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Research Expertise & Professional Interests Anita L. DeStefano, Ph.D. is Professor of Biostatistics and Neurology and Graduate Affair Faculty Fellow for Diversity and Inclusion. She was an inaugural Associate Director of the BU Genome Science Institute and served in that position from 2008 through 2018. She was Co-Director of the Biostatistics Program, which grants MA and Ph.D degrees in Biostatistics for 10 years and is current Director of the Graduate Certificate Program in Statistical Genetics. Dr. DeStefano developed a course in Statistical Genetics (BS858), which is taught to MPH, Biostatistics Program, and other graduate students. She is also co-PI of the BU Summer Institute for Research Education in Biostatistics (SIBS) program, which strives to introduce a diverse group of students into the vibrant field of Biostatistics. She has taught or served as course coordinator for Introduction to Statistical Computing (BS723) for over 18 years. Dr. DeStefano has been instrumental in developing research computing resources for BUMC. She currently is co-chair of the BU IS&T Research Computing Governance Committee. Her main research interest is statistical genetics. She was an investigator in the multi-national GenePD study working to identify the genes contributing Parkinson Disease. Dr. DeStefano is also a senior statistical geneticist for the Framingham Heart Study focusing on stroke, Alzheimer disease and related endophenotypes including brain MRI measures. She is a key member of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium Neurology working group and of the TOPMed Neurocognitive working group and International Genomics of Alzheimer Disease (IGAP) consortium. She currently leads analyses and serves as co-chair of the QC working group within the Alzheimer Disease Sequencing Project (ADSP). Dr. DeStefano is contact PI for the multi-site NIA U01 project "Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches". She also leads an RNA sequencing project in human post-mortem brain tissue focused on long-term obesity status prior to death.

One or more keywords matched the following items that are connected to DeStefano, Anita

Item TypeName
Concept ABO Blood-Group System
Concept Acute Disease
Concept Alleles
Concept Alzheimer Disease
Concept Amino Acid Sequence
Concept Base Sequence
Concept Binding Sites
Concept Cardiovascular Diseases
Concept Charcot-Marie-Tooth Disease
Concept Computer Simulation
Concept Coronary Artery Disease
Concept Cross-Sectional Studies
Concept Data Interpretation, Statistical
Concept Disease Susceptibility
Concept Educational Status
Concept Follow-Up Studies
Concept Genes
Concept Genes, Dominant
Concept Genes, Recessive
Concept Multigene Family
Concept Genetic Code
Concept Hearing Loss, Sensorineural
Concept Heart Diseases
Concept Heat-Shock Proteins
Concept Huntington Disease
Concept Lod Score
Concept Longitudinal Studies
Concept Major Histocompatibility Complex
Concept Marfan Syndrome
Concept Molecular Sequence Data
Concept Muscle, Smooth, Vascular
Concept Occupational Diseases
Concept Organ Size
Concept Parkinson Disease
Concept Parkinson Disease, Secondary
Concept Prospective Studies
Concept Psychiatric Status Rating Scales
Concept Repetitive Sequences, Nucleic Acid
Concept Scotland
Concept Sensitivity and Specificity
Concept Serine
Concept Serine Endopeptidases
Concept Sex Factors
Concept Smoking
Concept Software
Concept Spirometry
Concept Sympathetic Nervous System
Concept Systole
Concept United States
Concept Waardenburg Syndrome
Concept Models, Statistical
Concept Sulfotransferases
Concept Cohort Studies
Concept Signal Transduction
Concept Genome, Human
Concept Case-Control Studies
Concept Open Reading Frames
Concept Genome
Concept Protein-Serine-Threonine Kinases
Concept Sequence Homology, Amino Acid
Concept Sequence Analysis
Concept Sequence Analysis, DNA
Concept Sequence Analysis, RNA
Concept Machado-Joseph Disease
Concept Sample Size
Concept HSP70 Heat-Shock Proteins
Concept Neurodegenerative Diseases
Concept Genetic Predisposition to Disease
Concept Sleep Apnea, Obstructive
Concept Oligonucleotide Array Sequence Analysis
Concept Stroke
Concept Polymorphism, Single Nucleotide
Concept Gene Silencing
Concept Pulmonary Disease, Chronic Obstructive
Concept Genetic Diseases, Inborn
Concept Siblings
Concept Quantitative Trait Loci
Concept DNA Repeat Expansion
Concept Intracellular Signaling Peptides and Proteins
Concept Adaptor Proteins, Signal Transducing
Concept R-SNARE Proteins
Concept Syntaxin 1
Concept Methionine Sulfoxide Reductases
Concept Glutathione S-Transferase pi
Concept alpha-Synuclein
Concept Genome-Wide Association Study
Concept Genetic Loci
Concept Genetic Association Studies
Concept Endosomal Sorting Complexes Required for Transport
Concept Nuclear Receptor Subfamily 4, Group A, Member 2
Concept Genetic Pleiotropy
Concept High-Throughput Nucleotide Sequencing
Concept Cerebral Small Vessel Diseases
Concept Exome
Concept Sialic Acid Binding Ig-like Lectin 3
Academic Article Correlation between CAG repeat length and clinical features in Machado-Joseph disease.
