ArticleBirth defects research. Part A, Clinical and molecular teratology2009
Identification of microdeletions in candidate genes for cleft lip and/or palate.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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.
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.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Phenotypic spectrum ofPeerJ · 2022Pooled it
- Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.NPJ genomic medicine · 2026Article
- Is 7p14.1 an orofacial cleft risk locus? Genome-wide study of copy number variation in multiple populations provides both a replication of previous studies and an alternative explanation.medRxiv : the preprint server for health sciences · 2026Article
- The impact of developmental genes in non-syndromic cleft lip and/or palateJournal of the Turkish German Gynecological Association · 2023Article
- Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.Journal of clinical medicine · 2023Article
- Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.American journal of human genetics · 2023Article
- Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.Molecular genetics and genomics : MGG · 2022Article
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- Case-Parent Trio Studies in Cleft Lip and Palate.Global medical genetics · 2020Review
- Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.Frontiers in cell and developmental biology · 2020Review
- Identification ofGenetics · 2018Article
- Bones, Glands, Ears and More: The Multiple Roles of FGF10 in Craniofacial Development.Frontiers in genetics · 2018Review
- Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.Birth defects research · 2017Article
- Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Human genetics · 2016Article
- Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.Journal of human genetics · 2015Article
- Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics.JAMA pediatrics · 2014Review
- A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk.BMC genetics · 2014Article
- Genetics of cleft lip and cleft palate.American journal of medical genetics. Part C, Seminars in medical genetics · 2013Review
- Genetics of nonsyndromic orofacial clefts.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2012Review
- Cleft lip and palate: understanding genetic and environmental influences.Nature reviews. Genetics · 2011Review
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 5 countries.
Funding
Abstract
backgroundGenome-wide association studies are now used routinely to identify genes implicated in complex traits. The panels used for such analyses can detect single nucleotide polymorphisms and copy number variants, both of which may help to identify small deleted regions of the genome that may contribute to a particular disease.
methodsWe performed a candidate gene analysis involving 1,221 SNPs in 333 candidate genes for orofacial clefting, using 2,823 samples from 725 two- and three-generation families with a proband having cleft lip with or without cleft palate. We used SNP genotyping, DNA sequencing, high-resolution DNA microarray analysis, and long-range PCR to confirm and characterize the deletion events.
resultsThis dataset had a high duplicate reproducibility rate (99.98%), high Mendelian consistency rate (99.93%), and low missing data rate (0.55%), which provided a powerful opportunity for deletion detection. Apparent Mendelian inconsistencies between parents and children suggested deletion events in 15 individuals in 11 genomic regions. We confirmed deletions involving CYP1B1, FGF10, SP8, SUMO1, TBX1, TFAP2A, and UGT7A1, including both de novo and familial cases. Deletions of SUMO1, TBX1, and TFAP2A are likely to be etiologic.
conclusionsThese deletions suggest the potential roles of genes or regulatory elements contained within deleted regions in the etiology of clefting. Our analysis took advantage of genotypes from a candidate-gene-based SNP survey and proved to be an efficient analytical approach to interrogate genes potentially involved in clefting. This can serve as a model to find genes playing a role in complex traits in general.
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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.