ArticleJournal of community genetics2019
Clusters of genetic diseases in Brazil.
Article in Journal of community genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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Who cites it
13 citing papers in PubMed.
- Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.Journal of community genetics · 2025Review
- Spatial analysis of risk areas of congenital anomalies in Brazil, 2012-2021.Epidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil · 2025Article
- The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).Journal of community genetics · 2024Article
- Human genetic determinants of COVID-19 in Brazil: challenges and future plans.Genetics and molecular biology · 2024Article
- Clusters of rare disorders and congenital anomalies in South America.Revista panamericana de salud publica = Pan American journal of public health · 2023Review
- Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge.Genetics and molecular biology · 2023Article
- So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity.Italian journal of pediatrics · 2022Article
- Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).Orphanet journal of rare diseases · 2022Article
- Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis.Genetics and molecular biology · 2022Article
- A large family with CYLD cutaneous syndrome: medical genetics at the community level.Journal of community genetics · 2020Article
- Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean.Cerebellum (London, England) · 2020Review
- Targeted sequencing identifies novel variants in common and rare MODY genes.Molecular genetics & genomic medicine · 2019Article
- Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach.Anais brasileiros de dermatologiaArticle
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
The aim of this paper is to present a database of isolated communities (CENISO) with high prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to identify such communities: (1) a systematic literature review and (2) a "rumor strategy" based on anecdotal accounts. All rumors and reports were validated in a stepwise process. The bibliographical search identified 34 rumors and 245 rumors through the rumor strategy, and 144 were confirmed. A database like this one presented here represents an important tool for the planning of health priorities for rare diseases in low- and middle-income countries with large populations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.