TY - JOUR
T1 - Using Online Mendelian Inheritance in Man in low- and middle-income countries
AU - de Macena Sobreira, Nara Lygia
AU - Repetto, Gabriela M.
AU - Temtamy, Samia A.
AU - Alvarez Perez, Ana Beatriz
N1 - Funding Information:
We are saddened to report the unexpected death of our co-author Dr. Samia Temtamy on June 1, 2021. We acknowledge her seminal contributions to clinical and research genetics in Egypt, the Middle East, and in the world. Her magnum opus on hand malformations (“Temtamy”) has been the go-to reference for geneticists around the world for more than 50 years. She was passionate about understanding the molecular bases of the syndromes she encountered in her clinic and resolute in creating opportunities for her mentees to learn and participate in genetic research around the world. She was also a lively and determined colleague with wonderful values. We will miss her as a colleague and are committed to honor her with ongoing efforts to expand and enhance human genetics in low- and middle-income countries.
Publisher Copyright:
© 2021 Wiley Periodicals LLC.
PY - 2021/11
Y1 - 2021/11
N2 - Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low- and middle-income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and research analysis of next-generation sequencing. By facilitating free access to curated, updated, and comprehensive information in genetics and genomics, OMIM has led to better clinical care and research advancement in countries where clinicians and researchers in private or public hospitals and universities cannot afford to pay for other resources including journal subscriptions.
AB - Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, has been used in the low- and middle-income countries largely as a tool for improving clinical care, teaching genetics and genomics, and for clinical and research analysis of next-generation sequencing. By facilitating free access to curated, updated, and comprehensive information in genetics and genomics, OMIM has led to better clinical care and research advancement in countries where clinicians and researchers in private or public hospitals and universities cannot afford to pay for other resources including journal subscriptions.
KW - OMIM
KW - diagnosis
KW - education
KW - low-income countries
KW - middle-income countries
KW - rare diseases
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U2 - 10.1002/ajmg.a.62467
DO - 10.1002/ajmg.a.62467
M3 - Comment/debate
C2 - 34492150
AN - SCOPUS:85114507711
SN - 1552-4825
VL - 185
SP - 3284
EP - 3286
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 11
ER -