Dataciencia

Colección SciELO Chile

Using Online Mendelian Inheritance in Man in low- and middle-income countries

Indexado

WoS	WOS:000693263900001
Scopus	SCOPUS_ID:85114507711

DOI

10.1002/AJMG.A.62467

Año

2021

Tipo

material editorial

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras

Abstract

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.

Revista

Revista	ISSN
American Journal Of Medical Genetics Part A	1552-4825

Métricas Externas

PlumX	Altmetric	Dimensions

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Dimensions: https://www.dimensions.ai/why-dimensions/

Disciplinas de Investigación

WOS
Genetics & Heredity

Scopus
Sin Disciplinas

SciELO
Sin Disciplinas

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional

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Autores - Afiliación

Ord.	Autor	Género	Institución - País
1	de Macena Sobreira, Nara Lygia	Mujer	Johns Hopkins School of Medicine - Estados Unidos Johns Hopkins Univ - Estados Unidos Johns Hopkins University School of Medicine - Estados Unidos
2	REPETTO-LISBOA, MARIA GABRIELA	Mujer	Facultad de Medicina Clínica Alemana Universidad del Desarrollo - Chile Universidad del Desarrollo - Chile
3	Temtamy, Samia A.	Mujer	National Research Centre - Egipto Natl Res Ctr - Egipto
4	GARCIA-PEREZ, ANA ELIA	Mujer	Universidade Federal de São Paulo - Brasil Univ Fed Sao Paulo - Brasil

Muestra la afiliación y género (detectado) para los co-autores de la publicación.

Financiamiento

Fuente
Sin Información

Muestra la fuente de financiamiento declarada en la publicación.

Agradecimientos

Agradecimiento
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.

Agradecimiento

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.