Published in N Engl J Med on November 25, 2004
A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31
Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol (2008) 5.47
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet (2009) 3.99
Adverse childhood experiences and adult risk factors for age-related disease: depression, inflammation, and clustering of metabolic risk markers. Arch Pediatr Adolesc Med (2009) 3.41
New standards and enhanced utility for family health history information in the electronic health record: an update from the American Health Information Community's Family Health History Multi-Stakeholder Workgroup. J Am Med Inform Assoc (2008) 2.14
Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action. Prev Chronic Dis (2005) 1.84
The HapMap and genome-wide association studies in diagnosis and therapy. Annu Rev Med (2009) 1.83
Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management. Fam Cancer (2007) 1.82
Using a natural language processing system to extract and code family history data from admission reports. AMIA Annu Symp Proc (2006) 1.70
General Cardiovascular Risk Profile identifies advanced coronary artery calcium and is improved by family history: the multiethnic study of atherosclerosis. Circ Cardiovasc Genet (2009) 1.68
Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers. Eur J Hum Genet (2012) 1.62
Incomplete knowledge of the clinical context as a barrier to interpreting incidental genetic research findings. Am J Bioeth (2013) 1.48
Comparison of family history and SNPs for predicting risk of complex disease. PLoS Genet (2012) 1.47
Development and evaluation of a brief self-completed family history screening tool for common chronic disease prevention in primary care. Br J Gen Pract (2013) 1.45
Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives. BMC Fam Pract (2011) 1.37
Evaluation of family history information within clinical documents and adequacy of HL7 clinical statement and clinical genomics family history models for its representation: a case report. J Am Med Inform Assoc (2010) 1.37
Genetic assessment of breast cancer risk in primary care practice. Am J Med Genet A (2009) 1.35
Identification and extraction of family history information from clinical reports. AMIA Annu Symp Proc (2008) 1.34
Age differences in genetic knowledge, health literacy and causal beliefs for health conditions. Public Health Genomics (2010) 1.32
Validation of My Family Health Portrait for six common heritable conditions. Genet Med (2010) 1.31
New phosphate langbeinites, K2MTi(PO4)3 (M = Er, Yb or Y), and an alternative description of the langbeinite framework. Acta Crystallogr B (2002) 1.24
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. J Med Genet (2006) 1.17
What does it mean to be genomically literate?: National Human Genome Research Institute Meeting Report. Genet Med (2013) 1.17
Early identification of cardiovascular risk using genomics and proteomics. Nat Rev Cardiol (2010) 1.14
Practical challenges in integrating genomic data into the electronic health record. Genet Med (2013) 1.14
After the revolution? Ethical and social challenges in 'personalized genomic medicine' Per Med (2012) 1.14
Screening patients with a family history of colorectal cancer. J Gen Intern Med (2007) 1.12
Development and early usage patterns of a consumer-facing family health history tool. AMIA Annu Symp Proc (2011) 1.10
Utah's Family High Risk Program: bridging the gap between genomics and public health. Prev Chronic Dis (2005) 1.08
Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. Appl Clin Genet (2012) 1.07
Autoimmune diseases and venous thromboembolism: a review of the literature. Am J Cardiovasc Dis (2012) 1.06
Improvements in ability to detect undiagnosed diabetes by using information on family history among adults in the United States. Am J Epidemiol (2010) 1.05
Perceived vulnerability to heart disease in patients with familial hypercholesterolemia: a qualitative interview study. Ann Fam Med (2006) 1.05
Prevalence of family history of breast, colorectal, prostate, and lung cancer in a population-based study. Public Health Genomics (2010) 1.05
Primary care physicians' use of family history for cancer risk assessment. BMC Fam Pract (2010) 1.04
Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model. CMAJ (2009) 1.03
Educating underserved Latino communities about family health history using lay health advisors. Public Health Genomics (2009) 1.01
Implementing practice-linked pre-visit electronic journals in primary care: patient and physician use and satisfaction. J Am Med Inform Assoc (2010) 1.01
Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. Childs Nerv Syst (2008) 1.01
Formative evaluation of clinician experience with integrating family history-based clinical decision support into clinical practice. J Pers Med (2014) 0.99
Using a "genomics tool" to develop disease prevention strategy in a low-income setting: lessons from the podoconiosis research project. J Community Genet (2012) 0.99
Family history and risk of breast cancer: nurses' health study. Breast Cancer Res Treat (2012) 0.97
Family history assessment: impact on disease risk perceptions. Am J Prev Med (2012) 0.97
Factors affecting frequency of communication about family health history with family members and doctors in a medically underserved population. Patient Educ Couns (2011) 0.94
Chronic disease prevention in primary care: how and when will genomics impact? Br J Gen Pract (2014) 0.92
"You don't have to keep everything on paper": African American women's use of family health history tools. J Community Genet (2013) 0.92
Androgenetic alopecia and risk of coronary artery disease. Indian Dermatol Online J (2013) 0.90
Inherited, familial and sporadic primary open-angle glaucoma. J Natl Med Assoc (2007) 0.89
