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个人简介
Dr. McKusick is widely credited with placing genetics in the mainstream of clinical medicine. Among his most noteworthy contributions to the field of medical genetics--the study and management of inherited diseases and predispositions--is his concept of Mendelian disorders in connective tissues. His special interest in mapping gene locations on chromosomes and relating those gene locations to human disease was spurred when, as a young cardiologist, he had a number of patients with Marfan syndrome, an inherited disorder in which the aorta becomes dialated and sufficiently weakened to allow an aneurysm to develop.
Among McKusick’s many honors are the John Phillips Award of the American College of Physicians for distinguished contributions in internal medicine (1972), the Gaidner International Award (1977), the William A. Allan Award of the American Society of Human Genetics (1977), the James Murray Luck Award from the National Academy of Sciences (1982), and the Sanremo International Prize for Genetic Research (1983). He was inducted into the International Pediatrics Hall of Fame (1987) and received the Passano Award (1989) and the American Association of Physicians’ George M. Kober Medal (1990). More recently, McKusick was honored with the Ellen Browning Scripps Medal and the John P. McGovern Compleat Physician Award. McKusick also served in distinguished positions on numerous advisory boards and editorial boards and within professional organizations.
研究兴趣
论文共 279 篇作者统计合作学者相似作者
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Emery and Rimoin's Principles and Practice of Medical Genetics (2013)
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#Papers: 277
#Citation: 16401
H-Index: 54
G-Index: 54
Sociability: 6
Diversity: 3
Activity: 0
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