Personal journeys to and in human genetics and dysmorphology

Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals and families. Both have become indispensable to...

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Veröffentlicht in:American journal of medical genetics. Part A 2024-06, Vol.194 (6), p.e63514-n/a
Hauptverfasser: Schwartz, Charles E., Aylsworth, Arthur S., Allanson, Judith, Battaglia, Agatino, Carey, John C., Curry, Cynthia J., Davies, Kay E., Eichler, Evan E., Graham, John M., Hall, Bryan, Hall, Judith G., Holmes, Lewis B., Hoyme, H. Eugene, Hunter, Alasdair, Innis, Jeffrey, Johnson, John, Keppler‐Noreuil, Kim M., Leroy, Jules G., Moore, Cynthia, Nelson, David L., Neri, Giovanni, Opitz, John M., Picketts, David, Raymond, F. Lucy, Shalev, Stavit Allon, Stevenson, Roger E., Stumpel, Connie T. R. M., Sutherland, Grant, Viskochil, David H., Weaver, David D., Zackai, Elaine H.
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container_issue 6
container_start_page e63514
container_title American journal of medical genetics. Part A
container_volume 194
creator Schwartz, Charles E.
Aylsworth, Arthur S.
Allanson, Judith
Battaglia, Agatino
Carey, John C.
Curry, Cynthia J.
Davies, Kay E.
Eichler, Evan E.
Graham, John M.
Hall, Bryan
Hall, Judith G.
Holmes, Lewis B.
Hoyme, H. Eugene
Hunter, Alasdair
Innis, Jeffrey
Johnson, John
Keppler‐Noreuil, Kim M.
Leroy, Jules G.
Moore, Cynthia
Nelson, David L.
Neri, Giovanni
Opitz, John M.
Picketts, David
Raymond, F. Lucy
Shalev, Stavit Allon
Stevenson, Roger E.
Stumpel, Connie T. R. M.
Sutherland, Grant
Viskochil, David H.
Weaver, David D.
Zackai, Elaine H.
description Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals and families. Both have become indispensable to unraveling rare diseases. Almost every medical specialty relies on individuals experienced in these specialties to provide diagnoses for patients who present themselves to other doctors. Additionally, both specialties have become reliant on molecular geneticists to identify genes associated with human disorders. Many of the medical geneticists, dysmorphologists, and molecular geneticists traveled a circuitous route before arriving at the position they occupied. The purpose of collecting the memoirs contained in this article was to convey to the reader that many of the individuals who contributed to the advancement of genetics and dysmorphology since the late 1960s/early 1970s traveled along a journey based on many chances taken, replying to the necessities they faced along the way before finding full enjoyment in the practice of medical and human genetics or dysmorphology. Additionally, and of equal importance, all exhibited an ability to evolve with their field of expertise as human genetics became human genomics with the development of novel technologies.
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subjects dysmorphology
genetics
Genetics, Medical
History, 20th Century
History, 21st Century
Human Genetics
Humans
medical genetics
memoir
title Personal journeys to and in human genetics and dysmorphology
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