ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Expanded genetic screening panel for the Ashkenazi Jewish population.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 84 citations in OpenAlex.
- Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System.Molecular genetics & genomic medicine · 2026Article
- Genetic disease risks of under-represented founder populations in New York City.PLoS genetics · 2025Article
- Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.BMC medical genomics · 2024Article
- Review
- Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.Human genomics · 2023Article
- Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia.Neuron · 2021Article
- Beyond the "Jewish panel": the importance of offering expanded carrier screening to the Ashkenazi Jewish population.F&S reports · 2020Article
- Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals.Journal of community genetics · 2020Article
- Online BRCA1/2 screening in the Australian Jewish community: a qualitative study.Journal of community genetics · 2020Article
- Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- The Multifactorial Etiopathogeneses Interplay of Inflammatory Bowel Disease: An Overview.Gastrointestinal disorders (Basel, Switzerland) · 2019Article
- Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.European journal of human genetics : EJHG · 2019Article
- Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.PLoS genetics · 2018Article
- Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Assessing risk for Mendelian disorders in a Bronx population.Molecular genetics & genomic medicine · 2017Article
- Differential analysis of mutations in the Jewish population and their implications for diseases.Genetics research · 2017Article
- Response to Zlotogora and Meiner.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Ashkenazi carrier screening for reproductive planning: is this what we planned for?Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
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17 authors at 7 institutions in 2 countries.
Funding
Abstract
purposeCarrier screening programs that identify the presence of known mutations have been effective for reducing the incidence of autosomal recessive conditions in the Ashkenazi Jewish (AJ) population and other populations. Yet, these programs have not realized their full potential. Furthermore, many known autosomal recessive and dominant conditions are not screened for and the molecular basis of other conditions for which screening might be offered is unknown.
methodsThrough literature review and annotation of full sequenced genomes from healthy individuals, we expanded the list of mutations. Mutations were identified in a sample of 128 fully sequenced AJ genomes that were filtered through clinical databases and curated manually for clinical validity and utility using the American College of Medical Genetics and Genomics scoring (ACMG) system. Other known mutations were identified through literature review.
resultsA panel of 163 mutations was identified for 76 autosomal recessive, 24 autosomal dominant, and 3 X-linked disorders.
conclusionScreening for a broader range of disorders not only could further reduce the incidence of autosomal recessive disorders but also could offer the benefits of early or presymptomatic diagnosis.Genet Med 18 5, 522-528.
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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.