Viewing Victor McKusick's legacy through the lens of his bibliography

Sonja A. Rasmussen, Ariel Pomputius, Joanna S. Amberger, Ada Hamosh

Research output: Contribution to journalArticlepeer-review


Victor McKusick's contributions to the field of medical genetics are legendary and include his contributions as a mentor, as creator of Mendelian Inheritance in Man (now Online Mendelian Inheritance in Man [OMIM®]), and as a leader in the field of medical genetics. McKusick's full bibliography includes 772 publications. Here we review the 453 papers authored by McKusick and indexed in PubMed, from his earliest paper published in the New England Journal of Medicine in 1949 to his last paper published in American Journal of Medical Genetics Part A in 2008. This review of his bibliography chronicles McKusick's evolution from an internist and cardiologist with an interest in genetics to an esteemed leader in the growing field of medical genetics. Review of his bibliography also provides a historical perspective of the development of the discipline of medical genetics. This field came into its own during his lifetime, transitioning from the study of interesting cases and families used to codify basic medical genetics principles to an accredited medical specialty that is expected to transform healthcare. Along the way, he helped to unite the fields of medical and human genetics to focus on mapping the human genome, culminating in completion of the Human Genome Project. This review confirms the critical role played by Victor McKusick as the founding father of medical genetics.

Original languageEnglish (US)
Pages (from-to)3212-3223
Number of pages12
JournalAmerican Journal of Medical Genetics, Part A
Issue number11
StatePublished - Nov 2021


  • Marfan syndrome
  • Old Order Amish
  • Victor McKusick
  • history
  • medical genetics

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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