World's Best Scientists 2026 revealed!
Anita L. DeStefano

Anita L. DeStefano

D-Index & Metrics

Genetics

D-Index
80
Citations
40126
World Ranking
1553
National Ranking
724

Medicine

D-Index
80
Citations
40341
World Ranking
16888
National Ranking
8469

Overview

Anita L. DeStefano is affiliated with Boston University in the United States. Their research primarily focuses on the intersection of genetics, molecular biology, and neurology within the broader field of biochemistry, genetics, and molecular biology.

The main topics covered in their work include:

  • Genetic Associations and Epidemiology
  • Genomics and Rare Diseases
  • Alzheimer's disease research and treatments
  • Bioinformatics and Genomic Networks
  • Genetics and Neurodevelopmental Disorders
  • Epigenetics and DNA Methylation
  • Genomic variations and chromosomal abnormalities

DeStefano has contributed extensively to the study of Alzheimer's disease, as reflected in several recent publications:

  • "Common variants in Alzheimer's disease and risk stratification by polygenic risk scores," 2021, Nature Communications
  • "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease," 2022, Nature Genetics
  • "New insights on the genetic etiology of Alzheimer's and related dementia," 2020, bioRxiv (Cold Spring Harbor Laboratory)
  • "Cardiovascular health, genetic risk, and risk of dementia in the Framingham Heart Study," 2020, Neurology
  • "Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants," 2021, Alzheimer s & Dementia

The venues where DeStefano has frequently published include:

  • Alzheimer s & Dementia
  • bioRxiv (Cold Spring Harbor Laboratory)
  • UNC Libraries
  • Nature Communications
  • Neurology

Frequent co-authors collaborating with DeStefano are:

  • Sudha Seshadri
  • Joshua C. Bis
  • Myriam Fornage
  • Gina M. Peloso
  • Honghuang Lin

The subfields of study within DeStefano's body of work include genetics, molecular biology, physiology, neurology, and cancer research. Their contributions span 119 publications within the broader field of biochemistry, genetics, and molecular biology, highlighting a focused yet multidisciplinary approach to understanding genetic and molecular mechanisms underlying complex diseases.

Best Publications

  • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

    Jean-Charles Lambert;Jean-Charles Lambert;Jean-Charles Lambert;Carla A Ibrahim-Verbaas;Denise Harold;Adam C Naj

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

    Paul Hollingworth;Denise Harold;Rebecca Sims;Amy Gerrish

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

    Mike A Nalls;Nathan Pankratz;Christina M. Lill;Chuong B. Do

  • Genome-wide analysis of genetic loci associated with Alzheimer disease.

    Sudha Seshadri;Annette L. Fitzpatrick;M Arfan Ikram;Anita L. DeStefano

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

    Valentina Escott-Price;Céline Bellenguez;Li-San Wang;Seung-Hoan Choi

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

    Rebecca Sims;Sven J. Van Der Lee;Adam C. Naj;Céline Bellenguez;Céline Bellenguez

  • 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

    Daniel Levy;Anita L. DeStefano;Martin G. Larson;Christopher J. O’Donnell

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

    Matthew Traylor;Martin Farrall;Elizabeth G Holliday;Cathie Sudlow

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

    Christina M. Lill;Johannes T. Roehr;Johannes T. Roehr;Matthew B. McQueen;Fotini K. Kavvoura;Fotini K. Kavvoura;Fotini K. Kavvoura

  • Genomewide Association Studies of Stroke

    M. Arfan Ikram;Sudha Seshadri;Joshua C. Bis;Myriam Fornage

  • Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

    Nathan Pankratz;Jemma B. Wilk;Jeanne C. Latourelle;Anita L. DeStefano

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

    Louise V. Wain;Germaine C. Verwoert;Paul F. O'Reilly;Gang Shi

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

    Patrícia Maciel;Patrícia Maciel;Claudia Gaspar;Claudia Gaspar;Anita L. DeStefano;Isabel Silveira;Isabel Silveira

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

    Kuan Lin Huang;Edoardo Marcora;Anna A. Pimenova;Antonio F. Di Narzo

  • Novel genetic loci associated with hippocampal volume

    Derrek Hibar;Hieab H.H. Adams;Neda Jahanshad;Ganesh Chauhan

  • Meta-analysis of Parkinson's Disease: Identification of a Novel Locus, RIT2

    Nathan Pankratz;Gary W. Beecham;Anita L. Destefano;Ted M. Dawson

  • A novel Alzheimer disease locus located near the gene encoding tau protein

    G. Jun;C. A. Ibrahim-Verbaas;M. Vronskaya;J-C Lambert;J-C Lambert;J-C Lambert

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

    Rainer Malik;Ganesh Chauhan;Matthew Traylor;Muralidharan Sargurupremraj

  • Serum Brain-Derived Neurotrophic Factor and the Risk for Dementia: The Framingham Heart Study

    Galit Weinstein;Alexa S. Beiser;Seung Hoan Choi;Sarah R. Preis

  • Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies | NOVA. The University of Newcastle's Digital Repository

    Matthew Traylor;Martin Farrall;Unnur Thorsteinsdottir;Mike A. Nalls

Frequent Co-Authors

Sudha Seshadri
Sudha Seshadri The University of Texas Health Science Center at San Antonio
Joshua C. Bis
Joshua C. Bis University of Washington
Eric Boerwinkle
Eric Boerwinkle The University of Texas Health Science Center at Houston
Bruce M. Psaty
Bruce M. Psaty University of Washington
Alexa Beiser
Alexa Beiser Boston University
Lindsay A. Farrer
Lindsay A. Farrer Boston University
M. Arfan Ikram
M. Arfan Ikram Erasmus University Rotterdam
Myriam Fornage
Myriam Fornage The University of Texas Health Science Center at Houston
Vincent Chouraki
Vincent Chouraki University of Lille
Albert Hofman
Albert Hofman Harvard University

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