ReviewNature reviews. Genetics2019
Carrier screening for recessive disorders.
Review in Nature reviews. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 2 of them syntheses 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
66 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review.European journal of human genetics : EJHG · 2023Pooled it
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2021Pooled it
- Identification of biallelic loss-of-functionJournal of medical genetics · 2026Article
- Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants.International journal of molecular sciences · 2026Article
- Parental age and its influence on functional dependency and cognitive decline in older adults: a cohort analysis.Journal of health, population, and nutrition · 2026Article
- Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.Human genomics · 2026Article
- Article
- Expanding carrier screening: beyond the genes, to include underrepresented ancestries.NPJ genomic medicine · 2025Article
- Article
- Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.Scientific reports · 2025Article
- Population-based genetic carrier screening. A consensus statement from the Spanish societies: AEGH, AEDP, ASEBIR, SEAGEN, SEF and SEGCD.European journal of human genetics : EJHG · 2025Review
- Subacute Juvenile Sandhoff Disease: A Progressive Neurodegenerative Disorder.International journal of clinical pediatric dentistry · 2025Article
- The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.Clinical genetics · 2025Article
- Preconception carrier screening in 2025: what's next? : A collection in the journal of community genetics.Journal of community genetics · 2025Article
- Nano-structured strategies in combatting neurodegeneration.Frontiers in bioengineering and biotechnology · 2025Review
- Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease.Cell reports methods · 2024Article
- Review
- Primary care professionals' views on population-based expanded carrier screening: an online focus group study.Family practice · 2024Article
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- [Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2024Article
6 more citing papers are in PubMed but not listed here.
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Technological and other advances over the past decades have led to the discovery of thousands of gene-disease associations for autosomal and X-linked recessive Mendelian disorders. Combined with recent improvements in assessing individual variants in each human genome, these developments offer the possibility of testing populations for all known severe recessive genetic disorders. Past experience has provided the framework for expanded carrier screening, but many challenges remain regarding which disorders to include, how to interpret variants and how to incorporate newly discovered gene-disease links into existing screening programmes.
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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.