Scholars@Duke
Elizabeth Rebecca Hauser

Elizabeth Rebecca Hauser

Professor of Biostatistics & Bioinformatics
Biostatistics & Bioinformatics, Division of Integrative Genomics
Duke Box 104775, Durham, NC 27708
300 N Duke St, Rm 47-121 Carmichael Bldg, Durham, NC 27701

Featured Works

Integrating genetic and gene expression evidence into genome-wide association analysis of gene sets.

Journal article Genome Res · February 2012 Featured Publication Single variant or single gene analyses generally account for only a small proportion of the phenotypic variation in complex traits. Alternatively, gene set or pathway association analyses are playing an increasingly important role in uncovering genetic arc ... Full text Link to item Cite

Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system.

Journal article BMC Health Serv Res · October 11, 2011 Featured Publication BACKGROUND: The CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is ... Full text Open Access Link to item Cite

Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease.

Journal article Hum Genet · June 2011 Featured Publication Tenascin-C (TNC) is an extracellular matrix protein implicated in biological processes important for atherosclerotic plaque development and progression, including smooth muscle cell migration and proliferation. Previously, we observed differential expressi ... Full text Link to item Cite

A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

Journal article J Hum Genet · March 2011 Featured Publication A 58 kb region on chromosome 9p21.3 has consistently shown strong association with coronary artery disease (CAD) in multiple genome-wide association studies in populations of European and East Asian ancestry. In this study, we sought to further characteriz ... Full text Link to item Cite

Effects of FOXO genotypes on longevity: a biodemographic analysis.

Journal article J Gerontol A Biol Sci Med Sci · December 2010 Featured Publication Based on data from 760 centenarians and 1060 middle-age controls (all Han Chinese), this article contributes biodemographic insights and syntheses concerning the magnitude of effects of the FOXO genotypes on longevity. We also estimate independent and join ... Full text Open Access Link to item Cite

Reclassification of cardiovascular risk using integrated clinical and molecular biosignatures: Design of and rationale for the Measurement to Understand the Reclassification of Disease of Cabarrus and Kannapolis (MURDOCK) Horizon 1 Cardiovascular Disease Study.

Journal article Am Heart J · September 2010 Featured Publication BACKGROUND: Clinical predictive models leave gaps in our ability to stratify cardiovascular risk. High-throughput molecular profiling promises to improve risk classification. METHODS: Horizon 1 of the Measurement to Understand the Reclassification of Disea ... Full text Link to item Cite

Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies.

Journal article Hum Mol Genet · July 15, 2010 Featured Publication Aging is believed to be among the most important contributors to atherosclerosis, through mechanisms that remain largely obscure. Serum levels of tumor necrosis factor (TNF) rise with aging and have been correlated with the incidence of myocardial infarcti ... Full text Open Access Link to item Cite

Ordered subset analysis for case-control studies.

Journal article Genet Epidemiol · July 2010 Featured Publication Genetic heterogeneity, which may manifest on a population level as different frequencies of a specific disease susceptibility allele in different subsets of patients, is a common problem for candidate gene and genome-wide association studies of complex hum ... Full text Link to item Cite

Association of a peripheral blood metabolic profile with coronary artery disease and risk of subsequent cardiovascular events.

Journal article Circ Cardiovasc Genet · April 2010 Featured Publication BACKGROUND: Molecular tools may provide insight into cardiovascular risk. We assessed whether metabolites discriminate coronary artery disease (CAD) and predict risk of cardiovascular events. METHODS AND RESULTS: We performed mass-spectrometry-based profil ... Full text Open Access Link to item Cite

Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family.

Journal article Arthritis Rheum · March 2010 Featured Publication OBJECTIVE: The genetic contributions to the multifactorial disorder osteoarthritis (OA) have been increasingly recognized. The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify gene ... Full text Link to item Cite

Assessment of LD matrix measures for the analysis of biological pathway association.

Journal article Stat Appl Genet Mol Biol · 2010 Featured Publication Complex diseases will have multiple functional sites, and it will be invaluable to understand the cross-locus interaction in terms of linkage disequilibrium (LD) between those sites (epistasis) in addition to the haplotype-LD effects. We investigated the s ... Full text Open Access Link to item Cite

Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking.

