Viewing Victor McKusick's legacy through the lens of his bibliography.
Viewing Victor McKusick's legacy through the lens of his bibliography.
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DOI：
10.1002/ajmg.a.62394
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发表时间：
2021-11
期刊：
影响因子：
--
通讯作者：
Hamosh A
中科院分区：
文献类型：
--
作者：
Rasmussen SA;Pomputius A;Amberger JS;Hamosh A
Victor McKusick 对医学遗传学领域的贡献是传奇性的，包括他作为导师、作为人类孟德尔遗传（现为在线人类孟德尔遗传 [OMIM®]）的创建者以及作为医学遗传学领域的领导者的贡献。 McKusick 的完整参考书目包括 772 种出版物。在这里，我们回顾了 McKusick 撰写并被 PubMed 索引的 453 篇论文，从他 1949 年在《新英格兰医学杂志》上发表的最早论文到 2008 年在《美国医学遗传学杂志 A 部分》上发表的最后一篇论文。这篇参考书目回顾记录了 McKusick 从对遗传学感兴趣的内科医生和心脏病专家到不断发展的医学遗传学领域受人尊敬的领导者的演变。对他的参考书目的回顾也提供了医学遗传学学科发展的历史视角。这个领域在他的一生中逐渐形成，从对有趣的病例和家庭的研究（用于编纂基本医学遗传学原理）转变为有望改变医疗保健的经过认可的医学专业。一路走来，他帮助整合医学和人类遗传学领域，专注于绘制人类基因组图谱，最终完成了人类基因组计划。这篇评论证实了维克多·麦库斯克作为医学遗传学之父所发挥的关键作用。
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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影响因子：
--
作者：
EVANS, DAP;MANLEY, KA;MCKUSICK, VA
通讯作者：
MCKUSICK, VA
影响因子：
3.4
作者：
Gott, VL;Laschinger, JC;McKusick, VA
通讯作者：
McKusick, VA
DOI：
10.1002/ajmg.1320280121
发表时间：
1987-09-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
HALL, JG;DORST, JP;MCKUSICK, VA
通讯作者：
MCKUSICK, VA
影响因子：
5
作者：
KHOURY, MJ;COHEN, BH;MCKUSICK, VA
通讯作者：
MCKUSICK, VA
影响因子：
5
作者：
KHOURY, MJ;COHEN, BH;MCKUSICK, VA
通讯作者：
MCKUSICK, VA