Coherence and completeness of population-based family cancer reports. Cancer Epidemiol Biomarkers Prev (2010) 0.89
The genetic basis of peripheral arterial disease: current knowledge, challenges, and future directions. Circ Res (2015) 0.88
Family history in primary care pediatrics. Pediatrics (2013) 0.88
Automated extraction of family history information from clinical notes. AMIA Annu Symp Proc (2014) 0.87
Characterizing the use and contents of free-text family history comments in the Electronic Health Record. AMIA Annu Symp Proc (2012) 0.86
Veterans' experience in using the online Surgeon General's family health history tool. Per Med (2011) 0.86
Behavioral and economic impact of a familial history of cancers. Fam Cancer (2005) 0.85
Validation of family cancer history data in high-risk families: the influence of cancer site, ethnicity, kinship degree, and multiple family reporters. Am J Epidemiol (2015) 0.84
A family history of breast cancer will not predict female early onset breast cancer in a population-based setting. BMC Cancer (2008) 0.83
Willingness of Mexican-American adults to share family health history with healthcare providers. Am J Prev Med (2011) 0.83
Completeness of pedigree and family cancer history for ovarian cancer patients. J Gynecol Oncol (2014) 0.82
Impact of a family history of colorectal cancer on the prevalence of advanced neoplasia at colonoscopy in 4,967 asymptomatic patients. Dig Dis Sci (2011) 0.82
Can targeted genetic testing offer useful health information to adoptees? Genet Med (2015) 0.81
Representation of information about family relatives as structured data in electronic health records. Appl Clin Inform (2014) 0.81
Family physicians' management of genetic aspects of a cardiac disease: a scenario-based study from slovenia. Balkan J Med Genet (2014) 0.81
Public health genomics approach to type 2 diabetes. Diabetes (2008) 0.81
The KinFact intervention - a randomized controlled trial to increase family communication about cancer history. J Womens Health (Larchmt) (2014) 0.81
What You Don't Know: Improving Family Health History Knowledge among Multigenerational Families of Mexican Origin. Public Health Genomics (2016) 0.80
When family means more (or less) than genetics: the intersection of culture, family and genomics. J Transcult Nurs (2009) 0.80
Digital family histories for data mining. Perspect Health Inf Manag (2013) 0.80
The family history: reemergence of an established tool. Crit Care Nurs Clin North Am (2008) 0.80
Can the cardiovascular family history reported by our patients be trusted? The Norwegian Stroke in the Young Study. Eur J Neurol (2015) 0.80
Predicting quantitative traits from genome and phenome with near perfect accuracy. Nat Commun (2016) 0.80
Family history as a predictor for disease risk in healthy individuals: a cross-sectional study in Slovenia. PLoS One (2013) 0.79
Stroke patients' knowledge about cardiovascular family history - the Norwegian Stroke in the Young Study (NOR-SYS). BMC Neurol (2015) 0.79
Improving learning about familial risks using a multicomponent approach: the GRACE program. Per Med (2013) 0.79
Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges. Fam Cancer (2006) 0.79
Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider. J Community Genet (2012) 0.79
Acceptability and feasibility of a virtual counselor (VICKY) to collect family health histories. Genet Med (2015) 0.79
Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees. Genet Med (2016) 0.79
Genetic counselors' current use of personal health records-based family histories in genetic clinics and considerations for their future adoption. J Genet Couns (2012) 0.79
Developing genetic epidemiological models to predict risk for nasopharyngeal carcinoma in high-risk population of China. PLoS One (2013) 0.78
Nursing conceptualizations of research and practice. Nurs Outlook (2009) 0.78
The context of collecting family health history: examining definitions of family and family communication about health among African American women. J Health Commun (2015) 0.78
Risk perceptions and family history of lung cancer: differences by smoking status. Public Health Genomics (2010) 0.78
Genetic counseling for DAPK1 mutation in a chronic lymphocytic leukemia family. Cancer Genet Cytogenet (2008) 0.77
Colorectal cancer risk assessment and screening recommendation: a community survey of healthcare providers' practice from a patient perspective. BMC Fam Pract (2012) 0.77
Family health information sharing among older adults: reaching more family members. J Community Genet (2014) 0.77
Family history of cancer in Brazil: is it being used? Fam Cancer (2008) 0.77
Exploring lifestyle and risk in preventing type 2 diabetes-a nested qualitative study of older participants in a lifestyle intervention program (VEND-RISK). BMC Public Health (2016) 0.77
Family history as a risk factor for peripheral arterial disease. Am J Cardiol (2014) 0.77
A novel molecular diagnostic marker for familial and early-onset coronary artery disease and myocardial infarction in the LRP8 gene. Circ Cardiovasc Genet (2014) 0.77
Grappling with genomic incidental findings in the clinical realm. Chest (2014) 0.77
Individualizing recurrence risks for severe mental illness: epidemiologic and molecular genetic approaches. Schizophr Bull (2013) 0.76
Connecting the dots between patient-completed family health history and the electronic health record. J Gen Intern Med (2013) 0.76
Clinical applications of Genome Polymorphism Scans. Biol Direct (2006) 0.76
Family Ties: The Role of Family Context in Family Health History Communication About Cancer. J Health Commun (2016) 0.76
Family physicians' self-perceived importance of providing genetic test information to patients: a cross-sectional study from Slovenia. Med Sci Monit (2014) 0.76
Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr). Prev Med (2015) 0.76