Journal article Ann Hum Genet · November 2009 Featured Publication The CATHGEN study reported associations of chromosome 3q13-21 genes (KALRN, MYLK, CDGAP, and GATA2) with early-onset coronary artery disease (CAD). This study attempted to independently validate those associations. Eleven single nucleotide polymorphisms (S ... Full text Link to item Cite

A general integrative genomic feature transcription factor binding site prediction method applied to analysis of USF1 binding in cardiovascular disease.

Journal article Hum Genomics · April 2009 Featured Publication Transcription factors are key mediators of human complex disease processes. Identifying the target genes of transcription factors will increase our understanding of the biological network leading to disease risk. The prediction of transcription factor bind ... Full text Link to item Cite

Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis.

Journal article Hum Genet · March 2009 Featured Publication Leukotrienes are arachidonic acid derivatives long known for their inflammatory properties and their involvement with a number of human diseases, most particularly asthma. Recently, leukotriene-based inflammation has also been shown to play an important ro ... Full text Link to item Cite

High heritability of metabolomic profiles in families burdened with premature cardiovascular disease.

Journal article Mol Syst Biol · 2009 Featured Publication Integration of genetic and metabolic profiling holds promise for providing insight into human disease. Coronary artery disease (CAD) is strongly heritable, but the heritability of metabolomic profiles has not been evaluated in humans. We performed quantita ... Full text Link to item Cite

Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis.

Journal article PLoS Genet · January 2009 Featured Publication Neuropeptide Y (NPY) is a strong candidate gene for coronary artery disease (CAD). We have previously identified genetic linkage to familial CAD in the genomic region of NPY. We performed follow-up genetic, biostatistical, and functional analysis of NPY in ... Full text Open Access Link to item Cite

Ordered-subset analysis (OSA) for family-based association mapping of complex traits.

Journal article Genet Epidemiol · November 2008 Featured Publication Association analysis provides a powerful tool for complex disease gene mapping. However, in the presence of genetic heterogeneity, the power for association analysis can be low since only a fraction of the collected families may carry a specific disease su ... Full text Link to item Cite

ALOX5AP variants are associated with in-stent restenosis after percutaneous coronary intervention.

Journal article Atherosclerosis · November 2008 Featured Publication BACKGROUND: Use of drug-eluting stents (DES) has reduced in-stent restenosis after percutaneous coronary intervention (PCI); however, DES are associated with late stent thrombosis. There is no accurate way to predict in-stent restenosis, although risk fact ... Full text Link to item Cite

Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease.

Journal article Ann Hum Genet · July 2008 Featured Publication Previous association mapping on chromosome 3q13-21 detected evidence for association at the limbic system-associated membrane protein (LSAMP) gene in individuals with late-onset coronary artery disease (CAD). LSAMP has never been implicated in the pathogen ... Full text Link to item Cite

Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets.

Journal article Hum Mol Genet · May 1, 2008 Featured Publication Platelet-activating factor acetylhydrolase (PLA2G7) is a potent pro- and anti-inflammatory molecule that has been implicated in multiple inflammatory disease processes, including cardiovascular disease. The goal of this study was to investigate the genetic ... Full text Link to item Cite

Genetic and functional association of FAM5C with myocardial infarction.

Journal article BMC Med Genet · April 22, 2008 Featured Publication BACKGROUND: We previously identified a 40 Mb region of linkage on chromosome 1q in our early onset coronary artery disease (CAD) genome-wide linkage scan (GENECARD) with modest evidence for linkage (n = 420, LOD 0.95). When the data are stratified by acute ... Full text Link to item Cite

Increased efficiency of case-control association analysis by using allele-sharing and covariate information.

Journal article Hum Hered · 2008 Featured Publication OBJECTIVE: We compared the efficiency of case selection strategies for following up a genome-wide linkage screen of multiplex families. We simulated datasets under three models by which continuous environmental or clinical covariates may contribute to dise ... Full text Link to item Cite

Interpreting analyses of continuous covariates in affected sibling pair linkage studies.

Journal article Genet Epidemiol · September 2007 Featured Publication Datasets collected for linkage analyses of complex human diseases often include a number of clinical or environmental covariates. In this study, we evaluated the performance of three linkage analysis methods when the relationship between continuous covaria ... Full text Link to item Cite

Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.

