ArticleHuman mutation2010
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
65 citing papers in PubMed, 1 synthesis or guideline pooled it, 147 citations in OpenAlex.
- Cerebrotendinous Xanthomatosis occurs at high frequency in Ashkenazi Jews.Molecular genetics and metabolism · 2025Pooled it
- Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study.Molecular genetics and metabolism reports · 2026Article
- Jewish Ethnic Subgroups and Artificial Intelligence Clinical Decision Support.Journal of religion and health · 2026Review
- Rare diseases in the Turkish-Cypriot community: a nationwide study.Journal of community genetics · 2026Article
- Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease.Neurology. Genetics · 2025Article
- Genetic disease risks of under-represented founder populations in New York City.PLoS genetics · 2025Article
- Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.Human genome variation · 2024Article
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.JIMD reports · 2023Article
- Glycogen storage diseases: An update.World journal of gastroenterology · 2023Review
- Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery.Human mutation · 2022Article
- Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.BMC medical genomics · 2022Article
- Evaluating the model of offering expanded genetic carrier screening to high school students within the Sydney Jewish community.Journal of community genetics · 2022Article
- A collaborative genetic carrier screening model for the British Ashkenazi Jewish community.Journal of community genetics · 2022Article
- The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia.Molecular genetics and metabolism reports · 2021Article
- The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.Neuroscience letters · 2021Article
- Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.Nutrients · 2021Review
- In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity.International journal of molecular sciences · 2021Article
- Beyond the "Jewish panel": the importance of offering expanded carrier screening to the Ashkenazi Jewish population.F&S reports · 2020Article
- 'We are all in the image of God': reproductive imaginaries and prenatal genetic testing in American Jewish communities.Reproductive biomedicine & society online · 2020Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reported in large AJ cohorts. We determined the carrier frequencies of over 100 mutations for 16 recessive disorders in the New York metropolitan area AJ population. Among the 100% AJ-descended individuals, screening for 16 disorders resulted in ∼1 in 3.3 being a carrier for one disease and ∼1 in 24 for two diseases. The carrier frequencies ranged from 0.066 (1 in 15.2; Gaucher disease) to 0.006 (1 in 168; nemaline myopathy), which averaged ∼15% higher than those for all screenees. Importantly, over 95% of screenees chose to be screened for all possible AJ diseases, including disorders with lower carrier frequencies and/or detectability. Carrier screening also identified rare individuals homozygous for disease-causing mutations who had previously unrecognized clinical manifestations. Additionally, prenatal testing results and experience for all 16 disorders (n = 574) are reported. Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population.
Indexed as
Identifiers
What OpenQuestion holds
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.