ReviewHuman genetics2010
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Review in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- Knowledge, Attitudes, Religiosity, and Reproductive Genetic Carrier Screening: A Cross-Sectional Study.Healthcare (Basel, Switzerland) · 2026Article
- Autosomal recessive diseases among the Israeli Arabs.Human genetics · 2019Article
- A novel treatment of temporomandibular joint arthritis as a complication in familial Mediterranean fever-literature review and a case report.Oral and maxillofacial surgery · 2018Review
- With expanded carrier screening, founder populations run the risk of being overlooked.Journal of community genetics · 2017Article
- Runs of homozygosity, copy number variation, and risk for depression and suicidal behavior in an Arab Bedouin kindred.Psychiatric genetics · 2017Article
- Reconstructing Druze population history.Scientific reports · 2016Article
- Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.Molecular vision · 2015Article
- A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Journal of community genetics · 2015Article
- Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Investigative ophthalmology & visual science · 2014Article
- Genetics and genomic medicine in Israel.Molecular genetics & genomic medicine · 2014Article
- Controversies and considerations regarding the termination of pregnancy for foetal anomalies in Islam.BMC medical ethics · 2014Article
- Congenital adrenal hyperplasia with beta-thalassemia--a rare association.Indian journal of pediatrics · 2012Article
- Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.Thyroid : official journal of the American Thyroid Association · 2012Article
- Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.American journal of human genetics · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Israeli population mainly includes Jews, Muslim and Christian Arabs, and Druze In the last decade, data on genetic diseases present in the population have been systematically collected and are available online in the Israeli national genetic database ( http://www.goldenhelix.org/server/israeli ). In the non-Jewish population, up to 1 July 2010, the database included molecular data on six diseases relatively frequent in the whole population: thalassemia, familial Mediterranean fever (FMF), cystic fibrosis, deafness, phenylketonuria and congenital adrenal hyperplasia, as well as data on 195 autosomal recessive diseases among Muslim Israeli Arabs, 11 among the Christian Arabs and 31 among Druze. A single mutation was characterized in 149 out of the 238 rare disorders for which the molecular basis was known. In many diseases, mutation had never been observed in any other population and was present in one family only suggesting that it occurred as a de novo event. In other diseases, the mutation was present in more than one community or even in other populations such as Bedouins from the Arab peninsula or Christians from Lebanon. In the 89 other disorders, more than one mutation was characterized either in the same gene or in more than one gene. While it is probable that most of these cases represent random events in some cases such as Bardet Biedl among the Bedouins, the reason may be a selective advantage to the heterozygotes.
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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.