Journal article Am J Hum Genet · April 2007 Featured Publication A susceptibility locus for coronary artery disease (CAD) has been mapped to chromosome 3q13-21 in a linkage study of early-onset CAD. We completed an association-mapping study across the 1-LOD-unit-down supporting interval, using two independent white case ... Full text Link to item Cite

Interpretation of simultaneous linkage and family-based association tests in genome screens.

Journal article Genet Epidemiol · February 2007 Featured Publication Linkage and association analyses have played important roles in identifying susceptibility genes for complex diseases. Linkage tests and family-based tests of association are often applied in the same data to help fine-map disease loci or validate results. ... Full text Link to item Cite

Maternal serum cytokines in preterm premature rupture of membranes.

Journal article Obstet Gynecol · January 2007 Featured Publication OBJECTIVE: To estimate whether maternal serum interleukin (IL)-6 or granulocyte colony-stimulating factor (G-CSF) obtained daily are elevated in women with preterm premature rupture of membranes who develop funisitis. METHODS: Daily blood samples were obta ... Full text Link to item Cite

Serum lipids in the GENECARD study of coronary artery disease identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q.

Journal article Ann Hum Genet · November 2006 Featured Publication Coronary artery disease (CAD) and dyslipidemia have strong genetic components. Heterogeneity complicates evaluating genetics of complex diseases such as CAD; incorporating disease-related phenotypes may help reduce heterogeneity. We hypothesized that incor ... Full text Link to item Cite

Association of maternal IL-1 receptor antagonist intron 2 gene polymorphism and preterm birth.

Journal article Am J Obstet Gynecol · November 2006 Featured Publication OBJECTIVE: This study was undertaken to determine whether the interleukin-1 receptor antagonist (IL-1RN) variable number tandem repeat polymorphism is associated with preterm birth. STUDY DESIGN: A case-control study was performed. Cases (n = 95) delivered ... Full text Link to item Cite

GATA2 is associated with familial early-onset coronary artery disease.

Journal article PLoS Genet · August 25, 2006 Featured Publication The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and s ... Full text Link to item Cite

Linkage analysis with gene-environment interaction: model illustration and performance of ordered subset analysis.

Journal article Genet Epidemiol · July 2006 Featured Publication The ordered subset analysis (OSA) method allows for the incorporation of covariates into the linkage analysis of a dichotomous disease phenotype in order to reduce genetic heterogeneity. Complex human diseases may involve gene-environment (G x E) interacti ... Full text Link to item Cite

The APL test: extension to general nuclear families and haplotypes and examination of its robustness.

Journal article Hum Hered · 2006 Featured Publication OBJECTIVE: The Association in the Presence of Linkage test (APL) is a powerful statistical method that allows for missing parental genotypes in nuclear families. However, in its original form, the statistic does not easily extend to mixed nuclear family st ... Full text Link to item Cite

Searching for epistatic interactions in nuclear families using conditional linkage analysis.

Journal article BMC Genet · December 30, 2005 Featured Publication BACKGROUND: Genomic screens generally employ a single-locus strategy for linkage analysis, but this may have low power in the presence of epistasis. Ordered subsets analysis (OSA) is a method for conditional linkage analysis using continuous covariates. ME ... Full text Link to item Cite

Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs.

Journal article J Med Genet · December 2005 Featured Publication Multipoint linkage analysis in complex diseases requires the use of fast algorithms that can handle many markers and a large number of moderately sized pedigrees with unknown mode of inheritance. This need has led to the development of several competitive ... Full text Link to item Cite

SNPselector: a web tool for selecting SNPs for genetic association studies.

Journal article Bioinformatics · November 15, 2005 Featured Publication SUMMARY: Single nucleotide polymorphisms (SNPs) are commonly used for association studies to find genes responsible for complex genetic diseases. With the recent advance of SNP technology, researchers are able to assay thousands of SNPs in a single experim ... Full text Link to item Cite

Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.

Journal article Invest Ophthalmol Vis Sci · June 2005 Featured Publication PURPOSE: Primary open-angle glaucoma (POAG) is a complex inherited disorder. It has been demonstrated in other complex disorders that phenotypic heterogeneity may be the result of genetic heterogeneity and that stratification analysis can be used to increa ... Full text Link to item Cite

Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser.

