Published in Am J Med Genet A on December 15, 2007
Risk of oral clefts in twins. Epidemiology (2011) 1.18
Physical manifestations of neurodevelopmental disruption: are minor physical anomalies part of the syndrome of schizophrenia? Schizophr Bull (2008) 1.02
Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936-2004 cleft twin cohort. Am J Med Genet A (2010) 0.87
Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts. Eur J Hum Genet (2011) 0.83
Skewed X inactivation and IVF-conceived infants. Reprod Biomed Online (2010) 0.75
Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate. Cleft Palate Craniofac J (2016) 0.75
Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status. Stem Cells Int (2017) 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
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet (1999) 3.25
Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet (1996) 3.12
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet (2003) 2.72
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet (2005) 2.52
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet (2002) 2.33
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet (2006) 2.33
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet (1999) 2.12
Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet (2000) 2.08
Mode of inheritance of nonsyndromic cleft lip with or without cleft palate: a reanalysis. Am J Hum Genet (1992) 1.66
Commitment to X inactivation precedes the twinning event in monochorionic MZ twins. Am J Hum Genet (1998) 1.61
Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet (2000) 1.54
Cleft lip and palate versus cleft lip only: are they distinct defects? Am J Epidemiol (2005) 1.53
Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr (2005) 1.48
The dynamics of X-inactivation skewing as women age. Clin Genet (2004) 1.37
TBX22 mutations are a frequent cause of cleft palate. J Med Genet (2004) 1.30
The causes and consequences of random and non-random X chromosome inactivation in humans. Clin Genet (2000) 1.24
Twin study of genetic and aging effects on X chromosome inactivation. Eur J Hum Genet (2005) 1.21
Evidence of a sex-dependent association between the MSX1 locus and nonsyndromic cleft lip with or without cleft palate in the Chilean population. Hum Biol (2001) 1.15
X-chromosome inactivation and human genetic disease. Acta Paediatr Suppl (2002) 1.14
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency. Am J Hum Genet (1992) 1.06
Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits. Twin Res Hum Genet (2005) 1.04
Prenatal craniofacial development: new insights on normal and abnormal mechanisms. Crit Rev Oral Biol Med (1995) 1.02
Sexual differences in closure of the human palatal shelves. Cleft Palate J (1969) 0.93
Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. Am J Med Genet (1994) 0.87
The relation of sex-associated facial profile reversal and stages of human palatal closure. Teratology (1969) 0.83
Variations in genome-wide gene expression in identical twins - a study of primary osteoblast-like culture from female twins discordant for osteoporosis. BMC Genet (2004) 0.82
X inactivation as a source of behavioural differences in monozygotic female twins. Twin Res (2004) 0.82
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
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat Genet (2011) 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
Smoking habits, nicotine use, and congenital malformations. Obstet Gynecol (2006) 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
Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci. PLoS Genet (2007) 3.47
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
Genetic influence on human lifespan and longevity. Hum Genet (2006) 3.27
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet (2006) 3.14
Geographical structure and differential natural selection among North European populations. Genome Res (2009) 3.03
Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci U S A (2007) 2.94
Telomere length and mortality: a study of leukocytes in elderly Danish twins. Am J Epidemiol (2008) 2.85
Predictors of mortality in 2,249 nonagenarians--the Danish 1905-Cohort Survey. J Am Geriatr Soc (2003) 2.79
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
The Danish Twin Registry: 127 birth cohorts of twins. Twin Res (2002) 2.53
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
Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited. Aging Cell (2011) 2.37
No association between telomere length and survival among the elderly and oldest old. Epidemiology (2006) 2.33
Men: good health and high mortality. Sex differences in health and aging. Aging Clin Exp Res (2008) 2.33
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
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
Age- and sex-differences in the validity of questionnaire-based zygosity in twins. Twin Res (2003) 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
Risk of suicide in twins: 51 year follow up study. BMJ (2003) 2.08
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
Apolipoprotein e genotypes: relationship to cognitive functioning, cognitive decline, and survival in nonagenarians. J Am Geriatr Soc (2006) 2.02
Age trajectories of grip strength: cross-sectional and longitudinal data among 8,342 Danes aged 46 to 102. Ann Epidemiol (2006) 1.97
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
Selective serotonin reuptake inhibitors and the risk of stroke: a population-based case-control study. Stroke (2002) 1.86
Association between height and coronary heart disease mortality: a prospective study of 35,000 twin pairs. Am J Epidemiol (2006) 1.85
Study protocol of the Center for Oral Health Research in Appalachia (COHRA) etiology study. BMC Oral Health (2008) 1.85
Replication of an association of variation in the FOXO3A gene with human longevity using both case-control and longitudinal data. Aging Cell (2010) 1.84
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
A family longevity selection score: ranking sibships by their longevity, size, and availability for study. Am J Epidemiol (2009) 1.81
Offspring's leukocyte telomere length, paternal age, and telomere elongation in sperm. PLoS Genet (2008) 1.80
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. Hum Mol Genet (2012) 1.77
'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
Health and function of participants in the Long Life Family Study: A comparison with other cohorts. Aging (Albany NY) (2011) 1.74
Risk of stroke associated with nonsteroidal anti-inflammatory drugs: a nested case-control study. Stroke (2003) 1.74
Heritability of insulin secretion, peripheral and hepatic insulin action, and intracellular glucose partitioning in young and old Danish twins. Diabetes (2005) 1.73
Social activity and healthy aging: a study of aging Danish twins. Twin Res Hum Genet (2007) 1.73
Genetic liability in stroke: a long-term follow-up study of Danish twins. Stroke (2002) 1.72
Informed consent and genomic incidental findings: IRB chair perspectives. J Empir Res Hum Res Ethics (2011) 1.72
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
Longevity studies in GenomEUtwin. Twin Res (2003) 1.66