Published in J Genet Couns on January 21, 2012
Quality of family history collection with use of a patient facing family history assessment tool. BMC Fam Pract (2014) 0.80
Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer. Fam Cancer (2016) 0.79
Providing patient education: impact on quantity and quality of family health history collection. Fam Cancer (2014) 0.78
Community-Based Family Health History Education: The Role of State Health Agencies in Engaging Medically Underserved Populations in Understanding Genomics and Risk of Chronic Disease. Healthcare (Basel) (2015) 0.75
Supporting genetics in primary care: investigating how theory can inform professional education. Eur J Hum Genet (2016) 0.75
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet (2009) 2.89
A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns (2006) 2.73
Traditional risk factors are not major contributors to the variance in carotid intima-media thickness. Stroke (2013) 2.34
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.26
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med (2003) 2.00
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet (2011) 1.66
NAT2 variation and idiopathic talipes equinovarus (clubfoot). Am J Med Genet A (2007) 1.57
Follow-up association study of linkage regions reveals multiple candidate genes for carotid plaque in Dominicans. Atherosclerosis (2012) 1.47
Primary care physicians' awareness, experience and opinions of direct-to-consumer genetic testing. J Genet Couns (2011) 1.42
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Hum Mol Genet (2008) 1.39
CRISPLD2: a novel NSCLP candidate gene. Hum Mol Genet (2007) 1.32
Heritability and linkage analysis for carotid intima-media thickness: the family study of stroke risk and carotid atherosclerosis. Stroke (2009) 1.24
Arthropod nuclear receptors and their role in molting. FEBS J (2009) 1.23
Cell-autonomous roles of the ecdysoneless gene in Drosophila development and oogenesis. Development (2004) 1.21
Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system. BMC Health Serv Res (2011) 1.18
A homozygous mutation in LTBP2 causes isolated microspherophakia. Hum Genet (2010) 1.15
A novel ecdysone receptor mediates steroid-regulated developmental events during the mid-third instar of Drosophila. PLoS Genet (2008) 1.14
Traditional cardiovascular risk factors explain the minority of the variability in carotid plaque. Stroke (2012) 1.13
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet (2010) 1.11
Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot). Clin Orthop Relat Res (2007) 1.10
Development and validation of a primary care-based family health history and decision support program (MeTree). N C Med J (2013) 1.07
Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI. Circ Cardiovasc Genet (2015) 1.03
Educational needs of primary care physicians regarding direct-to-consumer genetic testing. J Genet Couns (2011) 1.00
A Community's Awareness and Perceptions of Genomic Medicine. Public Health Genomics (2009) 1.00
Association of the sirtuin and mitochondrial uncoupling protein genes with carotid plaque. PLoS One (2011) 1.00
Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. Stroke (2010) 0.98
Genetic causes of nonsyndromic cleft lip with or without cleft palate. Adv Otorhinolaryngol (2011) 0.98
Variation in CASP10 gene is associated with idiopathic talipes equinovarus. J Pediatr Orthop (2005) 0.98
Prevalence of noise-induced hearing loss in student musicians. Int J Audiol (2010) 0.98
Fine mapping study reveals novel candidate genes for carotid intima-media thickness in Dominican Republican families. Circ Cardiovasc Genet (2012) 0.98
A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. Am J Hum Genet (2008) 0.95
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol (2014) 0.93
Next-generation sequencing in genetic hearing loss. Genet Test Mol Biomarkers (2013) 0.93
A candidate gene study revealed sex-specific association between the OLR1 gene and carotid plaque. Stroke (2011) 0.92
Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics. J Lipid Res (2011) 0.92
Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. Am J Med Genet A (2009) 0.91
Patient and primary care provider experience using a family health history collection, risk stratification, and clinical decision support tool: a type 2 hybrid controlled implementation-effectiveness trial. BMC Fam Pract (2013) 0.91
Genome-wide linkage and peak-wide association study of obesity-related quantitative traits in Caribbean Hispanics. Hum Genet (2010) 0.89
Chudley-McCullough syndrome: expanded phenotype and review of the literature. Am J Med Genet A (2003) 0.89
MTHFR is not a risk factor in the development of isolated nonsyndromic cleft lip and palate. Am J Med Genet (2002) 0.89