Journal article BMC Bioinformatics · April 12, 2005 Featured Publication BACKGROUND: To facilitate efficient selection and the prioritization of candidate complex disease susceptibility genes for association analysis, increasingly comprehensive annotation tools are essential to integrate, visualize and analyze vast quantities o ... Full text Link to item Cite

Extension of the SIMLA package for generating pedigrees with complex inheritance patterns: environmental covariates, gene-gene and gene-environment interaction.

Journal article Stat Appl Genet Mol Biol · 2005 Featured Publication We have previously distributed a software package, SIMLA (SIMulation of Linkage and Association), which can be used to generate disease phenotype and marker genotype data in three-generational pedigrees of user-specified structure. To our knowledge, SIMLA ... Full text Link to item Cite

Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing.

Journal article Hum Hered · 2005 Featured Publication OBJECTIVES: Describe the inflation in nonparametric multipoint LOD scores due to inter-marker linkage disequilibrium (LD) across many markers with varied allele frequencies. METHOD: Using simulated two-generation families with and without parents, we condu ... Full text Link to item Cite

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.

Journal article Am J Hum Genet · September 2004 Featured Publication A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic fa ... Full text Link to item Cite

Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12.

Journal article BMC Genet · July 6, 2004 Featured Publication BACKGROUND: Age-related macular degeneration (AMD) is a complex disorder that is responsible for the majority of central vision loss in older adults living in developed countries. Phenotypic and genetic heterogeneity complicate the analysis of genome-wide ... Full text Link to item Cite

Ordered subset analysis in genetic linkage mapping of complex traits.

Journal article Genet Epidemiol · July 2004 Featured Publication Etiologic heterogeneity is a fundamental feature of complex disease etiology; genetic linkage analysis methods to map genes for complex traits that acknowledge the presence of genetic heterogeneity are likely to have greater power to identify subtle change ... Full text Link to item Cite

A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14.

Journal article Diabetes · March 2004 Featured Publication The aim of the Finland-United States Investigation of NIDDM Genetics (FUSION) study is to identify genes that predispose to type 2 diabetes or are responsible for variability in diabetes-related traits via a positional cloning and positional candidate gene ... Full text Link to item Cite

Pedigree generation for analysis of genetic linkage and association.

Journal article Pac Symp Biocomput · 2004 Featured Publication We have developed a software package, SIMLA (simulation of linkage and association), which can be used to generate pedigree data under user-specified conditions. The number and location of disease loci, disease penetrances, marker locations, and marker dis ... Full text Link to item Cite

Adjusting for covariates on a slippery slope: linkage analysis of change over time.

Journal article BMC Genet · December 31, 2003 Featured Publication BACKGROUND: We analyzed the Genetic Analysis Workshop 13 (GAW13) simulated data to contrast and compare different methods for the genetic linkage analysis of hypertension and change in blood pressure over time. We also examined methods for incorporating co ... Full text Link to item Cite

Genotype-based association test for general pedigrees: the genotype-PDT.

Journal article Genet Epidemiol · November 2003 Featured Publication Many family-based tests of linkage disequilibrium (LD) are based on counts of alleles rather than genotypes. However, allele-based tests may not detect interactions among alleles at a single locus that are apparent when examining associations with genotype ... Full text Link to item Cite

Accounting for linkage in family-based tests of association with missing parental genotypes.

Journal article Am J Hum Genet · November 2003 Featured Publication In studies of complex diseases, a common paradigm is to conduct association analysis at markers in regions identified by linkage analysis, to attempt to narrow the region of interest. Family-based tests for association based on parental transmissions to af ... Full text Link to item Cite

Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.

Journal article Am J Hum Genet · November 2003 Featured Publication Alzheimer disease (AD) is a complex disorder characterized by a wide range, within and between families, of ages at onset of symptoms. Consideration of age at onset as a covariate in genetic-linkage studies may reduce genetic heterogeneity and increase sta ... Full text Link to item Cite

Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients.

