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Viewing Victor McKusick's legacy through the lens of his bibliography.
Rasmussen, Sonja A; Pomputius, Ariel; Amberger, Joanna S; Hamosh, Ada.
Afiliación
  • Rasmussen SA; Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Pomputius A; Department of Obstetrics and Gynecology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Amberger JS; Department of Epidemiology, University of Florida, College of Public Health and Health Professions and College of Medicine, Gainesville, Florida, USA.
  • Hamosh A; Health Science Center Libraries, University of Florida, Gainesville, Florida, USA.
Am J Med Genet A ; 185(11): 3212-3223, 2021 11.
Article en En | MEDLINE | ID: mdl-34159717
ABSTRACT
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Bases de Datos Genéticas / Genética Médica Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Genoma Humano / Bases de Datos Genéticas / Genética Médica Límite: Humans País/Región como asunto: America do norte Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos