Published in Am J Med Genet A on January 01, 2007
Complex effects of nucleotide variants in a mammalian cis-regulatory element. Proc Natl Acad Sci U S A (2012) 1.55
Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons. J Neurosci (2008) 1.41
Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). Cleft Palate Craniofac J (2009) 1.41
Application of synthetic photostable retinoids induces novel limb and facial phenotypes during chick embryogenesis in vivo. J Anat (2013) 1.38
A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb. Hum Mol Genet (2008) 1.37
cis-regulatory mutations are a genetic cause of human limb malformations. Dev Dyn (2011) 1.28
Opposing functions of the ETS factor family define Shh spatial expression in limb buds and underlie polydactyly. Dev Cell (2012) 1.16
Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. Genetics (2008) 1.08
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet (2010) 1.03
Preaxial polydactyly: interactions among ETV, TWIST1 and HAND2 control anterior-posterior patterning of the limb. Development (2010) 1.02
The role of homeodomain transcription factors in heritable pituitary disease. Nat Rev Endocrinol (2011) 1.01
Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35). Hum Genet (2010) 0.95
The impact of cis-acting polymorphisms on the human phenotype. Hugo J (2011) 0.91
Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences. Hum Genet (2014) 0.91
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. Hum Mutat (2012) 0.90
Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet (2008) 0.90
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Hum Mutat (2014) 0.87
A statistical framework to predict functional non-coding regions in the human genome through integrated analysis of annotation data. Sci Rep (2015) 0.87
GATA6 is a crucial regulator of Shh in the limb bud. PLoS Genet (2014) 0.87
Hox5 interacts with Plzf to restrict Shh expression in the developing forelimb. Proc Natl Acad Sci U S A (2013) 0.84
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. Eur J Pediatr (2013) 0.81
Alterations to the remote control of Shh gene expression cause congenital abnormalities. Philos Trans R Soc Lond B Biol Sci (2013) 0.81
Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly. Eur J Hum Genet (2008) 0.81
Enhancer alterations in cancer: a source for a cell identity crisis. Genome Med (2014) 0.80
Intriguing balancing selection on the intron 5 region of LMBR1 in human population. PLoS One (2008) 0.77
A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly. Am J Med Genet A (2012) 0.77
Regulation of sex determination in mice by a non-coding genomic region. Genetics (2014) 0.76
An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family. Sci Rep (2016) 0.75
Parallel Evolution of Polydactyly Traits in Chinese and European Chickens. PLoS One (2016) 0.75
IFT56 regulates vertebrate developmental patterning by maintaining IFTB complex integrity and ciliary microtubule architecture. Development (2017) 0.75
Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM). BMC Pediatr (2013) 0.75
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med (2004) 7.91
Frequent mutation of BAP1 in metastasizing uveal melanomas. Science (2010) 7.47
Pathogenesis and therapy of psoriasis. Nature (2007) 6.94
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
Effects of bracing in adolescents with idiopathic scoliosis. N Engl J Med (2013) 6.02
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci. PLoS Genet (2008) 5.85
Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet (2011) 5.41
Radical reduction in the rate of extensive corrective surgery for clubfoot using the Ponseti method. Pediatrics (2004) 4.42
Completing the map of human genetic variation. Nature (2007) 4.38
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
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
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
Direct genomic selection. Nat Methods (2005) 3.61
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet (2003) 3.52
Adolescent idiopathic scoliosis. Lancet (2008) 3.48
Novel mechanisms of T-cell and dendritic cell activation revealed by profiling of psoriasis on the 63,100-element oligonucleotide array. Physiol Genomics (2003) 3.39
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
Oncogenic mutations in GNAQ occur early in uveal melanoma. Invest Ophthalmol Vis Sci (2008) 3.14
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet (2006) 3.14
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet (2002) 3.09
Fairness to all: gender and sex in scientific reporting. Clin Orthop Relat Res (2013) 2.98
Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A (2007) 2.94
Genome-wide association analysis identifies three psoriasis susceptibility loci. Nat Genet (2010) 2.76
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
Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma. Clin Cancer Res (2011) 2.54
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
Association analyses identify six new psoriasis susceptibility loci in the Chinese population. Nat Genet (2010) 2.41
Genomics: guilt by association. Nature (2007) 2.27
Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev (2005) 2.27
