Anita L. DeStefano, Ph.D. is Professor of Biostatistics and Neurology and served as Graduate Affair Faculty Fellow for Diversity and Inclusion from 2018-2024. 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. Dr. DeStefano developed a course in Statistical Genetics (BS858), which is taught to MPH, Biostatistics Program, and other graduate students. She was 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 was 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".
Diversity, Equity, Inclusion and Accessibility
My goal is to have equitable practices at the center of all my activities. In addition to the elements of the BUSPH motto: Think. Teach. Do. For the Health of All, I include Learn. It is essential that I continue to learn and educate myself around diversity, equity, inclusion, justice, and accessibility.
Think. I strive to create an inclusive research environment where all members of my team feel valued. I believe a part of this inclusion is the ability for students and researchers to see themselves in the data being examined. This belief led to, for example, a decades long collaboration with the Jackson Heart Study (JHS), which when established was the largest genetic study of African Americans. The BU Summer Institute for Biostatistics (SIBS) welcomed JHS speakers and used JHS data as part of the curriculum, broadening the exposure of SIBS students to diverse data sets.
Recognition of the focus on white populations within my own research in genetics goes back 25 years (Levy et al 2000; PMID: 11040222). I appreciate the recent emphasis on diverse populations within genetic studies and currently strive to incorporate the concepts from TOPMed (PMID: 36119389) and the NASEM publication “Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field” in my research. I served as the co-chair of the ad hoc committee on Race, Ethnicity and Ancestry for the Alzheimer’s Disease Sequencing Project to help identify best practices for this large project focused on whole genome sequencing in diverse populations related to Alzheimer’s disease.
Teach. I am grateful for the opportunities that have been available to me at BU to learn and to teach related to DEI. In 2018-2019 I participated in the Inclusive Practitioner Cohort, which fostered multiple connections across the university. In 2018 I took on the role as Graduate Affair Faculty Fellow for Diversity and Inclusion, supporting these important issues across all graduate programs at BU. Working with co-fellow Tyrone Porter and then Simone Gill, we developed and implemented programs across three pillars: Pillar 1: Diversify recruitment, Pillar 2: Encourage best practices for admissions, Pillar 3: Build community and positive experience. Under Pillar 1 I coordinated BU exhibitor presence at the Annual Biomedical Research Conference for Minoritized Scientists (ABRCMS) and Society for the Advancement of Chicanos/Hispanics and Native Americans in Science (SACNAS) conferences and participated in virtual recruitment events via Howard University Karsh STEM Scholars program, San Diego State University & the Black Doctoral Network. We also developed and implemented virtual and in-person BU visit programs for prospective PhD applications from populations historically underrepresented in the academy. Much of the work for Pillar 2 on equitable admissions was done in concert with the Equity In Graduate Education (EGE) consortium led by Dr. Julie Posselt. BU participated as a founding EGE consortium partner and I served as one of the BU consortium liaisons. Via the consortium I received facilitator training for two workshops on equitable graduate admissions and have had the pleasure of running them multiple times at BU with co-facilitator Vincent Stephens. It was always a pleasure, as part of Pillar 3, to meet with underrepresented BU graduate students and connect them with each other. And to provide support the BU SACNAS chapter and the UGSO (Underrepresented Graduate Student Organization). I believe it is essential to gain and then share knowledge. After I completed the Inclusive STEM Teaching Project (ISTP) and participated in a BU Learning Community, it was a wonderful experience to partner with Dean Yvette Cozier and twice offer the ISTP to the BU Medical Campus community and co-facilitate the Learning Community with her. I have served as co-chair of the BUSPH Biostatistics DEI committee since its inception in 2019. I currently am the Biostatistics representative on the BUSPH-wide DEIJ committee.
Do. I am grateful for the opportunities provided to me via Chary Ortiz, a long-time BUSPH co-worker and friend to engage with her community that surrounds the BU Medical Campus. In the summers of 2016 through 2019 we implemented a “Celebrate Urban Birds” event at the Blackstone Community Center. Over the four years, these events introduced over 100 campers to science, birding, data visualization (histograms), and greening their community.
https://celebrateurbanbirds.org/community/events/blackstone-community-center-celebrates-urban-birds/
https://www.bu.edu/sph/news/articles/2019/celebrating-urban-birds-science-and-conservation/
Investigator
Framingham Heart Study
Boston Medical Center
Member
Boston University
Genome Science Institute
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- Some grants will show an agency award/project number, and may be a link.
- Data is sorted by project end date, and updated monthly.
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Assessing Alzheimer disease risk and heterogeneity using machine learning approaches09/15/2022 - 08/31/2025 (Multi-PI)
PI:
Anita L. DeStefano, PhDUniversity of Massachusetts, Worcester NIH NIA5U01AG068221-04
Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approaches09/30/2018 - 08/31/2025 (PI)
NIH/National Institute on Aging3U01AG058589-05S1
Boston University Summer Institute for Research Education in Biostatistics03/15/2019 - 05/31/2022 (Multi-PI)
PI:
Anita L. DeStefano, PhDNIH/National Heart, Lung, and Blood Institute5R25HL147221-03
ADSP Follow-up in Multi-Ethnic Cohorts via Endophenotypes, Omics & Model Systems12/01/2017 - 05/31/2022 (Subcontract PI)
University of Texas Health Science Center at San Antonio NIH NIA5U01AG052409-04
Assessing Alzheimer disease risk and heterogeneity using multimodal machine learning approaches09/15/2021 - 12/31/2021 (Multi-PI)
PI:
Anita L. DeStefano, PhDNIH/National Institute on Aging1U01AG068221-01A1
CHARGE: Identifying Risk & Protective SNV for AD in ADSP Case-control Sample12/01/2017 - 05/31/2020 (Subcontract PI)
University of Texas Health Science Center at San Antonio NIH NIA7U01AG049505-05
Boston University Summer Institute for Research Training in Biostatistics01/15/2016 - 12/31/2019 (Multi-PI)
PI:
Anita L. DeStefano, PhDNIH/National Heart, Lung, and Blood Institute5R25HL131491-03
Obesity Brain Expression07/29/2014 - 05/31/2019 (PI)
NIH/National Diabetes & Digestive & Kidney Diseases5R01DK099269-04
Boston University Summer Institute in Biostatistics03/01/2013 - 02/28/2016 (Multi-PI)
PI:
Anita L. DeStefano, PhDNIH/National Heart, