Mark J. Daly

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

223h-index397.7kcitations1.2kworks15.12yr avg
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Research Topics

Genetic Associations and Epidemiology(359), Genomics and Rare Diseases(224), Inflammatory Bowel Disease(110), Genomic variations and chromosomal abnormalities(109), Genetics and Neurodevelopmental Disorders(96)

Publications1.1k total

Cost-effective non-additive GWAS across 2329 diseases in 500,349 individuals
Nature Communications·2025Open Access
Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disorders
Science Translational Medicine·2025· 1 cited
Population-scale multiome immune cell atlas reveals complex disease drivers
2025Open Access
Genetics and context for precision health in Greater Boston
Nature Communications·2025· 2 citedOpen Access
The <i>9p21.3</i> Coronary Artery Disease Risk Locus Modulates Vascular Cell-State Transitions via Enhancer-Driven Regulation of <i>MTAP</i>
2025Open Access
Rare genetic variants confer a high risk of ADHD and implicate neuronal biology
Nature·2025· 2 citedOpen Access
Improved allele frequencies in gnomAD through local ancestry inference
Nature Communications·2025· 5 citedOpen Access
79. DISSECTING THE CONTRIBUTION OF RARE CODING VARIANTS TO RISK OF AUTISM AND ADHD
European Neuropsychopharmacology·2025
23. RARE CODING VARIANTS IN SCHIZOPHRENIA HAVE ADDITIVE EFFECTS ON POLYGENIC RISK AND ASSOCIATE WITH COGNITIVE ABILITIES IN INDIVIDUALS WITH PSYCHOTIC DISORDERS
European Neuropsychopharmacology·2025Open Access
Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects
Nature Genetics·2025· 33 cited
Autoimmune disease risk gene ANKRD55 promotes TH17 effector function through metabolic modulation
The Journal of Experimental Medicine·2025
Proteomic prediction of disease largely reflects environmental risk exposure
2025· 3 citedOpen Access
Genetics-to-structure multiscale analysis identifies disrupted calcium homeostasis as a mechanism of psychiatric disease
2025Open Access
Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank
The American Journal of Human Genetics·2025· 1 citedOpen Access
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty
Nature Aging·2025· 2 citedOpen Access
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases
2025Open Access
Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13
2025Open Access
Genome-wide Association Study Identifies <i>SORCS3</i> as a Novel Susceptibility Locus for Panic Disorder in the FinnGen Study
2025Open Access
PGS Browser: a public platform for personalized polygenic score interpretation
2025Open Access
Loss of CFHR5 function reduces the risk for age-related macular degeneration
Nature Communications·2025· 2 citedOpen Access
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Frequent Co-authors

Benjamin M. Neale(13), David Altshuler(13), Stacey Gabriel(13), Shaun Purcell(8), Eric Banks(7), Kaitlin E. Samocha(7), Christine Stevens(7), Stephan Ripke(7), Paul I. W. de Bakker(6), Eric S. Lander(6), S. F. Schaffner(6), Alkes L. Price(6), Joel N. Hirschhorn(5), Jack A. Kosmicki(5), Michael Boehnke(5), Aarno Palotie(5), Daniel G. MacArthur(5), Raymond K. Walters(5), Judy H. Cho(5), Hon‐Cheong So(5)