Journal article Blood · August 1, 2003 Featured Publication Complete DiGeorge syndrome is a fatal condition in which infants have no detectable thymus function. The optimal treatment for the immune deficiency of complete DiGeorge syndrome has not been determined. Safety and efficacy of thymus transplantation were e ... Full text Link to item Cite

Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study.

Journal article Am Heart J · April 2003 Featured Publication BACKGROUND: Coronary artery disease (CAD) is the leading cause of death and a leading cause of disability in the developed world. Early onset (premature) coronary artery disease (EOCAD) is known to have a particularly strong genetic component. However, the ... Full text Link to item Cite

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.

Journal article Am J Hum Genet · March 2003 Featured Publication Autistic disorder (AutD) is a complex genetic disease. Available evidence suggests that several genes contribute to the underlying genetic risk for the development of AutD. However, both etiologic heterogeneity and genetic heterogeneity confound the discov ... Full text Link to item Cite

Effects of covariates: a summary of Group 5 contributions.

Journal article Genet Epidemiol · 2003 Featured Publication This report summarizes the contributions of Genetic Analysis Workshop 13 (GAW13) related to the use of covariates in genetic analysis. Seven papers are summarized, five of which analyzed the Framingham Heart Study Data, and two the simulated data. Five pap ... Full text Link to item Cite

Life after the screen: making sense of many P-values.

Journal article Genet Epidemiol · 2001 Featured Publication A multiple analytic approach may be useful for analyzing complex traits since different methods extract both similar and distinct, but complementary pieces of information from genome screen data on extended pedigrees. We examined the usefulness of combinin ... Full text Link to item Cite

The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci.

Journal article Am J Hum Genet · November 2000 Featured Publication Type 2 diabetes mellitus is a complex disorder encompassing multiple metabolic defects. We report results from an autosomal genome scan for type 2 diabetes-related quantitative traits in 580 Finnish families ascertained for an affected sibling pair and ana ... Link to item Cite

The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes.

Journal article Am J Hum Genet · November 2000 Featured Publication We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score (MLS) of 2.15 at map position 69.5 cM from pter and second ... Link to item Cite

Genetic analysis for common complex disease.

Journal article Am Heart J · October 2000 Featured Publication Full text Link to item Cite

Genetic studies in autistic disorder and chromosome 15.

Journal article Neurogenetics · March 2000 Featured Publication Autistic disorder (AD) is a developmental disorder affecting social interactions, communication, and behavior. AD is a disease of complex genetic architecture. It is postulated that several genes contribute to the underlying etiology of AD. Chromosome 15 i ... Full text Link to item Cite

[Carotid stenting with the new slotted tube stent--prospective multicenter study. Essen experiences]].

Journal article Z Kardiol · 2000 Featured Publication UNLABELLED: The indication for therapy of high degree carotid stenoses is discussed controversely in regard to new publications. Only symptomatic carotid stenoses are accepted as indication for operative therapy (arterectomy). The new method of carotid ste ... Link to item Cite

Familiality of quantitative metabolic traits in Finnish families with non-insulin-dependent diabetes mellitus. Finland-United States Investigation of NIDDM Genetics (FUSION) Study investigators.

Journal article Hum Hered · June 1999 Featured Publication Type 2 diabetes mellitus (NIDDM) is a complex disorder encompassing multiple metabolic defects. There exists strong evidence for a genetic component to NIDDM; however, to date there have been few reports of linkage between genetic markers along the genome ... Full text Link to item Cite

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs.

Journal article Proc Natl Acad Sci U S A · March 2, 1999 Featured Publication We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best evidence for linkage is on chromosome 20 with potentially separ ... Full text Link to item Cite

The W64R variant of the beta3-adrenergic receptor is not associated with type II diabetes or obesity in a large Finnish sample.

Journal article Diabetologia · February 1999 Featured Publication Recent studies have suggested an association between Type II (non-insulin-dependent) diabetes mellitus-related phenotypes and a cytosine-to-thymidine substitution that results in the replacement of tryptophan by arginine at codon 64 (Trp64Arg or W64R) of t ... Full text Link to item Cite

Complete genomic screen for disease susceptibility loci in nuclear families.

