Josee Dupuis, PhD
Adjunct Professor
Boston University School of Public Health
Biostatistics

PhD, Stanford University
MS, Stanford University
BS, Concordia University



Josée Dupuis, Ph.D, is an adjunct Professor of Biostatistics at Boston University School of Public Health (BUSPH). She was previously Chair of Biostatistics at BUSPH. She has held a faculty position at Northwestern University and a senior statistical geneticist position at Genome Therapeutics Corporation, a small biotech company. She has extensive experience in the development and application of methods for genome-wide association studies, gene by environment interaction investigation, genetic meta-analysis and rare variant analysis, with special emphasis on the development of novel statistical approaches to analyze genetic data collected on large families. She is involved in the Framingham Heart Study, collaborating on projects to identify genes influencing diabetes related traits and pulmonary function traits.

Investigator
Framingham Heart Study


Member
Boston University
Bioinformatics Graduate Program


Member
Boston University
Genome Science Institute




TOPMed Omics of Type 2 Diabetes and Quantitative Traits
01/01/2021 - 12/31/2025 (PI of Sub-Project / SP)
Massachusetts General Hospital NIH NIDDK
5UM1DK078616-16

Nutritional Omics of Pulmonary Function Decline
11/15/2019 - 07/31/2024 (PI of Sub-Project / SP)
RTI International NIH NHLBI
1R01HL149352-01

The Role of Genetic Susceptibility in Central American Kidney Disease Epidemic
07/01/2018 - 06/30/2024 (Co-Investigator of Sub-Project / SP)
PI: Daniel Brooks, DSc
NIH/National Diabetes & Digestive & Kidney Diseases
5R01DK116021-05

Mechanism connecting dysregulated BCAA glucose and lipid metabolism in the pathogenesis of metabolic disease
08/19/2019 - 07/31/2022 (Subcontract PI)
Duke University NIH NIDDK
5R01DK121710-03

VA241-16-D-0012 VA Master Contract Task Order 23 (Luke Ruscowitz-Orazem)
09/01/2020 - 08/31/2021 (PI)
VA Boston Healthcare System


TOPMed Contribution to the AMP-T2D Knowledge Portal
04/01/2019 - 05/31/2021 (Co-Investigator)
PI: Ching-Ti Liu, PhD
Foundation for the National Institutes of Health


TOPMed Whole Genome Sequence Analysis of Type 2 Diabetes and Related Traits
05/01/2017 - 04/30/2021 (Subcontract PI)
The Broad Institute, Inc. NIH NIDDK
5U01DK105554-04

VA241-16-D-0012 VA Master Contact Task Order 1-6, 9
02/01/2016 - 01/31/2021 (PI)
VA Boston Healthcare System


VA241-17-D-0092 VA Master Contract Task Order 16
10/01/2019 - 09/30/2020 (PI)
VA Boston Healthcare System


VA241-16-D-0012 VA Master Contact Task Order 15
09/01/2019 - 08/31/2020 (PI)
VA Boston Healthcare System


Showing 10 of 36 results. Show All Results


Title


Yr Title Project-Sub Proj Pubs

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.

iCite Analysis       Copy PMIDs To Clipboard

  1. Zhang J, Hobbs BD, Silverman EK, Sparrow D, Ortega VE, Xu H, Zhang C, Dupuis J, Walkey AJ, O'Connor GT, Cho MH, Moll M. Polygenic Risk Score Added to Conventional Case Finding to Identify Undiagnosed Chronic Obstructive Pulmonary Disease. JAMA. 2025 Mar 04; 333(9):784-792.View Related Profiles. PMID: 39841442
     
  2. Li X, Chen H, Selvaraj MS, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Jiang MZ, DiCorpo D, Gaynor SM, Dey R, Arnett DK, Benjamin EJ, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen YI, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung YJ, Irvin MR, Kaplan RC, Kardia SLR, Kelly TN, Konigsberg I, Kooperberg C, Kral BG, Li C, Li Y, Lin H, Liu CT, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Mitchell BD, Montasser ME, Morrison AC, Naseri T, North KE, Palmer ND, Peyser PA, Psaty BM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari HK, Vasan RS, Viali S, Wang Z, Wessel J, Yanek LR, Yu B, Dupuis J, Meigs JB, Auer PL, Raffield LM, Manning AK, Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X. A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. Nat Comput Sci. 2025 Feb; 5(2):125-143.View Related Profiles. PMID: 39920506
     