Proteomic identification of PKC-mediated expression of 20E-induced protein in Drosophila melanogaster. J Proteome Res (2007) 0.88
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
Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care. Genet Med (2010) 0.88
Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand. Am J Med Genet C Semin Med Genet (2014) 0.87
Use of a patient-entered family health history tool with decision support in primary care: impact of identification of increased risk patients on genetic counseling attendance. J Genet Couns (2014) 0.86
Carotid plaque and candidate genes related to inflammation and endothelial function in Hispanics from northern Manhattan. Stroke (2011) 0.86
Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot. Am J Med Genet A (2011) 0.85
Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts. Birth Defects Res A Clin Mol Teratol (2012) 0.84
Association of the sirtuin and mitochondrial uncoupling protein genes with carotid intima-media thickness. Transl Res (2012) 0.83
Genome-wide interaction study identifies RCBTB1 as a modifier for smoking effect on carotid intima-media thickness. Arterioscler Thromb Vasc Biol (2013) 0.83
Innovative Research Design Exploring the Effects of Physical Activity and Genetics on Cognitive Performance in Community-Based Older Adults. J Aging Phys Act (2015) 0.83
Collection of family health history for assessment of chronic disease risk in primary care. N C Med J (2013) 0.83
Ligand binding pocket function of Drosophila USP is necessary for metamorphosis. Gen Comp Endocrinol (2012) 0.82
Genetic linkage of serum homocysteine in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis. Stroke (2010) 0.81
Evidence for a cleft palate only locus on chromosome 4 near MSX1. Am J Med Genet (2002) 0.81
Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate. Am J Med Genet A (2011) 0.81
Association between variations in coagulation system genes and carotid plaque. J Neurol Sci (2012) 0.81
Ligand-induced heterodimerization between the ligand binding domains of the Drosophila ecdysteroid receptor and ultraspiracle. Eur J Biochem (2002) 0.81
Collagen gene variants previously associated with anterior cruciate ligament injury risk are also associated with joint laxity. Sports Health (2012) 0.81
Quality of family history collection with use of a patient facing family history assessment tool. BMC Fam Pract (2014) 0.80
Smoking, the xenobiotic pathway, and clubfoot. Birth Defects Res A Clin Mol Teratol (2010) 0.80
A follow-up study for left ventricular mass on chromosome 12p11 identifies potential candidate genes. BMC Med Genet (2011) 0.80
Novel quantitative trait locus is mapped to chromosome 12p11 for left ventricular mass in Dominican families: the Family Study of Stroke Risk and Carotid Atherosclerosis. BMC Med Genet (2009) 0.80
Education in the genetics of hearing loss: a survey of early hearing detection and intervention programs. Genet Med (2006) 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
Response to letter regarding article, "Traditional risk factors are not major contributors to the variance in carotid intima-media thickness". Stroke (2013) 0.79
Vestibular dysfunction in DFNB1 deafness. Am J Med Genet A (2011) 0.79
A comprehensive genetic study on left atrium size in Caribbean Hispanics identifies potential candidate genes in 17p10. Circ Cardiovasc Genet (2010) 0.78
Characterization of the ligand-binding domain of the ecdysteroid receptor from Drosophila melanogaster. Biol Chem (2003) 0.78
Providing patient education: impact on quantity and quality of family health history collection. Fam Cancer (2014) 0.78
Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate. Birth Defects Res A Clin Mol Teratol (2014) 0.77
Genome-wide association study identifies new disease loci for isolated clubfoot. J Med Genet (2014) 0.77
Properties of ecdysteroid receptors from diverse insect species in a heterologous cell culture system--a basis for screening novel insecticidal candidates. FEBS J (2009) 0.77
The N-terminus of ecdysteroid receptor isoforms and ultraspiracle interacts with different ecdysteroid response elements in a sequence specific manner to modulate transcriptional activity. J Steroid Biochem Mol Biol (2011) 0.76
Ligand control of interaction in vivo between ecdysteroid receptor and ultraspiracle ligand-binding domain. Biochem J (2004) 0.75
Risk for ingestion of toxic substances in children with Prader-Willi syndrome. Am J Med Genet A (2012) 0.75
Primer on genetic counseling. Continuum (Minneap Minn) (2011) 0.75
Functional studies on the ligand-binding domain of Ultraspiracle from Drosophila melanogaster. Biol Chem (2004) 0.75