Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction.
Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction.
复制标题
DOI：
10.1002/ajmg.a.62441
复制
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;Hamosh A
维克托A.麦库西克是一个言语很少、书面多的人，他对教育有着非凡的承诺，并在缅因州的奶牛场童年时期养成了职业道德。他是一个敏锐的观察者，并通过他的摄影记录了他在数千个棕色小笔记本上的观察。这些观察导致了700多篇出版物的参考书目，包括关于心音的论文，新的综合征，他与阿米什人的工作，以及许多书籍，包括结缔组织遗传性疾病和人类孟德尔遗传及其在线版本，OMIM®。在约翰霍普金斯大学60多年的职业生涯中，他创立了医学遗传学领域，在两大洲开设课程以分享其原理知识，并记录了对孟德尔表型及其相关基因的理解进展。他是人类基因组组织的创始主席，也是人类基因组计划的主要倡导者，其结果从根本上改变了生物研究和临床医学。在这位杰出的人诞辰一百周年之际，我们用这本纪念册来向他的成就表示荣誉是再合适不过的了。这本特刊的目的是为读者提供一个历史的视角，来了解维克托·麦库西克对医学遗传学领域的许多贡献，以及这些贡献对当今医学遗传学领域的影响。本期的第一篇文章是一本传记，题为《维克托·阿尔蒙·麦库西克：在孟德尔和奥斯勒的脚步》，作者克莱尔·弗兰科马诺（Clair Francomano）（2021）。在这本传记中，Francomano记录了McKusick个人的一面，包括对他童年的回顾，他与Anne Bishop McKusick博士59年的婚姻，他们的家庭生活以及他的许多重要学术成就。她注意到麦库西克和孟德尔的生活之间的一些相似之处，并讨论了麦库西克与约翰霍普金斯医院创始人之一威廉奥斯勒的相似之处，包括他们共同致力于培养医学生和奥斯勒传统的内务人员。朱迪思·霍尔（Judith Hall）的下一篇论文（2021）题为“仔细临床观察的贡献-遗产”。霍尔讨论了仔细的临床观察的重要性
Victor A. McKusick was a man of few spoken words and many written ones, with an extraordinary commitment to education and a work ethic developed during his dairy farming childhood in Maine. He was a keen observer and documented his observations in thousands of little brown notebooks and through his photography. These observations led to a bibliography of over 700 publications, including papers on heart sounds, novel syndromes, his work with the Amish, and many books including Heritable Disorders of Connective Tissue and Mendelian Inheritance in Man and its online version, OMIM®. Over the course of a more than 60-year career at Johns Hopkins University, he founded the field of medical genetics, established courses on two continents to share knowledge of its principles, and documented the progress in understanding Mendelian phenotypes and their associated genes. He was the founding President of the Human Genome Organization and was a chief advocate for the Human Genome Project, the results of which have fundamentally altered biological research and clinical medicine. It is only fitting that we honor the accomplishments of this remarkable man with this festschrift on the centenary of his birth.The goal of this special issue is to provide readers with a historical perspective of Victor McKusick’s many contributions to the field of medical genetics and the impact those contributions have on the field today. The first article in the issue is a biography titled “Victor Almon McKusick: In the Footsteps of Mendel and Osler” written by Clair Francomano (2021). In this biography, Francomano documents a personal side of McKusick, including a review of his childhood, his 59-year marriage to Dr. Anne Bishop McKusick, their family life, and many of his key academic accomplishments. She notes several parallels between the lives of McKusick and Gregor Mendel and discusses McKusick’s similarities to William Osler, one of the founders of Johns Hopkins Hospital, including their shared dedication to the training of medical students and house officers in the Osler tradition. The next paper by Judith Hall (2021) is titled “The Contributions of Careful Clinical Observations–A Legacy”. Hall discusses the importance of careful clinical observations
登录
查看更多内容
影响因子：
2
作者：
Francomano, Clair A.
通讯作者：
Francomano, Clair A.
影响因子：
2
作者：
Romeo, Giovanni;Bobrow, Martin;Ballabio, Andrea
通讯作者：
Ballabio, Andrea
DOI：
10.1002/ajmg.a.62405
发表时间：
2021-11
期刊：
American journal of medical genetics. Part A
影响因子：
--
作者：
Juengst ET
通讯作者：
Juengst ET
影响因子：
2
作者：
Vernon, Hilary J.;Manoli, Irini
通讯作者：
Manoli, Irini
影响因子：
2
作者：
Corson, Virginia L.;Bernhardt, Barbara A.
通讯作者：
Bernhardt, Barbara A.