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List of works by Anita L DeStefano

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

scientific article published on 19 June 2017

A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study

scientific article published on 13 March 2003

A locus for autosomal recessive achromatopsia on human chromosome 8q

scientific article published on 01 July 1999

A novel mutation in the MITF gene causes Waardenburg Syndrome Type 2

article

APOE genotype and MRI markers of cerebrovascular disease: systematic review and meta-analysis

scientific article

ATP5H/KCTD2 locus is associated with Alzheimer's disease risk.

scientific article

Association of HSP70 and its co-chaperones with Alzheimer's disease

scientific article

Association of NEDD4L ubiquitin ligase with essential hypertension

scientific article

Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites ⬇️

scientific article published on October 1, 2003

Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium

scientific article

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Bivariate heritability of total and regional brain volumes: the Framingham Study

scientific article published on July 2009

Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls

scientific article

Common variants at 12q14 and 12q24 are associated with hippocampal volume

scientific article

Common variants at 6q22 and 17q21 are associated with intracranial volume

scientific article published on 15 April 2012

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

scientific article (publication date: May 2011)

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

scientific article published on 7 June 2021

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

scientific article

Copy number variation in familial Parkinson disease

scientific article

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

scientific article published on 21 October 2019

Correlation between CAG repeat length and clinical features in Machado-Joseph disease ⬇️

scientific article published on July 1, 1995

Data mining, neural nets, trees--problems 2 and 3 of Genetic Analysis Workshop 15.

scientific article

Detecting linkage for a complex disease using simulated extended pedigrees

scientific article published in January 1997

Erratum: Common variants at 6q22 and 17q21 are associated with intracranial volume

article

Estrogen-related and other disease diagnoses preceding Parkinson's disease

scientific article

Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's Disease

scientific article published on 18 June 2016

Evaluation of population stratification adjustment using genome-wide or exonic variants

scientific article published on 30 June 2020

Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham Study

article

Exome Chip Analysis Identifies Low-Frequency a on Brain Magnetic Imaging

Expectation maximization algorithm based haplotype relative risk (EM-HRR): test of linkage disequilibrium using incomplete case-parents trios

scientific article published on 2 May 2005

Familial paragangliomas: Linkage to chromosome 11q23 and clinical implications ⬇️

scientific article published on 01 October 1997

GWAS for executive function and processing speed suggests involvement of the CADM2 gene.

scientific article

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

scholarly article published 28 August 2017

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.

scientific article published on 27 February 2018

Genetic analyses of longitudinal phenotype data: a comparison of univariate methods and a multivariate approach

scientific article

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Genetic architecture of subcortical brain structures in 38,851 individuals

scientific article published on 21 October 2019

Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study

scientific article

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

scientific article

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies

scientific article published on 5 October 2012

Genetic variants of WNK4 in whites and African Americans with hypertension

scientific article

Genome-Wide Scan for Pulse Pressure in the National Heart, Lung and Blood Institute’s Framingham Heart Study

article by Anita L. DeStefano et al published August 2004 in Hypertension

Genome-wide Association Study Links APOEϵ4 and BACE1 Variants with Plasma Amyloid β Levels

Genome-wide analysis of genetic loci associated with Alzheimer disease

scientific article

Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium

scientific article

Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium

scientific article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

scientific article

Genome-wide scan for white matter hyperintensity: the Framingham Heart Study.

scientific article

Genomewide association studies of stroke

scientific article published on 15 April 2009

Genomewide association study for onset age in Parkinson disease

scientific article

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

scientific article

Genomewide linkage analysis to presbycusis in the Framingham Heart Study

scientific article published in March 2003

Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease

scientific article

HaploBuild: an algorithm to construct non-contiguous associated haplotypes in family based genetic studies

scientific article published on 22 June 2007

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

scientific article

Heritability and a genome-wide linkage scan for arterial stiffness, wave reflection, and mean arterial pressure: the Framingham Heart Study

scientific article published on 5 July 2005

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

scientific article

Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels

scientific article

Identifying rare variants from exome scans: the GAW17 experience

scientific article

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

scientific article published on June 2006

Informative-transmission disequilibrium test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspring

scientific article published in February 2007

Is DFNA5 a susceptibility gene for age-related hearing impairment?

scientific article

Ischemic stroke is associated with the ABO locus: the EuroCLOT study

scientific article published on January 2013

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

scientific article (publication date: September 2014)

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

scientific article

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

scientific article published on 12 March 2018

Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

scientific article published in 2022

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

scientific article

New insights into the genetic etiology of Alzheimer's disease and related dementias

scientific article published in April 2022

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

scientific article (publication date: 3 October 2016)

PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study

scientific article published on 27 March 2002

PLD3 variants in population studies

scientific article published on April 2015

Parental occurrence of stroke and risk of stroke in their children: the Framingham study

scientific article

Pathway analysis following association study ⬇️

scientific article published on November 29, 2011

Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease

scientific article

Polymorphisms in the promoter region of catalase gene and essential hypertension

scientific article published on January 2005

Postmortem Interval Influences α-Synuclein Expression in Parkinson Disease Brain

scientific article published on 13 March 2012

Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

scientific article published on 01 July 2019

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

scientific article

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project

scientific article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

scientific article

Risk of Parkinson's disease after tamoxifen treatment

scientific article

Sepiapterin reductase expression is increased in Parkinson's disease brain tissue

scientific article

Sequence variation of bradykinin receptors B1 and B2 and association with hypertension

scientific article published in January 2005

Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies

scientific article

Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

scientific article

The Alzheimer's Disease Sequencing Project: Study design and sample selection

scientific article published on 13 October 2017

The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports

scientific article

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

scientific article

Two-stage approach for identifying single-nucleotide polymorphisms associated with rheumatoid arthritis using random forests and Bayesian networks

scientific article

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.

scientific article published on 13 March 2018

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