Published in Genet Med on September 09, 2004
Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A (2007) 2.94
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet (2005) 2.52
Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev (2005) 2.27
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. J Clin Invest (2010) 1.67
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet (2009) 1.55
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. Hum Mol Genet (2008) 1.50
Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr (2005) 1.48
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum Mol Genet (2008) 1.39
Genetics of nonsyndromic orofacial clefts. Cleft Palate Craniofac J (2011) 1.27
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am J Med Genet A (2006) 1.24
Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Genet Med (2008) 1.23
Contributions of PTCH gene variants to isolated cleft lip and palate. Cleft Palate Craniofac J (2006) 1.16
A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet (2006) 1.16
Genetic Factors and Orofacial Clefting. Semin Orthod (2008) 1.05
Domain duplication, divergence, and loss events in vertebrate Msx paralogs reveal phylogenomically informed disease markers. BMC Evol Biol (2009) 0.98
Current concepts in genetics of nonsyndromic clefts. Indian J Plast Surg (2009) 0.98
Genetic studies in the Nigerian population implicate an MSX1 mutation in complex oral facial clefting disorders. Cleft Palate Craniofac J (2011) 0.98
MSX1 and orofacial clefting with and without tooth agenesis. J Dent Res (2006) 0.96
Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate. Clin Genet (2012) 0.95
A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. Am J Med Genet A (2007) 0.94
Molecular signaling along the anterior-posterior axis of early palate development. Front Physiol (2013) 0.86
Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34. Am J Hum Genet (2006) 0.86
Roles of BMP signaling pathway in lip and palate development. Front Oral Biol (2012) 0.86
Characterization of novel MSX1 mutations identified in Japanese patients with nonsyndromic tooth agenesis. PLoS One (2014) 0.81
Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia. Eur J Hum Genet (2011) 0.80
Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection. Birth Defects Res A Clin Mol Teratol (2010) 0.79
Association between MSX1 SNPs and nonsyndromic cleft lip with or without cleft palate in the Korean population. J Korean Med Sci (2013) 0.78
BMP7 Gene involved in nonsyndromic orofacial clefts in Western han Chinese. Med Oral Patol Oral Cir Bucal (2015) 0.78
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. Hum Genet (2015) 0.77
Genomic expression in non syndromic cleft lip and palate patients: A review. J Oral Biol Craniofac Res (2015) 0.76
Wnt/β-catenin signaling and Msx1 promote outgrowth of the maxillary prominences. Front Physiol (2012) 0.76
MSX1 mutations and associated disease phenotypes: genotype-phenotype relations. Eur J Hum Genet (2016) 0.75
The control and importance of hyaluronan synthase expression in palatogenesis. Front Physiol (2013) 0.75
Genetics and genomics etiology of nonsyndromic orofacial clefts. Mol Genet Genomic Med (2017) 0.75
Genetic significance of muscle segment homeo box1 gene in South Indian population for cleft lip and palate. Indian J Hum Genet (2012) 0.75
Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development. Sci Rep (2016) 0.75
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med (2004) 7.91
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
A QTL for rice grain width and weight encodes a previously unknown RING-type E3 ubiquitin ligase. Nat Genet (2007) 5.70
Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumor. Cell (2012) 5.62
Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet (2011) 5.41
The PhenX Toolkit: get the most from your measures. Am J Epidemiol (2011) 4.19
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet (2008) 4.04
Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med (2012) 3.94
What genome-wide association studies can do for medicine. N Engl J Med (2007) 3.80
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat Genet (2011) 3.68
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
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
DJ-1 and alpha-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's disease. Brain (2010) 3.57
The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. Genet Epidemiol (2010) 3.48
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet (2006) 3.14
Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A (2007) 2.94
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet (2004) 2.65
Academic performance in adolescence after inguinal hernia repair in infancy: a nationwide cohort study. Anesthesiology (2011) 2.64
