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维克托·阿尔蒙·麦库西克:孟德尔和奥斯勒的追随者。

Victor Almon McKusick: In the footsteps of Mendel and Osler.

机构信息

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

出版信息

Am J Med Genet A. 2021 Nov;185(11):3193-3201. doi: 10.1002/ajmg.a.62451. Epub 2021 Aug 31.

DOI:10.1002/ajmg.a.62451
PMID:34463023
Abstract

Victor Almon McKusick (VAM) is widely recognized as the father of the field of medical genetics. He established one of the first medical genetics clinics in the United States at Johns Hopkins in 1957 and developed a robust training program with the tripartite mission of education, research, and clinical care. Thousands of clinicians and scientists were educated over the years through the Short Course in Medical and Molecular Genetics, which VAM founded with Dr. Thomas Roderick in 1960. His Online Mendelian Inheritance in Man (OMIM), a catalog of human genes and genetic disorders, serves as the authoritative reference for geneticists around the globe. Throughout his career he was an advocate for mapping the human genome. He collaborated with Dr. Frank Ruddle in founding the International Human Gene Mapping Workshops in the early 70's and was an avid proponent of the Human Genome Project. He was the founding President of the Human Genome Organization and a founding editor of the journal Genomics. His prodigious contributions to the field of medical genetics were recognized by multiple honors, culminating with the Japan Prize in 2008.

摘要

Victor Almon McKusick(VAM)被广泛认为是医学遗传学领域的奠基人。他于 1957 年在美国约翰霍普金斯大学建立了美国最早的医学遗传学诊所之一,并制定了一项强大的培训计划,其使命是教育、研究和临床护理三管齐下。多年来,通过 VAM 与 Thomas Roderick 博士于 1960 年创立的医学和分子遗传学短期课程,数以千计的临床医生和科学家接受了培训。他的在线孟德尔遗传数据库(OMIM)是人类基因和遗传疾病的目录,是全球遗传学家的权威参考。在他的整个职业生涯中,他一直倡导绘制人类基因组图谱。他与 Frank Ruddle 博士合作,于 70 年代初创立了国际人类基因图谱研讨会,并积极支持人类基因组计划。他是人类基因组组织的创始主席和基因组学杂志的创始编辑。他对医学遗传学领域的巨大贡献获得了多项荣誉,其中包括 2008 年的日本奖。

相似文献

1
Victor Almon McKusick: In the footsteps of Mendel and Osler.维克托·阿尔蒙·麦库西克:孟德尔和奥斯勒的追随者。
Am J Med Genet A. 2021 Nov;185(11):3193-3201. doi: 10.1002/ajmg.a.62451. Epub 2021 Aug 31.
2
Viewing Victor McKusick's legacy through the lens of his bibliography.从他的文献目录看维克多·麦库西克的遗产。
Am J Med Genet A. 2021 Nov;185(11):3212-3223. doi: 10.1002/ajmg.a.62394. Epub 2021 Jun 23.
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Victor McKusick: Father of Medical Genetics and his Impact on Orthopaedics.维克托·麦库西克:医学遗传学之父及其对矫形外科学的影响。
J Surg Orthop Adv. 2024 Summer;33(2):68-71.
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Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.在线孟德尔人类遗传数据库 (OMIM®):维克托·麦克库斯基克的巨著。
Am J Med Genet A. 2021 Nov;185(11):3259-3265. doi: 10.1002/ajmg.a.62407. Epub 2021 Jun 24.
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Retrospective: Victor A. McKusick (1921-2008).回顾:维克多·A·麦库西克(1921 - 2008)。
Science. 2008 Aug 15;321(5891):925. doi: 10.1126/science.1163901.
6
[Victor A. McKusick (1921-2008): initiator and orchestrator of the transition between medical genetics and genetic medicine].[维克多·A·麦库西克(1921 - 2008):医学遗传学与基因医学过渡阶段的发起者与协调者]
Med Sci (Paris). 2008 Dec;24(12):1103-4. doi: 10.1051/medsci/200824121103.
7
Victor McKusick and his role in the founding of the European School of Genetic Medicine.维克托·麦克库斯基及其在欧洲遗传医学学院成立中的作用。
Am J Med Genet A. 2021 Nov;185(11):3253-3258. doi: 10.1002/ajmg.a.62481. Epub 2021 Sep 8.
8
The genes of OMIM: A legacy of Victor McKusick.《在线人类孟德尔遗传》(OMIM)的基因:维克多·麦库西克的遗产。
Am J Med Genet A. 2021 Nov;185(11):3276-3283. doi: 10.1002/ajmg.a.62415. Epub 2021 Jul 2.
9
Victor McKusick and his short course.维克托·麦库西克与他的短期课程。
Am J Med Genet A. 2021 Nov;185(11):3242-3252. doi: 10.1002/ajmg.a.62435. Epub 2021 Aug 17.
10
Three decades of the Human Genome Organization.人类基因组组织三十年。
Am J Med Genet A. 2021 Nov;185(11):3314-3321. doi: 10.1002/ajmg.a.62512. Epub 2021 Sep 28.

引用本文的文献

1
Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction.《维克多·A·麦库西克诞辰一百周年纪念文集:引言》
Am J Med Genet A. 2021 Nov;185(11):3189-3192. doi: 10.1002/ajmg.a.62441. Epub 2021 Aug 2.