Health care providers' perspective on using family history in the prevention of type 2 diabetes: a qualitative study including different disciplines. BMC Fam Pract (2013) 0.76
Clinically relevant lessons from Family HealthLink: a cancer and coronary heart disease familial risk assessment tool. Genet Med (2014) 0.76
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci U S A (2009) 54.68
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (2007) 43.16
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A (2002) 20.48
International network of cancer genome projects. Nature (2010) 20.35
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Replicating genotype-phenotype associations. Nature (2007) 16.11
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Policy: NIH plans to enhance reproducibility. Nature (2014) 15.71
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature (2003) 12.10
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
The path to personalized medicine. N Engl J Med (2010) 9.87
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
Policy: NIH to balance sex in cell and animal studies. Nature (2014) 9.15
Ethics. Identifiability in genomic research. Science (2007) 9.08
A mouse for all reasons. Cell (2007) 9.01
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
The knockout mouse project. Nat Genet (2004) 7.80
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A (2004) 7.55
Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet (2008) 7.31
NIH Molecular Libraries Initiative. Science (2004) 7.04
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
DNase-chip: a high-resolution method to identify DNase I hypersensitive sites using tiled microarrays. Nat Methods (2006) 6.25
Heritable individual-specific and allele-specific chromatin signatures in humans. Science (2010) 5.94
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). Genome Res (2005) 5.71
Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34
MicroRNA target site polymorphisms and human disease. Trends Genet (2008) 5.32
Short interfering RNAs can induce unexpected and divergent changes in the levels of untargeted proteins in mammalian cells. Proc Natl Acad Sci U S A (2004) 4.85
Genomic medicine--a primer. N Engl J Med (2002) 4.77
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
Genes, environment and the value of prospective cohort studies. Nat Rev Genet (2006) 4.33
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Human laminopathies: nuclei gone genetically awry. Nat Rev Genet (2006) 3.89
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. Proc Natl Acad Sci U S A (2006) 3.86
New models for large prospective studies: is there a better way? Am J Epidemiol (2012) 3.85
NIH basics. Science (2012) 3.82
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A (2005) 3.64
Research priorities. The NIH BRAIN Initiative. Science (2013) 3.61
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest (2008) 3.51
Genomic medicine--an updated primer. N Engl J Med (2010) 3.48
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites. Proc Natl Acad Sci U S A (2004) 3.41
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
The genome gets personal--almost. JAMA (2008) 3.28
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Genetic analysis of complex traits in the emerging Collaborative Cross. Genome Res (2011) 3.25
Keeping pace with the times--the Genetic Information Nondiscrimination Act of 2008. N Engl J Med (2008) 3.22
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants. Proc Natl Acad Sci U S A (2013) 2.93
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med (2009) 2.91
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
The mammalian gene function resource: the International Knockout Mouse Consortium. Mamm Genome (2012) 2.65
Sociology. Weaving a richer tapestry in biomedical science. Science (2011) 2.63
Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis. PLoS Genet (2006) 2.62
Association of transcription factor 7-like 2 (TCF7L2) variants with type 2 diabetes in a Finnish sample. Diabetes (2006) 2.58
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet (2012) 2.55
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. Diabetes (2004) 2.46
Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Diabetes (2010) 2.44
Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes. Diabetes (2004) 2.43
The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin. PLoS One (2007) 2.41
Meiotic arrest and aneuploidy in MLH3-deficient mice. Nat Genet (2002) 2.39
Welcome to the genomic era. N Engl J Med (2003) 2.38
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet (2012) 2.34
Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells. Sci Transl Med (2011) 2.33
High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools. Proc Natl Acad Sci U S A (2002) 2.32
Public health. A major environmental cause of death. Science (2011) 2.32
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A (2006) 2.28
A new partner for the international knockout mouse consortium. Cell (2007) 2.23
The completion of the Mammalian Gene Collection (MGC). Genome Res (2009) 2.21
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes (2011) 2.21
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. Cell Metab (2010) 2.21
A lamin A protein isoform overexpressed in Hutchinson-Gilford progeria syndrome interferes with mitosis in progeria and normal cells. Proc Natl Acad Sci U S A (2007) 2.15
MicroRNA-27b is a regulatory hub in lipid metabolism and is altered in dyslipidemia. Hepatology (2012) 2.15
Of mice and MEN1: Insulinomas in a conditional mouse knockout. Mol Cell Biol (2003) 2.12
Common variants in maturity-onset diabetes of the young genes contribute to risk of type 2 diabetes in Finns. Diabetes (2006) 2.03
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts. J Clin Invest (2011) 2.02