Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
|
Nat Genet
|
2002
|
6.29
|
2
|
Maternal periconceptional vitamins: interactions with selected factors and congenital anomalies?
|
Epidemiology
|
2002
|
1.93
|
3
|
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
|
BMC Med Genet
|
2009
|
1.74
|
4
|
Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts.
|
Epidemiology
|
2007
|
1.67
|
5
|
NAT2 variation and idiopathic talipes equinovarus (clubfoot).
|
Am J Med Genet A
|
2007
|
1.57
|
6
|
Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004.
|
Am J Med Genet A
|
2009
|
1.55
|
7
|
Schizencephaly: heterogeneous etiologies in a population of 4 million California births.
|
Am J Med Genet A
|
2005
|
1.55
|
8
|
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.
|
Hum Mol Genet
|
2009
|
1.55
|
9
|
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.
|
Am J Med Genet A
|
2013
|
1.48
|
10
|
Diacylglycerol kinase K variants impact hypospadias in a California study population.
|
J Urol
|
2012
|
1.43
|
11
|
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
|
Am J Hum Genet
|
2012
|
1.39
|
12
|
Maternal corticosteroid use and orofacial clefts.
|
Am J Obstet Gynecol
|
2007
|
1.34
|
13
|
Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects.
|
Mol Genet Metab
|
2003
|
1.25
|
14
|
Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis.
|
Birth Defects Res A Clin Mol Teratol
|
2006
|
1.25
|
15
|
Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development.
|
Pediatrics
|
2006
|
1.24
|
16
|
Comprehensive EMX2 genotyping of a large schizencephaly case series.
|
Am J Med Genet A
|
2007
|
1.22
|
17
|
Integration of DNA sample collection into a multi-site birth defects case-control study.
|
Teratology
|
2002
|
1.22
|
18
|
Association between a leukotriene C4 synthase gene promoter polymorphism and coronary artery calcium in young women: the Muscatine Study.
|
Arterioscler Thromb Vasc Biol
|
2006
|
1.19
|
19
|
Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.
|
Am J Med Genet A
|
2005
|
1.18
|
20
|
Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence.
|
Birth Defects Res A Clin Mol Teratol
|
2012
|
1.17
|
21
|
Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida.
|
Am J Med Genet
|
2002
|
1.17
|
22
|
Maternal periconceptional smoking and alcohol consumption and risk for select congenital anomalies.
|
Birth Defects Res A Clin Mol Teratol
|
2008
|
1.15
|
23
|
Maternal reproductive and demographic characteristics as risk factors for hypospadias.
|
Paediatr Perinat Epidemiol
|
2007
|
1.13
|
24
|
Embryonic development of folate binding protein-1 (Folbp1) knockout mice: Effects of the chemical form, dose, and timing of maternal folate supplementation.
|
Dev Dyn
|
2004
|
1.10
|
25
|
Maternal stressful life events and risks of birth defects.
|
Epidemiology
|
2007
|
1.06
|
26
|
Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts?
|
Am J Med Genet A
|
2005
|
1.04
|
27
|
Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts.
|
Am J Epidemiol
|
2005
|
1.04
|
28
|
Maternal progestin intake and risk of hypospadias.
|
Arch Pediatr Adolesc Med
|
2005
|
1.04
|
29
|
Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997.
|
Am J Med Genet A
|
2005
|
1.04
|
30
|
Autoantibodies to folate receptor during pregnancy and neural tube defect risk.
|
J Reprod Immunol
|
2008
|
1.03
|
31
|
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.
|
Am J Med Genet A
|
2007
|
1.01
|
32
|
Maternal occupational exposure to polycyclic aromatic hydrocarbons and risk of neural tube defect-affected pregnancies.
|
Birth Defects Res A Clin Mol Teratol
|
2012
|
1.00
|
33
|
Fetal constraint as a potential risk factor for craniosynostosis.
|
Am J Med Genet A
|
2010
|
1.00
|
34
|
Associations between polymorphisms within the thymidylate synthase gene and spina bifida.
|
Birth Defects Res A Clin Mol Teratol
|
2003
|
0.99
|
35
|
Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects.
|
Am J Epidemiol
|
2003
|
0.98
|
36
|
A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.
|
PLoS One
|
2011
|
0.96
|
37
|
Maternal and infant gene-folate interactions and the risk of neural tube defects.
|
Am J Med Genet A
|
2012
|
0.95
|
38
|
Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft.
|
Am J Med Genet A
|
2008
|
0.94
|
39
|
Maternal occupational chemical exposures and biotransformation genotypes as risk factors for selected congenital anomalies.
|
Am J Epidemiol
|
2003
|
0.93
|
40
|
Gene-nutrient interactions: importance of folates and retinoids during early embryogenesis.
|
Toxicol Appl Pharmacol
|
2004
|
0.92
|
41
|
Hypospadias and residential proximity to pesticide applications.
|
Pediatrics
|
2013
|
0.91
|
42
|
Craniosynostosis and nutrient intake during pregnancy.
|
Birth Defects Res A Clin Mol Teratol
|
2010
|
0.88
|
43
|
Screening for novel PAX3 polymorphisms and risks of spina bifida.
|
Birth Defects Res A Clin Mol Teratol
|
2007
|
0.88
|
44
|
Craniosynostosis and maternal smoking.
|
Birth Defects Res A Clin Mol Teratol
|
2008
|
0.88
|
45
|
Phosphatidylethanolamine N-methyltransferase (PEMT) gene polymorphisms and risk of spina bifida.
|
Am J Med Genet A
|
2006
|
0.87
|
46
|
Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects.
