledbetter;Vincent M. Riccardi;Susan D. Airhart;Richard J. Strobel

  • Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis.

    A G Menon;K M Anderson;V M Riccardi;R Y Chung

  • Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13

    U Francke;L B Holmes;L Atkins;V M Riccardi

  • Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

    E Legius;L Messiaen;P Wolkenstein;P Pancza

  • An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

    M. Upadhyaya;S. M. Huson;M. Davies;N. Thomas

  • Neurofibromatosis: clinical heterogeneity.

    Vincent M. Riccardi

  • Cognitive function and academic performance in neurofibromatosis 1 : Consensus statement from the NF1 Cognitive Disorders Task Force

    K. N. North;V. Riccardi;C. Samango-Sprouse;R. Ferner

  • Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1

    Elina Uusitalo;Matti Rantanen;Roope A. Kallionpää;Minna Pöyhönen

  • Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

    D H Ledbetter;J T Mascarello;V M Riccardi;V D Harper

  • Nonrandom loss of maternal chromosome 11 alleles in Wilms' tumors

    W. T. Schroeder;L. Y. Chao;D. D. Dao;Louise C Strong

  • Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

    Lucille M. Kayes;Wylie Burke;Vincent M. Riccardi;Robin Bennett

  • Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation

    Louise C. Strong;Vincent M. Riccardi;Robert E. Ferrell;Robert S. Sparkes

  • Familial cavernous angiomas: Natural history and genetic study over a 5‐year period

    L A Hayman;R A Evans;R E Ferrell;L M Fahr

  • Malignant peripheral nerve sheath tumors in neurofibromatosis 1.

    Allison A. King;Michael R. Debaun;Michael R. Debaun;Vincent M. Riccardi;David H. Gutmann

  • Neurofibromatosis: past, present, and future.

    Vincent M. Riccardi

  • The aniridia-Wilms tumor association: The critical role of chromosome band 11p13☆

    Vincent M. Riccardi;Helen M. Hittner;Uta Francke;Jorge J. Yunis

  • Neurofibro matosis: Oral and radiographic manifestations

    Steven D. Shapiro;Steven D. Shapiro;Kenneth Abramovitch;Kenneth Abramovitch;Margot L. Van Dis;Margot L. Van Dis;Larry J. Skoczylas;Larry J. Skoczylas

  • Neurofibromatosis: Phenotype, Natural History and Pathogenesis

    Vincent M. Riccardi

Frequent Co-Authors

David H. Ledbetter
David H. Ledbetter University of Florida
Louise C. Strong
Louise C. Strong The University of Texas MD Anderson Cancer Center
Richard A. Lewis
Richard A. Lewis Baylor College of Medicine
Meena Upadhyaya
Meena Upadhyaya Cardiff University
David H. Gutmann
David H. Gutmann Washington University in St. Louis
Stefan M. Pulst
Stefan M. Pulst University of Utah
Eric Legius
Eric Legius KU Leuven
Nancy Ratner
Nancy Ratner Cincinnati Children's Hospital Medical Center
Robert E. Ferrell
Robert E. Ferrell University of Pittsburgh
Uta Francke
Uta Francke Stanford University

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