ArticleClinical genetics2013
Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.
Article in Clinical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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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
22 citing papers in PubMed, 40 citations in OpenAlex.
- Rare variants analyses suggest novel cleft genes in the African population.Scientific reports · 2024Article
- Rare Variants Analyses Suggest Novel Cleft Genes in the African Population.Research square · 2024Article
- Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.Human molecular genetics · 2022Article
- Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients.Genes · 2019Article
- Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.American journal of medical genetics. Part A · 2019Article
- Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts.American journal of medical genetics. Part A · 2019Article
- Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.Epigenomics · 2019Article
- Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes.European journal of human genetics : EJHG · 2018Article
- Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing.Birth defects research · 2017Article
- Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.American journal of medical genetics. Part A · 2017Article
- Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate.American journal of medical genetics. Part A · 2016Article
- IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.Clinical genetics · 2016Article
- Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.Human molecular genetics · 2016Article
- Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities.F1000Research · 2016Review
- Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans.American journal of medical genetics. Part A · 2015Article
- Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.PLoS genetics · 2015Article
- Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population.American journal of medical genetics. Part A · 2014Article
- Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics.JAMA pediatrics · 2014Review
- Genetics of cleft lip and cleft palate.American journal of medical genetics. Part C, Seminars in medical genetics · 2013Review
- Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).American journal of medical genetics. Part A · 2013Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Rare coding variants are a current focus in studies of complex disease. Previously, at least 68 rare coding variants were reported from candidate gene sequencing studies in non-syndromic cleft lip and palate (NSCL/P), a common birth defect. Advances in sequencing technology have now resulted in thousands of sequenced exomes, providing a large resource for comparative genetic studies. We collated rare coding variants reported to contribute to NSCL/P and compared them to variants identified from control exome databases to determine if some might be rare but benign variants. Seventy-one percentage of the variants described as etiologic for NSCL/P were not present in the exome data, suggesting that many likely contribute to disease. Our results strongly support a role for rare variants previously reported in the majority of NSCL/P candidate genes but diminish support for variants in others. However, because clefting is a complex trait it is not possible to be definitive about the role of any particular variant for its risk for NSCL/P.
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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.