Published in Am J Med Genet on February 15, 2002
Genetics of nonsyndromic orofacial clefts. Cleft Palate Craniofac J (2011) 1.27
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. Eur J Pediatr (2004) 1.18
Contributions of PTCH gene variants to isolated cleft lip and palate. Cleft Palate Craniofac J (2006) 1.16
Three-dimensional morphometric analysis of brain shape in nonsyndromic orofacial clefting. J Anat (2009) 0.98
Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate. Eur J Hum Genet (2008) 0.88
Palatogenesis and cutaneous repair: A two-headed coin. Dev Dyn (2014) 0.76
Tooth agenesis and orofacial clefting: genetic brothers in arms? Hum Genet (2016) 0.75
Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation. Cleft Palate Craniofac J (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
Dupilumab in persistent asthma with elevated eosinophil levels. N Engl J Med (2013) 5.29
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
Prevalence of dental anomalies in nonsyndromic individuals with cleft lip and palate: a systematic review and meta-analysis. Cleft Palate Craniofac J (2011) 3.24
Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A (2007) 2.94
A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers. Development (2006) 2.90
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet (2005) 2.52
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet (2002) 2.49
Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects. Am J Med Genet (2002) 2.45
Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet A (2004) 2.10
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet (2009) 2.07
Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet (2002) 2.02
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A (2003) 1.98
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet (2005) 1.89
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Dupilumab treatment in adults with moderate-to-severe atopic dermatitis. N Engl J Med (2014) 1.82
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet (2002) 1.80
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
Tobacco use and secondhand smoke exposure during pregnancy: an investigative survey of women in 9 developing nations. Am J Public Health (2008) 1.65
Adverse birth outcome among mothers with low serum cholesterol. Pediatrics (2007) 1.58
The molecular genetics of holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.57
Diagnosis and management of fragile X syndrome. Am Fam Physician (2005) 1.57
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A (2003) 1.54
Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.51
Cbfbeta interacts with Runx2 and has a critical role in bone development. Nat Genet (2002) 1.50
Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11. Am J Hum Genet (2004) 1.49
Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 1.48
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein. Nat Genet (2008) 1.45
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. Am J Med Genet A (2011) 1.44
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A (2011) 1.43
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet (2008) 1.43
Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med (2004) 1.39
The impact of altitude on infant health in South America. Econ Hum Biol (2010) 1.38
Quantile effects of prenatal care utilization on birth weight in Argentina. Health Econ (2009) 1.37
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet (2002) 1.36
Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile. Am J Med Genet A (2005) 1.34
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A (2008) 1.32
Gastroschisis and associated defects: an international study. Am J Med Genet A (2007) 1.30
The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly. Am J Med Genet (2002) 1.28
Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries. Am J Med Genet A (2010) 1.26
Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate. Am J Med Genet A (2009) 1.26
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors. Am J Hum Genet (2011) 1.25
Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America. Am J Med Genet A (2007) 1.25
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol (2012) 1.24
Enamel formation genes influence enamel microhardness before and after cariogenic challenge. PLoS One (2012) 1.24
Prenatal care effectiveness and utilization in Brazil. Health Policy Plan (2009) 1.24
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. Am J Med Genet A (2006) 1.24
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat (2009) 1.23
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet (2010) 1.23
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab (2009) 1.21
Quantification of cerebral cannabinoid receptors subtype 1 (CB1) in healthy subjects and schizophrenia by the novel PET radioligand [11C]OMAR. Neuroimage (2010) 1.19
Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Hum Mol Genet (2008) 1.19
Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations. Birth Defects Res A Clin Mol Teratol (2008) 1.18
Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A (2005) 1.17
Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions. J Am Acad Child Adolesc Psychiatry (2008) 1.17
Prenatal care demand and its effects on birth outcomes by birth defect status in Argentina. Econ Hum Biol (2008) 1.16
Epidemiology of holoprosencephaly: Prevalence and risk factors. Am J Med Genet C Semin Med Genet (2010) 1.15
Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases. Am J Med Genet A (2008) 1.13
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci. Biol Psychiatry (2006) 1.12
Clusters of sirenomelia in South America. Birth Defects Res A Clin Mol Teratol (2009) 1.11
Racial gaps in child health insurance coverage in four South American countries: the role of wealth, human capital, and other household characteristics. Health Serv Res (2011) 1.11
The Impact of Maternal Smoking during Pregnancy on Early Child Neurodevelopment. J Hum Cap (2011) 1.10
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet (2009) 1.10
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects. Hum Genet (2002) 1.09
The incidence of gastroschisis: research urgently needs resources. BMJ (2006) 1.08
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A (2007) 1.07
Genetic variation in myosin 1H contributes to mandibular prognathism. Am J Orthod Dentofacial Orthop (2012) 1.07
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet (2010) 1.06
Multiple annotations for GCPII in the htgs database. Am J Med Genet A (2003) 1.06
Genome-wide association scan of dental caries in the permanent dentition. BMC Oral Health (2012) 1.06
A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A (2009) 1.05
Fetal alcohol spectrum disorders. Am Fam Physician (2005) 1.04
How a Hedgehog might see holoprosencephaly. Hum Mol Genet (2003) 1.03
Position and course of the mandibular canal in skulls. Oral Surg Oral Med Oral Pathol Oral Radiol (2012) 1.03
Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects. J Pediatr Psychol (2006) 1.03
Functional analysis of mutations in TGIF associated with holoprosencephaly. Mol Genet Metab (2006) 1.02
Studies with Wnt genes and nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol (2010) 1.02
Genes expressed in dental enamel development are associated with molar-incisor hypomineralization. Arch Oral Biol (2013) 1.02
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. Am J Med Genet A (2009) 1.02
Holoprosencephaly: recommendations for diagnosis and management. Curr Opin Pediatr (2010) 1.02
Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. Am J Med Genet A (2010) 1.01
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. Am J Med Genet C Semin Med Genet (2010) 1.01
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans. Hum Genet (2009) 1.01
Review: Genetics of attention deficit/hyperactivity disorder. J Pediatr Psychol (2008) 1.00
Explaining racial disparities in infant health in Brazil. Am J Public Health (2013) 1.00
Explaining gender differences in caries: a multifactorial approach to a multifactorial disease. Int J Dent (2010) 0.99
The Impact of Household Investments on Early Child Neurodevelopment and on Racial and Socioeconomic Developmental Gaps - Evidence from South America. Forum Health Econ Policy (2012) 0.99
The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P. Eur J Hum Genet (2008) 0.99
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH. Hum Genet (2011) 0.98
AXIN2 and CDH1 polymorphisms, tooth agenesis, and oral clefts. Birth Defects Res A Clin Mol Teratol (2009) 0.98