Academic Article Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.
Academic Article A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.
Academic Article A novel mutation in the MITF gene causes Waardenburg syndrome type 2.
Academic Article Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.
Academic Article Detecting linkage for a complex disease using simulated extended pedigrees.
Academic Article Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
Academic Article Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.
Academic Article Evidence for linkage between essential hypertension and a putative locus on human chromosome 17.
Academic Article Identification of a polymorphic glutamic acid stretch in the alpha2B-adrenergic receptor and lack of linkage with essential hypertension.
Academic Article Power of concordant versus discordant sib pairs at different penetrance levels.
Academic Article Stratification techniques to explore genotype environment interactions.
Academic Article Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham study.
Academic Article Evidence for a gene influencing blood pressure on chromosome 17. Genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the framingham heart study.
Academic Article Genetic predisposition to stroke in relatives of hypertensives.
Academic Article Maternal component in the familial aggregation of hypertension.
Academic Article Genome-wide scan for Parkinson's disease: the GenePD Study.
Academic Article Genomewide linkage analysis to presbycusis in the Framingham Heart Study.
Academic Article A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study.
Academic Article Family-based association tests for qualitative and quantitative traits using single-nucleotide polymorphism and microsatellite data.
Academic Article Influence of marker heterozygosity and genetic heterogeneity on fine mapping.
Academic Article PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study.
Academic Article Is DFNA5 a susceptibility gene for age-related hearing impairment?
Academic Article Genetic variants of WNK4 in whites and African Americans with hypertension.
Academic Article Common variants in the 5'' region of the leptin gene are associated with body mass index in men from the National Heart, Lung, and Blood Institute Family Heart Study.
Academic Article Genome-wide scan for pulse pressure in the National Heart, Lung and Blood Institute's Framingham Heart Study.
Academic Article APOE epsilon4 is associated with obstructive sleep apnea/hypopnea: the Sleep Heart Health Study.
Academic Article Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study.
Academic Article Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites.
Academic Article A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study.
Academic Article Genetic analyses of longitudinal phenotype data: a comparison of univariate methods and a multivariate approach.
Academic Article Polymorphisms in the promoter region of catalase gene and essential hypertension.
Academic Article Expectation maximization algorithm based haplotype relative risk (EM-HRR): test of linkage disequilibrium using incomplete case-parents trios.
Academic Article Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.
Academic Article Association of NEDD4L ubiquitin ligase with essential hypertension.
Academic Article BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.
Academic Article Sequence variation of bradykinin receptors B1 and B2 and association with hypertension.
Academic Article Heritability and a genome-wide linkage scan for arterial stiffness, wave reflection, and mean arterial pressure: the Framingham Heart Study.
Academic Article Genome-wide scan for white matter hyperintensity: the Framingham Heart Study.
Academic Article Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study.
Academic Article Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.
Academic Article Informative-transmission disequilibrium test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspring.
Academic Article Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.
Academic Article HaploBuild: an algorithm to construct non-contiguous associated haplotypes in family based genetic studies.
Academic Article Data mining, neural nets, trees--problems 2 and 3 of Genetic Analysis Workshop 15.
Academic Article The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports.
Academic Article Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.
Academic Article Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.
Academic Article Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls.
Academic Article Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.
Academic Article Genomewide association studies of stroke.
Academic Article Two-stage approach for identifying single-nucleotide polymorphisms associated with rheumatoid arthritis using random forests and Bayesian networks.
Academic Article Replication of association between ELAVL4 and Parkinson disease: the GenePD study.
Academic Article Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
Academic Article The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
Academic Article Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.
Academic Article Genomewide association study for onset age in Parkinson disease.
Academic Article Parental occurrence of stroke and risk of stroke in their children: the Framingham study.
Academic Article Bivariate heritability of total and regional brain volumes: the Framingham Study.
Academic Article Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium.
Academic Article Risk of Parkinson's disease after tamoxifen treatment.
Academic Article Estrogen-related and other disease diagnoses preceding Parkinson's disease.
Academic Article Genome-wide analysis of genetic loci associated with Alzheimer disease.
Academic Article Association of HSP70 and its co-chaperones with Alzheimer's disease.
Academic Article Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium.
Academic Article Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Academic Article Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Academic Article Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.
Academic Article Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels.
