Published in Nat Genet on December 20, 2009
Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet (2011) 5.41
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet (2010) 3.63
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet (2012) 2.15
A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet (2012) 1.91
The evolution of human genetic studies of cleft lip and cleft palate. Annu Rev Genomics Hum Genet (2012) 1.58
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Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study. Hum Genet (2013) 1.28
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Genetic determination of human facial morphology: links between cleft-lips and normal variation. Eur J Hum Genet (2011) 1.17
Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. Birth Defects Res A Clin Mol Teratol (2012) 1.16
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. Am J Hum Genet (2015) 1.16
Detecting genetic association of common human facial morphological variation using high density 3D image registration. PLoS Comput Biol (2013) 1.04
Insights into neural crest development and evolution from genomic analysis. Genome Res (2013) 1.02
Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders. Cleft Palate Craniofac J (2011) 0.98
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). Am J Med Genet A (2013) 0.95
'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate. Bioinformatics (2012) 0.95
X-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia. PLoS One (2012) 0.95
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish. Am J Hum Genet (2011) 0.92
A multi-platform draft de novo genome assembly and comparative analysis for the Scarlet Macaw (Ara macao). PLoS One (2013) 0.92
Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A (2013) 0.91
Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls. Stem Cell Rev (2011) 0.91
Further evidence of association of the ABCA4 gene with cleft lip/palate. Eur J Oral Sci (2012) 0.90
SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. Hum Mol Genet (2014) 0.90
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. Hum Mol Genet (2016) 0.90
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. Hum Mol Genet (2014) 0.89
Genetics and management of the patient with orofacial cleft. Plast Surg Int (2012) 0.89
New insights into craniofacial malformations. Hum Mol Genet (2015) 0.89
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Am J Hum Genet (2016) 0.88
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. Am J Hum Genet (2016) 0.88
How much are we missing in SNP-by-SNP analyses of genome-wide association studies? Epidemiology (2011) 0.88
GWAS reveals new recessive loci associated with non-syndromic facial clefting. Eur J Med Genet (2012) 0.88
Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA Pediatr (2014) 0.88
Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate. J Anat (2014) 0.88
Association of AXIN2 with non-syndromic oral clefts in multiple populations. J Dent Res (2012) 0.87
BMP4 was associated with NSCL/P in an Asian population. PLoS One (2012) 0.86
Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans. Am J Med Genet A (2015) 0.86
Application of a novel hybrid study design to explore gene-environment interactions in orofacial clefts. Ann Hum Genet (2012) 0.85
Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population. Am J Med Genet A (2014) 0.85
Candidate pathway based analysis for cleft lip with or without cleft palate. Stat Appl Genet Mol Biol (2012) 0.85
Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities. F1000Res (2016) 0.85
Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate. PLoS One (2014) 0.85
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene. PLoS Genet (2016) 0.84
A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1. Hum Mol Genet (2015) 0.82
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. Hum Mol Genet (2015) 0.82
Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations. J Dent Res (2016) 0.82
Imputation of Orofacial Clefting Data Identifies Novel Risk Loci and Sheds Light on the Genetic Background of Cleft Lip ± Cleft Palate and Cleft Palate Only. Hum Mol Genet (2017) 0.81
TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China. PLoS One (2013) 0.81
Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts. Eur J Hum Genet (2013) 0.81
Single nucleotide polymorphism of bone morphogenetic protein 4 gene: A risk factor of non-syndromic cleft lip with or without palate. Indian J Plast Surg (2015) 0.80
A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting. PLoS One (2013) 0.79
Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate. BMC Med Genet (2013) 0.79
Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate. PLoS One (2013) 0.79
Properties of permutation-based gene tests and controlling type 1 error using a summary statistic based gene test. BMC Genet (2013) 0.79
The functional EGF+61 polymorphism and nonsyndromic oral clefts susceptibility in a Brazilian population. J Appl Oral Sci (2015) 0.78
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. Hum Genet (2017) 0.78
Mouse resources for craniofacial research. Genesis (2011) 0.78
Gene-Gene Interaction Among WNT Genes for Oral Cleft in Trios. Genet Epidemiol (2015) 0.78
Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population. BMC Med Genet (2016) 0.78
Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting. Nat Commun (2017) 0.78
Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate. Birth Defects Res A Clin Mol Teratol (2014) 0.77
Parental risk factors for oral clefts among Central Africans, Southeast Asians, and Central Americans. Birth Defects Res A Clin Mol Teratol (2015) 0.77
Is it rare or common? Genet Epidemiol (2012) 0.77
