Research Topics
| Eden MartinSummaryAffiliation: University of Miami Country: USA Publications
Research Grants
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Detail Information
Publications
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autismJohn P Hussman
John P, Hussman Institute for Human Genomics, University of Miami, 1501 NW 10th Avenue, Miami, FL 33136, USA
Mol Autism 2:1. 2011..abstract:..- Visualizing genotype x phenotype relationships in the GAW15 simulated dataXuejun Qin
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
BMC Proc 1:S132. 2007..The generated plots provide information about genetic models for the simulated continuous covariates and may help identify the single-nucleotide polymorphisms associated with the underlying quantitative trait loci... - Two-stage study designs for analyzing disease-associated covariates: linkage thresholds and case-selection strategiesMike Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
BMC Proc 1:S138. 2007..The quantitative trait loci analysis performed well in identifying these loci, and the power to identify disease-associated alleles was increased by using ordered-subset analysis as a case selection tool... - Pesticide exposure and risk of Parkinson's disease: a family-based case-control studyDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
BMC Neurol 8:6. 2008..Pesticides and correlated lifestyle factors (e.g., exposure to well-water and farming) are repeatedly reported risk factors for Parkinson's disease (PD), but few family-based studies have examined these relationships... - CAPL: an efficient association software package using family and case-control data and accounting for population stratificationRen Hua Chung
Center for Genetic Epidemiology and Statistical Genetics, John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA
BMC Bioinformatics 12:201. 2011..Because computationally intensive algorithms are used in CAPL, implementing CAPL with efficient parallel algorithms is essential... - An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in malesRen Hua Chung
Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, PO Box 019132 M 860, Miami, FL 33101, USA
Mol Autism 2:18. 2011..abstract:.. - The future is now - will the real disease gene please stand up?E R Martin
Center for Genetic Epidemiology and Statistical Genetics, Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Hum Hered 66:127-35. 2008..In conclusion, our results suggest that TDT is an effective screening tool for WGA studies, especially in multiplex families... - SeqEM: an adaptive genotype-calling approach for next-generation sequencing studiesE R Martin
John P Hussman Institute for Human Genomics and the Dr John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA
Bioinformatics 26:2803-10. 2010..Other genotype-calling methods, such as MAQ and SOAPsnp, are implementations of Bayes classifiers in that they classify genotypes using posterior genotype probabilities... - Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome eraNadine Norton
Cardiovascular Division, Department of Medicine and the Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Circ Cardiovasc Genet 5:167-74. 2012..Now broadly applied, exome sequencing data sets provide a novel opportunity to evaluate the allele frequencies of previously published pathogenic rare variants... - Resolving the relationship between ApolipoproteinE and depressionMichael A Slifer
Miami Institute for Human Genomics, University of Miami, Miami, FL 33136, USA
Neurosci Lett 455:116-9. 2009..003) but not among those with Alzheimer disease. Additionally, individuals with Alzheimer disease and depression had a significantly younger age of onset for their Alzheimer disease than those without depression (p=0.017)... 
A multiple testing correction method for genetic association studies using correlated single nucleotide polymorphismsXiaoyi Gao
Center for Genetic Epidemiology and Statistical Genetics, Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
Genet Epidemiol 32:361-9. 2008..The efficiency and accuracy of the proposed method make it an attractive choice for multiple testing adjustment when there is high intermarker LD in the SNP data set...- APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputationGary W Beecham
John P Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida 33136, USA
Ann Hum Genet 74:189-94. 2010..This shows that joint analyses of imputed genotypes, particularly failure to replicate strong signals, should be considered critically and examined on a case-by-case basis... - Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer diseaseGary W Beecham
Miami Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33101, USA
Am J Hum Genet 84:35-43. 2009..These results help to further define the genetic architecture of LOAD... - Exome sequencing of a multigenerational human pedigreeDale J Hedges
John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
PLoS ONE 4:e8232. 2009.... - Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyNadine Norton
Cardiovascular Division, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL 33136 1015, USA
Am J Hum Genet 88:273-82. 2011..Knockdown of bag3 in a zebrafish model recapitulated DCM and heart failure. We conclude that new comprehensive genomic approaches have identified rare variants in BAG3 as causative of DCM... - A cross-validation procedure for general pedigrees and matched odds ratio fitness metric implemented for the multifactor dimensionality reduction pedigree disequilibrium testTodd L Edwards
Center for Genetic Epidemiology and Statistical Genetics, Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Florida, USA
Genet Epidemiol 34:194-9. 2010..We report that the CV procedure is valid with the permutation test, MDR-PDT performs similarly with 5- and 10-fold CV, and that the MOR is more powerful than PE as the fitness metric for MDR-PDT... - Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18Xiaoyi Gao
Dr John T Macdonald Foundation, Department of Human Genetics and Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Am J Hum Genet 84:499-504. 2009..The finding of two loci (one highly statistically significant) suggests that additional PD susceptibility genes might be identified through targeted candidate gene studies in these regions... - Common susceptibility variants examined for association with dilated cardiomyopathyEvadnie Rampersaud
Hussman Institute for Human Genomics, Department of Human Genetics, University of Miami, Miami, FL, USA
Ann Hum Genet 74:110-6. 2010..Our results suggest that examination of common genetic variants may be warranted in future studies of DCM and other Mendelian-like disorders... - A genome-wide association study of autism reveals a common novel risk locus at 5p14.1Deqiong Ma
Miami Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA
Ann Hum Genet 73:263-73. 2009..24E-04 to 3.40E-06) than in either dataset alone. Our findings demonstrate that in addition to multiple rare variations, part of the complex genetic architecture of autism involves common variation... - Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson diseaseTodd L Edwards
John P Hussman Institute for Human Genomics, University of Miami, FL 33136, USA
Ann Hum Genet 74:97-109. 2010..79] T vs. C allele, PAR%= 8%) were genome-wide significant. No other SNPs were genome-wide significant in this analysis. This study confirms that SNCA and the MAPT region are major genes whose common variants are influencing risk of PD... - Disease associations and family-based testsWarren J Ewens
University of Pennsylvania, Philadelphia, Pennsylvania, USA
Curr Protoc Hum Genet . 2008..The unit includes the Sib TDT (S-TDT) method, which allows application of the principle of the TDT to sibships without parental data, and several related tests... 
Disease associations and family-based testsWarren J Ewens
University of Pennsylvania, Philadelphia, Pennsylvania, USA
Curr Protoc Hum Genet . 2003..The unit includes the Sib TDT (S-TDT) method, which allows application of the principle of the TDT to sibships without parental data. This extension of TDT is potentially valuable for studying late onset diseases...- Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasisTricia A Thornton-Wells
Biobehavioral Intervention Training Program, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University Institute for Imaging Science, Vanderbilt University, Nashville, Tennessee 37203, USA
Genet Epidemiol 32:187-203. 2008..Further studies are needed to replicate these statistical findings and to elucidate possible biological interaction mechanisms between LRRTM3 and these genes... - Methods for interaction analyses using family-based case-control data: conditional logistic regression versus generalized estimating equationsDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Genet Epidemiol 31:883-93. 2007..g., population stratification) and the interpretation of its OR estimates... - Interpreting analyses of continuous covariates in affected sibling pair linkage studiesSilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Genet Epidemiol 31:541-52. 2007..They suggest that the side-by-side evaluation of OSA and QTL results may provide important information about the relationship of measured covariates with either disease risk or linkage heterogeneity... - No gene is an island: the flip-flop phenomenonPing I Lin