Academic Article Copy number variation in familial Parkinson disease.
Academic Article Incorporating biological information into association studies of sequencing data.
Academic Article Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
Academic Article Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
Academic Article Pathway analysis following association study.
Academic Article Identifying rare variants from exome scans: the GAW17 experience.
Academic Article Identification of common variants associated with human hippocampal and intracranial volumes.
Academic Article Common variants at 6q22 and 17q21 are associated with intracranial volume.
Academic Article Common variants at 12q15 and 12q24 are associated with infant head circumference.
Academic Article Common variants at 12q14 and 12q24 are associated with hippocampal volume.
Academic Article Postmortem Interval Influences a-Synuclein Expression in Parkinson Disease Brain.
Academic Article Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Academic Article TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Academic Article Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
Academic Article Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Academic Article Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Academic Article Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
Academic Article Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Academic Article ATP5H/KCTD2 locus is associated with Alzheimer''s disease risk.
Academic Article APOE genotype and MRI markers of cerebrovascular disease: systematic review and meta-analysis.
Academic Article Gender equality in Machado-Joseph disease.
Academic Article Heritability estimates of transformations of normally distributed records.
Academic Article Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Academic Article Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Academic Article Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.
Academic Article Serum brain-derived neurotrophic factor and the risk for dementia: the Framingham Heart Study.
Academic Article Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium.
Academic Article Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium.
Academic Article Polygenic risk of ischemic stroke is associated with cognitive ability.
Academic Article Fine-scale patterns of population stratification confound rare variant association tests.
Academic Article Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.
Academic Article Gene-wide analysis detects two new susceptibility genes for Alzheimer''s disease.
Academic Article Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
Academic Article Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease.
Academic Article Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
Academic Article Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer''s disease.
Academic Article Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Academic Article PLD3 variants in population studies.
Academic Article Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease.
Academic Article GWAS for executive function and processing speed suggests involvement of the CADM2 gene.
Academic Article Predicting stroke through genetic risk functions: the CHARGE Risk Score Project.
Academic Article NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.
Academic Article Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Academic Article A novel Alzheimer disease locus located near the gene encoding tau protein.
Academic Article Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson''s disease.
Academic Article Genetic overlap between Alzheimer''s disease and Parkinson''s disease at the MAPT locus.
Academic Article Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases.
Academic Article Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer''s Disease.
Academic Article Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer''s Disease.
Academic Article Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.
Academic Article Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Academic Article Novel genetic loci associated with hippocampal volume.
Academic Article Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer''s disease.
Academic Article Shared genetic susceptibility of vascular-related biomarkers with ischemic and recurrent stroke.
Academic Article Novel microRNA discovery using small RNA sequencing in post-mortem human brain.
Academic Article Evaluation of logistic regression models and effect of covariates for case-control study in RNA-Seq analysis.
Grant Beowulf LINUX Cluster Computer
Academic Article A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer''s disease.
Academic Article Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer''s disease.
Academic Article The Alzheimer''s Disease Sequencing Project: Study design and sample selection.
Academic Article Whole genome sequence analyses of brain imaging measures in the Framingham Study.
Academic Article Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer''s Disease Sequencing Project.
Academic Article Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Academic Article Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer''s disease.
Academic Article Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer''s disease sequencing project.
Academic Article Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging.
Academic Article Whole exome sequencing study identifies novel rare and common Alzheimer''s-Associated variants involved in immune response and transcriptional regulation.
Academic Article Network analysis of drug effect on triglyceride-associated DNA methylation.
Academic Article Integrative methylation score to identify epigenetic modifications associated with lipid changes resulting from fenofibrate treatment in families.
Academic Article Genetic Interaction with Plasma Lipids on Alzheimer''s Disease in the Framingham Heart Study.
Academic Article Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer''s disease.
Academic Article Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.
Academic Article Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.
Academic Article Genetic meta-analysis of diagnosed Alzheimer''s disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing.
Academic Article Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
Academic Article Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype.
Academic Article Author Correction: Genetic meta-analysis of diagnosed Alzheimer''s disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing.
Academic Article Genetic architecture of subcortical brain structures in 38,851 individuals.
Academic Article Correction: Whole exome sequencing study identifies novel rare and common Alzheimer''s-Associated variants involved in immune response and transcriptional regulation.
Academic Article Evaluation of population stratification adjustment using genome-wide or exonic variants.
Academic Article Cardiovascular health, genetic risk, and risk of dementia in the Framingham Heart Study.
Grant Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches
Grant Boston University Summer Institute for Research Education in Biostatistics
Grant ADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model Systems
Grant Boston University Summer Institute in Biostatistics
Grant Boston University Summer Institute for Research Training in Biostatistics
Grant Boston University Summer Institute in Biostatistics
Grant CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample

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