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet (2013) 2.20
Long term follow up study of survival associated with cleft lip and palate at birth. BMJ (2004) 2.19
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep (2011) 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
PSORS2 is due to mutations in CARD14. Am J Hum Genet (2012) 2.10
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet (2009) 2.07
Psoriasis vulgaris: cutaneous lymphoid tissue supports T-cell activation and "Type 1" inflammatory gene expression. Trends Immunol (2004) 1.92
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
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis. Am J Hum Genet (2012) 1.88
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet (2011) 1.84
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. Hum Mol Genet (2011) 1.83
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
Treatment of the complex idiopathic clubfoot. Clin Orthop Relat Res (2006) 1.75
Deep sequencing of small RNAs from human skin reveals major alterations in the psoriasis miRNAome. Hum Mol Genet (2011) 1.74
A subset of methylated CpG sites differentiate psoriatic from normal skin. J Invest Dermatol (2011) 1.73
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
Loss of heterozygosity of chromosome 3 detected with single nucleotide polymorphisms is superior to monosomy 3 for predicting metastasis in uveal melanoma. Clin Cancer Res (2007) 1.71
A new dynamic foot abduction orthosis for clubfoot treatment. J Pediatr Orthop (2007) 1.66
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
Multiple Loci within the major histocompatibility complex confer risk of psoriasis. PLoS Genet (2009) 1.58
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
Neurodegenerative central nervous system Langerhans cell histiocytosis and coincident hydrocephalus treated with vincristine/cytosine arabinoside. Pediatr Blood Cancer (2010) 1.54
Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth. Pediatr Res (2007) 1.53
Nonlesional atopic dermatitis skin is characterized by broad terminal differentiation defects and variable immune abnormalities. J Allergy Clin Immunol (2011) 1.50
Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis. J Allergy Clin Immunol (2009) 1.50
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genet Epidemiol (2011) 1.47
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A (2009) 1.47
Maternal contributions to preterm delivery. Am J Epidemiol (2009) 1.46
Association between the tumor necrosis factor locus and the clinical outcome of Leishmania chagasi infection. Infect Immun (2002) 1.46
Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect. J Bone Joint Surg Am (2012) 1.46
Replication of a genome-wide association study of birth weight in preterm neonates. J Pediatr (2011) 1.45
Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model. Birth Defects Res A Clin Mol Teratol (2004) 1.41
Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). Cleft Palate Craniofac J (2009) 1.41
Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. J Bone Joint Surg Am (2008) 1.40
In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet Med (2004) 1.39
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. Nat Genet (2001) 1.39
Psoriasis genetics: breaking the barrier. Trends Genet (2010) 1.38
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet Med (2009) 1.38
Complications of titanium elastic nails for pediatric femoral shaft fractures. J Pediatr Orthop (2003) 1.38
Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR. Hum Genet (2005) 1.37
Quantile effects of prenatal care utilization on birth weight in Argentina. Health Econ (2009) 1.37
New insights into the pathogenesis and genetics of psoriatic arthritis. Nat Clin Pract Rheumatol (2009) 1.35
Design of the Bracing in Adolescent Idiopathic Scoliosis Trial (BrAIST). Spine (Phila Pa 1976) (2013) 1.34
Oral clefts and life style factors--a case-cohort study based on prospective Danish data. Eur J Epidemiol (2007) 1.33
Abdominal obesity, liver fat, and muscle composition in survivors of childhood acute lymphoblastic leukemia. J Clin Endocrinol Metab (2007) 1.32
From cutting to casting: impact and initial barriers to the Ponseti method of clubfoot treatment in China. Iowa Orthop J (2010) 1.31
A new approach to the treatment of congenital vertical talus. J Child Orthop (2007) 1.31
Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. Am J Epidemiol (2003) 1.31
Early results of a new method of treatment for idiopathic congenital vertical talus. J Bone Joint Surg Am (2006) 1.29
Late-onset sepsis in very low birth weight infants from singleton and multiple-gestation births. J Pediatr (2013) 1.29
Genetics of nonsyndromic orofacial clefts. Cleft Palate Craniofac J (2011) 1.27
Association of specific language impairment (SLI) to the region of 7q31. Am J Hum Genet (2003) 1.26
A genetic risk score combining ten psoriasis risk loci improves disease prediction. PLoS One (2011) 1.25
Impact of congenital talipes equinovarus etiology on treatment outcomes. Dev Med Child Neurol (2008) 1.25
Prenatal care effectiveness and utilization in Brazil. Health Policy Plan (2009) 1.24