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Am J Hum Genet 80:531-8. 2007.... - Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missingAbee L Boyles
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Hered 59:220-7. 2005..Given the increasing popularity of high-density genome-wide SNP screens, inter-marker LD should be a concern in future linkage studies... - Linkage analysis with gene-environment interaction: model illustration and performance of ordered subset analysisSilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Genet Epidemiol 30:409-22. 2006.... - Lack of association between autism and SLC25A12Raquel Rabionet
Center for Human Genetics, Department of Medicine, Duke University Medical Center, 595 LaSalle St, Durham, NC 27710, USA
Am J Psychiatry 163:929-31. 2006..This study aimed to test for association in SLC25A12 in an independent data set of 327 families with autistic offspring... - X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents designLi Zhang
Bioinformatics Research Center, North Carolina State University, Raleigh, North Carolina, USA
Genet Epidemiol 32:370-80. 2008..In addition, estimation of disease-related marker relative risks provides a measure of the magnitude of X-linked genetic effects on complex disorders... - Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson diseaseYi Ju Li
Department of Medicine, Center for Human Genetics, Institute for Genome Science and Policy, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
Hum Mol Genet 12:3259-67. 2003..This is provocative given reports of the possible role of inflammation in these two neurodegenerative disorders... - The APL test: extension to general nuclear families and haplotypes and examination of its robustnessRen-Hua Chung
Bioinformatics Research Center, North Carolina State University, Raleigh, N.C, USA
Hum Hered 61:189-99. 2006..We also evaluated general guidelines for the validity of APL with rare alleles and rare haplotypes. Software for the APL test is available from http://www.chg.duke.edu/research/apl.html... - Accounting for linkage in family-based tests of association with missing parental genotypesEden R Martin
Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 73:1016-26. 2003..As an example, we compare the performance of the tests in a candidate-gene study in families with Parkinson disease... - Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotypeSofia A Oliveira
Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Neurogenetics 5:147-55. 2004..02). These results define the genes and regulatory regions included in this region of LD, containing an important susceptibility allele contributing to increased risk of neurodegeneration... - Interpretation of simultaneous linkage and family-based association tests in genome screensRen Hua Chung
Bioinformatics Research Center, North Carolina State University, Raleigh, NC 27710, USA
Genet Epidemiol 31:134-42. 2007..We concluded that when linkage and association tests are applied in the same data, the type I error rate of neither test will be affected and that power can be increased by applying tests conditionally... - Parsing the genetic heterogeneity of chromosome 12q susceptibility genes for Alzheimer disease by family-based association analysisPing-I Lin
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Neurogenetics 7:157-65. 2006..0026). These results suggest that subset and covariate analyses may be one approach to help identify novel susceptibility genes on chromosome 12q for LOAD... - Analysis of European mitochondrial haplogroups with Alzheimer disease riskJoelle M van der Walt
Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Neurosci Lett 365:28-32. 2004..We suggest that variations within haplogroup U may be involved in AD expression in combination with environmental exposures or nuclear proteins other than APOE... - Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer diseaseKristin K Nicodemus
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Neurogenetics 5:201-8. 2004..In conclusion, SNPs +5361, or a SNP in strong linkage disequilibrium, may confer some additional risk for developing AD beyond the risk due to APOE-4; however, the effect independent of APOE-4 is likely to be small... - Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson diseaseJoelle M van der Walt
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 74:1121-7. 2004..0003), whereas a second haplotype (A-G-G-G-C) was found to be negatively associated with risk of PD (P=.0009). Our results strongly support FGF20 as a risk factor for PD... - Adjusting for covariates on a slippery slope: linkage analysis of change over timeEvadnie Rampersaud
Section of Medical Genetics, Department of Medicine, Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
BMC Genet 4:S50. 2003.... - The Q7R Saitohin gene polymorphism is not associated with Alzheimer diseaseSofia A Oliveira
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Box 3445, Duke University Medical Center, Durham, NC 27710, USA
Neurosci Lett 347:143-6. 2003..We found no evidence of significant association of this polymorphism with risk of AD using family-based and case-control tests of association... - Association study of Parkin gene polymorphisms with idiopathic Parkinson diseaseSofia A Oliveira
Department of Medicine and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC
Arch Neurol 60:975-80. 2003..CONCLUSIONS: These results suggest that these common variants of Parkin are not associated with PD in white patients, although Parkin mutations are known to cause early- and late-onset PD... - Mitochondrial polymorphisms significantly reduce the risk of Parkinson diseaseJoelle M van der Walt
Department of Medicine, and Center for Human Genetics, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 72:804-11. 2003..45; 95% CI 0.22-0.93; P=.03). Our results suggest that ND3 is an important factor in PD susceptibility among white individuals and could help explain the role of complex I in PD expression... - Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genesRaquel Rabionet
Department of Medicine, Center for Human Genetics, 595 LaSalle St, Box 3445, Duke University Medical Center, Durham, NC 27710, USA
Neurosci Lett 372:209-14. 2004.... - Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseasesYi Ju Li
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Box 3445, Durham, NC 27710, USA
Neurobiol Aging 27:1087-93. 2006..These findings suggest the presence of genetic heterogeneity for GSTO1h's effect on AAO, and support GSTO1h's role in modifying AAO in these two disorders... - The ubiquilin 1 gene and Alzheimer's diseaseMichael A Slifer
N Engl J Med 352:2752-3; author reply 2752-3. 2005 - Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson diseaseSun J Kang
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
Mov Disord 21:2175-80. 2006..02). No significant association was found in the male subset. Our results add to the evidence of involvement of MAOB in PD and suggest that the effect may be stronger in women... - Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer diseaseXueying Liang
Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, USA
Hum Mutat 28:1065-73. 2007..However, the candidate gene and linkage analysis results did not converge, suggesting that there is more extensive heterogeneity on chromosome 10 than previously appreciated... - Investigation of potential gene-gene interactions between APOE and RELN contributing to autism riskAllison E Ashley-Koch
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Snyderman Genomic Sciences Building, Durham, NC 27710, USA
Psychiatr Genet 17:221-6. 2007..RELN shares a common biological pathway with APOE, and Persico et al. have observed transmission distortion of the APOE-2 allele in autism families... - Increased efficiency of case-control association analysis by using allele-sharing and covariate informationSilke Schmidt
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Hered 65:154-65. 2008.... - Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synucleinGaofeng Wang
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 82:283-9. 2008..We propose this is likely to be a common mechanism of genetic modulation of individual susceptibility to complex disease... - NOS2A and the modulating effect of cigarette smoking in Parkinson's diseaseDana B Hancock
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Ann Neurol 60:366-73. 2006..NOS2A is a candidate gene for Parkinson's disease (PD) that potentially interacts with cigarette smoking. We examined NOS2A for association with PD risk and age at onset (AAO) and for interaction with smoking... - Investigation of autism and GABA receptor subunit genes in multiple ethnic groupsAnn L Collins
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Neurogenetics 7:167-74. 2006..0253). These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype... - Genetic association tests based on ranks (GATOR) for quantitative traits with and without censoringAndrew S Allen
Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina 27710, USA
Genet Epidemiol 30:248-58. 2006..The power and efficacy of the approach is illustrated through a series of simulation experiments in which the approach is compared to existing methods... - X-APL: an improved family-based test of association in the presence of linkage for the X chromosomeRen Hua Chung
Bioinformatics Research Center, North Carolina State University, Raleigh, NC, USA
Am J Hum Genet 80:59-68. 2007..To show its utility and to discuss interpretation in real-data analysis, we also applied the X-APL to candidate-gene data in a sample of families with Parkinson disease... - Maternal lineages and Alzheimer disease risk in the Old Order AmishJoelle M van der Walt
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Hum Genet 118:115-22. 2005..Therefore, we suggest that the genetic effect responsible for AD dementia in the affected Amish pedigrees is unlikely to be of mitochondrial origin and may be caused by nuclear genetic factors... - Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosisSilke Schmidt
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 70:708-17. 2002..03), whereas a higher proportion of APOE-2 carriers exhibit a mild disease course (P=.02)...
Research Grants
- Statistical tests for association with X-linked genesEden Martin; Fiscal Year: 2007..Thus, the statistical methods and software developed through this grant will have an immediate application in gene mapping studies, and will help researchers identify and localize these important X-linked genes. ..
- Revealing Epistasis in Alzheimer DiseaseEden Martin; Fiscal Year: 2006..Further, knowledge gained from the proposed research will be invaluable for public health efforts to prevent and treat the initiation, progression, and severity of Alzheimer disease. ..