Between-hospital variation in treatment and outcomes in extremely preterm infants. N Engl J Med (2015) 2.59
Active choice but not too active: public perspectives on biobank consent models. Genet Med (2011) 2.57
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet (2005) 2.52
Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects. Am J Med Genet (2002) 2.45
mdmx is a negative regulator of p53 activity in vivo. Cancer Res (2002) 2.40
A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet (2006) 2.29
Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev (2005) 2.27
Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children. PLoS Genet (2009) 2.27
Anthropometric precision and accuracy of digital three-dimensional photogrammetry: comparing the Genex and 3dMD imaging systems with one another and with direct anthropometry. J Craniofac Surg (2006) 2.25
Long term follow up study of survival associated with cleft lip and palate at birth. BMJ (2004) 2.19
MECT1-MAML2 fusion transcript defines a favorable subset of mucoepidermoid carcinoma. Clin Cancer Res (2006) 2.19
Genetic control of rice plant architecture under domestication. Nat Genet (2008) 2.17
The FaceBase Consortium: a comprehensive program to facilitate craniofacial research. Dev Biol (2011) 2.16
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet (2012) 2.15
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet (2009) 2.07
A previously unknown zinc finger protein, DST, regulates drought and salt tolerance in rice via stomatal aperture control. Genes Dev (2009) 2.04
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet (2002) 2.04
A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance. J Med Genet (2009) 1.89
A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling. Nat Genet (2004) 1.87
Study protocol of the Center for Oral Health Research in Appalachia (COHRA) etiology study. BMC Oral Health (2008) 1.85
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet (2011) 1.84
Integrated profiling of microRNAs and mRNAs: microRNAs located on Xq27.3 associate with clear cell renal cell carcinoma. PLoS One (2010) 1.82
Cancer risk in persons with oral cleft--a population-based study of 8,093 cases. Am J Epidemiol (2005) 1.82
'Mendelian randomization' equals instrumental variable analysis with genetic instruments. Stat Med (2008) 1.77
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A (2003) 1.74
CSF Aβ(42) and tau in Parkinson's disease with cognitive impairment. Mov Disord (2010) 1.71
Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum Hered (2009) 1.71
Maternal serum 25-hydroxyvitamin D concentrations are associated with small-for-gestational age births in white women. J Nutr (2010) 1.64
Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res (2004) 1.64
Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Genet Epidemiol (2008) 1.63
Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects. Birth Defects Res C Embryo Today (2008) 1.60
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nat Genet (2011) 1.60
Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. Am J Hum Genet (2006) 1.59
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Ophthalmology (2004) 1.58
Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia. PLoS One (2009) 1.56
Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004. Am J Med Genet A (2009) 1.55
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet (2009) 1.55
The Pittsburgh Fistula Classification System: a standardized scheme for the description of palatal fistulas. Cleft Palate Craniofac J (2007) 1.54
The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification. Cleft Palate Craniofac J (2006) 1.54
SNCA variant associated with Parkinson disease and plasma alpha-synuclein level. Arch Neurol (2010) 1.54
Neurodegenerative central nervous system Langerhans cell histiocytosis and coincident hydrocephalus treated with vincristine/cytosine arabinoside. Pediatr Blood Cancer (2010) 1.54
Salivary α-synuclein and DJ-1: potential biomarkers for Parkinson's disease. Brain (2011) 1.53
Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth. Pediatr Res (2007) 1.53
Comparative mitogenomics of Braconidae (Insecta: Hymenoptera) and the phylogenetic utility of mitochondrial genomes with special reference to Holometabolous insects. BMC Genomics (2010) 1.48
Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate. Am J Med Genet A (2010) 1.48
Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate. Am J Med Genet A (2007) 1.48
Hindbrain chemical mediators of reflex-induced inhibition of gastric tone produced by esophageal distension and intravenous nicotine. Am J Physiol Regul Integr Comp Physiol (2005) 1.47
Chemical fixation of carbon dioxide catalyzed by binaphthyldiamino Zn, Cu, and Co salen-type complexes. J Org Chem (2003) 1.47
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genet Epidemiol (2011) 1.47