Genomic expression in non syndromic cleft lip and palate patients: A review. J Oral Biol Craniofac Res (2015) 0.76
Palatogenesis and cutaneous repair: A two-headed coin. Dev Dyn (2014) 0.76
Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate. Genet Epidemiol (2016) 0.76
A Clustered Multiclass Likelihood-Ratio Ensemble Method for Family-Based Association Analysis Accounting for Phenotypic Heterogeneity. Genet Epidemiol (2016) 0.76
On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium. Genet Epidemiol (2011) 0.76
Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. Am J Med Genet A (2017) 0.75
Signatures of natural selection on genetic variants affecting complex human traits. Appl Transl Genom (2013) 0.75
Genetics and genomics etiology of nonsyndromic orofacial clefts. Mol Genet Genomic Med (2017) 0.75
The Impact of Evolutionary Driving Forces on Human Complex Diseases: A Population Genetics Approach. Scientifica (Cairo) (2016) 0.75
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity. Nat Commun (2017) 0.75
Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population. PLoS One (2016) 0.75
Identification of susceptibility genes in non-syndromic cleft lip with or without cleft palate using whole-exome sequencing. Med Oral Patol Oral Cir Bucal (2015) 0.75
Age of onset and effect size in genome-wide association studies. Birth Defects Res A Clin Mol Teratol (2012) 0.75
Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate. Front Genet (2016) 0.75
Genetic polymorphism of nonsyndromic cleft lip with or without cleft palate is associated with developmental dyslexia in Chinese school-aged populations. J Hum Genet (2016) 0.75
Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China. Medicine (Baltimore) (2017) 0.75
Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: association of variants in OFC1. J Dent Res (2011) 0.75
GFA Taq I polymorphism and cleft lip with or without cleft palate (CL/P) risk. Int J Clin Exp Med (2015) 0.75
New insights from GWAS for the cleft palate among han Chinese population. Med Oral Patol Oral Cir Bucal (2017) 0.75
Gene expression profiling analysis contributes to understanding the association between non-syndromic cleft lip and palate, and cancer. Mol Med Rep (2016) 0.75
Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data. Genom Data (2016) 0.75
Risk prediction models for oral clefts allowing for phenotypic heterogeneity. Front Genet (2015) 0.75
Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population. Birth Defects Res A Clin Mol Teratol (2015) 0.75
Validation of a genome-wide association study implied that SHTIN1 may involve in the pathogenesis of NSCL/P in Chinese population. Sci Rep (2016) 0.75
Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†. Hum Mol Genet (2016) 0.75
PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients. DNA Cell Biol (2012) 0.75
Genome-wide association studies: prospects and challenges for oral health. J Dent Res (2012) 0.75
Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios. Am J Med Genet A (2017) 0.75
Sequence variation in folate pathway genes and risks of human cleft lip with or without cleft palate. Am J Med Genet A (2016) 0.75
A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts. J Dent Res (2017) 0.75
Influence of common and rare genetic variation on warfarin dose among African-Americans and European-Americans using the exome array. Pharmacogenomics (2017) 0.75
Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing. Birth Defects Res (2017) 0.75
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Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet (2009) 3.58
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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet (2005) 2.52
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet (2009) 2.07
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Stage-dependent craniofacial defects resulting from Sprouty2 overexpression. Dev Dyn (2007) 1.21
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Genomewide association analysis of coronary artery disease. N Engl J Med (2007) 24.38
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet (2010) 17.38
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature (2012) 16.13
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet (2006) 15.14
A common genetic variant is associated with adult and childhood obesity. Science (2006) 14.95
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron (2004) 14.35
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
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Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet (2008) 12.32
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
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Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
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Common variants conferring risk of schizophrenia. Nature (2009) 10.37
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
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Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet (2011) 7.98
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Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat Genet (2008) 6.75
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet (2005) 6.36
A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry (2012) 6.34
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet (2008) 6.26
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
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New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
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New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet (2009) 5.12
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