Journal article Genet Epidemiol · 1999 Featured Publication We performed genome-wide model dependent and independent analyses on a simulated data set of 400 families segregating for a rare disorder. Regions on chromosomes 1, 3, and 5 were consistently indicated across the various analyses performed. Follow-up analy ... Full text Link to item Cite

Genetic linkage analysis of complex genetic traits by using affected sibling pairs.

Journal article Biometrics · December 1998 Featured Publication We provide an introduction to genetic linkage analysis. We discuss methods for the genetic analysis of common, complex disease such as diabetes, heart disease or hypertension. We describe the analysis of affected sibling pairs and discuss some of the chall ... Link to item Cite

A large sample of finnish diabetic sib-pairs reveals no evidence for a non-insulin-dependent diabetes mellitus susceptibility locus at 2qter.

Journal article J Clin Invest · August 15, 1998 Featured Publication In the first reported positive result from a genome scan for non-insulin-dependent diabetes mellitus (NIDDM), Hanis et al. found significant evidence of linkage for NIDDM on chromosome 2q37 and named the putative disease locus NIDDM1 (Hanis et al. 1996. Na ... Full text Link to item Cite

Mapping genes for NIDDM. Design of the Finland-United States Investigation of NIDDM Genetics (FUSION) Study.

Journal article Diabetes Care · June 1998 Featured Publication OBJECTIVE: To map and identify susceptibility genes for NIDDM and for the intermediate quantitative traits associated with NIDDM. RESEARCH DESIGN AND METHODS: We describe the methodology and sample of the Finland-United States Investigation of NIDDM Geneti ... Full text Link to item Cite

Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group.

Journal article Genome Res · February 1997 Featured Publication Large-scale genotyping is required to generate dense identity-by-descent maps to map genes for human complex disease. In some studies the number of genotypes needed can approach or even exceed 1 million. Generally, linkage and linkage disequilibrium analys ... Full text Link to item Cite

Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma.

Journal article Ophthalmology · July 1996 Featured Publication PURPOSE: To determine whether an adult-onset variety of primary open-angle glaucoma in family UM:POAG1 is linked to the previously mapped GLC1A juvenile-onset primary open-angle glaucoma locus on chromosome 1q or whether linkage can be excluded. METHODS: M ... Full text Link to item Cite

Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations.

Journal article Genet Epidemiol · 1996 Featured Publication We describe an extension of Risch's [(1990a,b) Am J Hum Genet 46:222-228, 229-241] method of linkage detection and exclusion for complex genetic traits. The method uses interval mapping to infer disease locus identity-by-descent (IBD) sharing for affected ... Full text Link to item Cite

Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations.

Journal article J Natl Cancer Inst Monogr · 1995 Featured Publication BRCA1 is a breast cancer-related tumor suppressor gene located on human chromosome 17q21. Inherited mutations in BRCA1 are thought to be responsible for approximately half of all inherited breast cancer and to confer increased risk for ovarian, colon, or p ... Link to item Cite

BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis.

Journal article Am J Hum Genet · April 1993 Featured Publication Previous studies have demonstrated linkage between early-onset breast cancer and ovarian cancer and genetic markers on chromosome 17q21. These markers define the location of a gene (BRCA1) which appears to be inherited as an autosomal dominant susceptibili ... Link to item Cite

Prospective treatment of urea cycle disorders.

Journal article J Pediatr · December 1991 Featured Publication We present a diagnostic and therapeutic protocol designed to prevent clinical expression of inborn errors of urea synthesis in the neonatal period, and discuss the long-term developmental outcome of survivors. The families of 32 infants, among 43 identifie ... Full text Link to item Cite

Late-onset ornithine transcarbamylase deficiency in male patients.

Journal article J Pediatr · December 1990 Featured Publication We report on 21 male patients who presented after 28 days of age with ornithine transcarbamylase (OTC) deficiency, which we define as late-onset OTC deficiency. These patients appeared normal at birth, but irritability, vomiting, and lethargy, which were o ... Full text Link to item Cite

Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.

Journal article N Engl J Med · June 7, 1990 Featured Publication Ornithine carbamoyltransferase is an X-linked mitochondrial enzyme expressed in hepatocytes and enterocytes. A deficiency of this enzyme results in central nervous system dysfunction, which may be fatal in newborn boys. Milder forms are seen in older boys ... Full text Link to item Cite