  3. Du Y, Pohlmann JE, Chatzidakis S, Brush B, Malinger LA, Stafford RA, Cervantes-Arslanian AM, Benjamin EJ, Gilmore EJ, Dupuis J, Greer DM, Smirnakis SM, Mohammed S, Ong CJ. Quantitative Pupillometry Predicts Neurologic Deterioration in Patients with Large Middle Cerebral Artery Stroke. Ann Neurol. 2025 Jan 18.View Related Profiles. PMID: 39825740
     
  4. Stafford R, Chatzidakis S, Kim ISY, Zhang Y, Rina A, Brush B, Mian A, Abdalkader M, Greer DM, Smirnakis SM, Feske SK, Dupuis J, Ong CJ. Follow-up ASPECTS improves prediction of potentially lethal malignant edema in patients with large middle cerebral artery stroke. J Neurointerv Surg. 2024 Dec 26; 17(e1):e83-e86.View Related Profiles. PMID: 38160055; PMCID: PMC11214636; DOI: 10.1136/jnis-2023-021145;
     
  5. Le Borgne J, Gomez L, Heikkinen S, Amin N, Ahmad S, Choi SH, Bis J, Grenier-Boley B, Rodriguez OG, Kleineidam L, Young J, Tripathi KP, Wang L, Varma A, Campos-Martin R, van der Lee S, Damotte V, de Rojas I, Palmal S, Lipton R, Reiman E, McKee A, De Jager P, Bush W, Small S, Levey A, Saykin A, Foroud T, Albert M, Hyman B, Petersen R, Younkin S, Sano M, Wisniewski T, Vassar R, Schneider J, Henderson V, Roberson E, DeCarli C, LaFerla F, Brewer J, Swerdlow R, Van Eldik L, Hamilton-Nelson K, Paulson H, Naj A, Lopez O, Chui H, Crane P, Grabowski T, Kukull W, Asthana S, Craft S, Strittmatter S, Cruchaga C, Leverenz J, Goate A, Kamboh MI, George-Hyslop PS, Valladares O, Kuzma A, Cantwell L, Riemenschneider M, Morris J, Slifer S, Dalmasso C, Castillo A, Küçükali F, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten J, Ramakers I, Verhey F, Scheltens P, Graff C, Papenberg G, Giedraitis V, Boland A, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grünblatt E, Popp J, Ghidoni R, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Spallazzi M, Seripa D, Rainero I, Daniele A, Bossù P, Masullo C, Rossi G, Jessen F, Fernandez V, Kehoe PG, Frikke-Schmidt R, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Haines J, Farrer L, Mayeux R, Wang LS, Sims R, DeStefano A, Schellenberg GD, Seshadri S, Amouyel P, Williams J, van der Flier W, Ramirez A, Pericak-Vance M, Andreassen OA, Van Duijn C, Hiltunen M, Ruiz A, Dupuis J, Martin E, Lambert JC, Kunkle B, Bellenguez C. X-chromosome-wide association study for Alzheimer's disease. Mol Psychiatry. 2024 Dec 04.View Related Profiles. PMID: 39633006
     
  6. Patchen BK, Zhang J, Gaddis N, Bartz TM, Chen J, Debban C, Leonard H, Nguyen NQ, Seo J, Tern C, Allen R, DeMeo DL, Fornage M, Melbourne C, Minto M, Moll M, O'Connor G, Pottinger T, Psaty BM, Rich SS, Rotter JI, Silverman EK, Stratford J, Graham Barr R, Cho MH, Gharib SA, Manichaikul A, North K, Oelsner EC, Simonsick EM, Tobin MD, Yu B, Choi SH, Dupuis J, Cassano PA, Hancock DB. Multi-ancestry genome-wide association study reveals novel genetic signals for lung function decline. medRxiv. 2024 Nov 27.View Related Profiles. PMID: 39649580; PMCID: PMC11623738; DOI: 10.1101/2024.11.25.24317794;
     
  7. Veerapaneni D, Sakthiyendran NA, Kim SY, Nguyen C, Daneshmand A, Abdalkader M, Mohammed S, Dupuis J, Sheth KN, Gilmore EJ, Greer D, Ong CJ. Pupil Abnormality Frequency in the First 72 Hours Improves IMPACT score in Traumatic Brain Injury. medRxiv. 2024 Nov 26.View Related Profiles. PMID: 39649617; PMCID: PMC11623741; DOI: 10.1101/2024.11.23.24317826;
     
  8. Friedman DJ, Leone DA, Amador JJ, Kupferman J, Francey LJ, Lopez-Pilarte D, Lau J, Delgado I, Yih WK, Salinas A, Wang M, Genovese G, Shah S, Kelly J, Tattersfield CF, Raines NH, Amador M, Dias L, Pitsillides A, Ramirez-Rubio O, Amador AG, Cortopassi M, Applebaum KM, Alper SL, Banks AS, McClean MD, Leibler JH, Scammell MK, Dupuis J, Brooks DR. Genetic risk factors for Mesoamerican nephropathy. Proc Natl Acad Sci U S A. 2024 Dec 03; 121(49):e2404848121.View Related Profiles. PMID: 39585978; PMCID: PMC11626114; DOI: 10.1073/pnas.2404848121;
     
  9. Aggarwal M, Hwang SJ, Lee DH, Huan T, McNeill JN, Courchesne P, Joehanes R, Ho JE, Dupuis J, Hedman ÅK, O'Connor G, Levy D. Plasma Protein Biomarkers of Spirometry Measures of Impaired Lung Function. Chest. 2024 Nov 22.View Related Profiles. PMID: 39580111
     
  10. Zhang W, Sladek R, Li Y, Najafabadi H, Dupuis J. Accounting for genetic effect heterogeneity in fine-mapping and improving power to detect gene-environment interactions with SharePro. Nat Commun. 2024 Oct 30; 15(1):9374. PMID: 39478020; PMCID: PMC11526169; DOI: 10.1038/s41467-024-53818-w;
     
Showing 10 of 351 results. Show More

This graph shows the total number of publications by year, by first, middle/unknown, or last author.

Bar chart showing 351 publications over 31 distinct years, with a maximum of 30 publications in 2023

YearPublications
19952
19962
19972
19982
19993
20003
20013
20021
20032
20041
20056
20064
200718
200811
200914
201012
201113
201220
201311
201421
201521
201621
201720
201819
201918
20209
202118
202221
202330
202420
20253


How Genetics Affect Your Food Choices

Futurity 10/20/2021

2020 American Society of Human Genetics : Mentorship Award
2019 International Genetic Epidemiology (IGES) : Leadership Award
2019 University of Colorado, Denver: Benjamin F. Stapleton, Jr. Lecture
2015 American Association for the Advancement of Science (AAAS): Fellow of the American Association for the Advancement of Science
2015 Boston University School of Public Health: Faculty Career Award in Research and Scholarship
2014 Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium: Senior Leadership Award
2013 American Statistical Association: Fellow of the American Statistical Association
In addition to these self-described keywords below, a list of MeSH based concepts is available here.

Statistical Genetics
Type-2 Diabetes
Machine Learning
Gene-Environment Interactions
Meta-Analysis

I am an adjunct Professor of Biostatistics at the School of Public Health. I have been a mentor to over 35 students, post-doctoral and junior faculty trainees on research projects, and I have mentored many students, fellows and faculty in career development. I have also served as a mentor for the early-career faculty development program. I was fortunate to have outstanding and influential mentors throughout my career, and I strongly believe in "paying it forward" by providing the kind of mentoring that I was fortunate to receive.

My research expertise is statistical genetics, with special emphasis on the development and implementation of new statistical approaches for rare variant analysis, gene by environment evaluation and meta-analysis, with a focus on the analysis of family data. These new methods have been applied to multiple disease areas, such as type-2 diabetes and related traits, pulmonary functions and inflammation biomarkers, in order to elucidate the genetic architecture of these traits.

Available to Mentor as: (Review Mentor Role Definitions):
  • Career Mentor
  • Project Mentor
  • Research / Scholarly Mentor
Contact for Mentoring:
  • Email (see 'Contact Info')

801 Massachusetts Ave Crosstown Center
Boston MA 02118
Google Map

617.358.2517
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