|
Mol Genet Metab
|
2004
|
0.87
|
47
|
Maternal periconceptional alcohol consumption and risk for conotruncal heart defects.
|
Birth Defects Res A Clin Mol Teratol
|
2003
|
0.86
|
48
|
Hypospadias and genes related to genital tubercle and early urethral development.
|
J Urol
|
2013
|
0.85
|
49
|
Periconceptional nutrient intakes and risks of conotruncal heart defects.
|
Birth Defects Res A Clin Mol Teratol
|
2010
|
0.85
|
50
|
CHKA and PCYT1A gene polymorphisms, choline intake and spina bifida risk in a California population.
|
BMC Med
|
2006
|
0.85
|
51
|
Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations.
|
Cleft Palate Craniofac J
|
2004
|
0.84
|
52
|
Candidate gene polymorphisms do not differ between newborns with stroke and normal controls.
|
Stroke
|
2006
|
0.84
|
53
|
Hypospadias and maternal exposures to cigarette smoke.
|
Paediatr Perinat Epidemiol
|
2005
|
0.84
|
54
|
Maternal occupational exposure to polycyclic aromatic hydrocarbons and risk of oral cleft-affected pregnancies.
|
Cleft Palate Craniofac J
|
2012
|
0.84
|
55
|
Thymidylate synthase polymorphisms and risks of human orofacial clefts.
|
Birth Defects Res A Clin Mol Teratol
|
2013
|
0.83
|
56
|
Planar cell polarity pathway genes and risk for spina bifida.
|
Am J Med Genet A
|
2010
|
0.83
|
57
|
Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation.
|
Am J Med Genet A
|
2006
|
0.83
|
58
|
Maternal smoking during early pregnancy, GSTP1 and EPHX1 variants, and risk of isolated orofacial clefts.
|
Cleft Palate Craniofac J
|
2007
|
0.83
|
59
|
Congenital malformations in births with orofacial clefts among 3.6 million California births, 1983-1997.
|
Am J Med Genet A
|
2004
|
0.83
|
60
|
Risk factors for neural tube defects: associations between uncoupling protein 2 polymorphisms and spina bifida.
|
Birth Defects Res A Clin Mol Teratol
|
2003
|
0.83
|
61
|
Autosomal recessive frontotemporal pachygyria.
|
Am J Med Genet A
|
2004
|
0.83
|
62
|
Evaluation of the Cited2 gene and risk for spina bifida and congenital heart defects.
|
Am J Med Genet A
|
2004
|
0.82
|
63
|
A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.
|
Mol Genet Metab
|
2005
|
0.82
|
64
|
Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.
|
Am J Med Genet A
|
2012
|
0.81
|
65
|
Association between CFL1 gene polymorphisms and spina bifida risk in a California population.
|
BMC Med Genet
|
2007
|
0.81
|
66
|
Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects.
|
Am J Med Genet A
|
2004
|
0.81
|
67
|
Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense?
|
Genet Test
|
2002
|
0.80
|
68
|
Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects.
|
Birth Defects Res A Clin Mol Teratol
|
2003
|
0.80
|
69
|
Corticosteroid use and risk of orofacial clefts.
|
Birth Defects Res A Clin Mol Teratol
|
2014
|
0.79
|
70
|
One-carbon metabolite levels in mid-pregnancy and risks of conotruncal heart defects.
|
Birth Defects Res A Clin Mol Teratol
|
2014
|
0.79
|
71
|
Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study.
|
BMC Med Genet
|
2010
|
0.79
|
72
|
Limb deficiency defects, MSX1, and exposure to tobacco smoke.
|
Am J Med Genet A
|
2004
|
0.79
|
73
|
Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes.
|
Birth Defects Res A Clin Mol Teratol
|
2010
|
0.79
|
74
|
Genes encoding catalytic subunits of protein kinase A and risk of spina bifida.
|
Birth Defects Res A Clin Mol Teratol
|
2005
|
0.78
|
75
|
Genetic polymorphisms in the thioredoxin 2 (TXN2) gene and risk for spina bifida.
|
Am J Med Genet A
|
2009
|
0.78
|
76
|
Gene-nutrient interactions: importance of folic acid and vitamin B12 during early embryogenesis.
|
Food Nutr Bull
|
2008
|
0.78
|
77
|
Association between 49 infant gene polymorphisms and preterm delivery.
|
Am J Med Genet A
|
2007
|
0.77
|
78
|
Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida.
|
Birth Defects Res A Clin Mol Teratol
|
2008
|
0.76
|
79
|
Apolipoprotein E and apolipoprotein B genotypes and risk for spina bifida.
|
Teratology
|
2002
|
0.76
|
80
|
Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations.
|
Am J Med Genet A
|
2003
|
0.76
|
81
|
Thymidylate synthase polymorphisms and risk of conotruncal heart defects.
|
Am J Med Genet A
|
2012
|
0.76
|
82
|
Genetic variation in the proto-oncogene SKI and risk for orofacial clefting.
|
Mol Genet Metab
|
2005
|
0.75
|
83
|
Is Sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot study.
|
Am J Med Genet A
|
2003
|
0.75
|
84
|
The READIT assay as a method for genotyping NAT1*10 polymorphisms.
|
Genet Test
|
2002
|
0.75
|
85
|
Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: a case control study of genetic factors.
|
Am J Med Genet A
|
2013
|
0.75
|
86
|
Nutrient intakes in women and risks of anophthalmia and microphthalmia in their offspring.
|
Birth Defects Res A Clin Mol Teratol
|
2007
|
0.75
|
87
|
Apolipoprotein B and apolipoprotein E genotypes and sporadic holoprosencephaly.
|
Am J Med Genet
|
2002
|
0.75
|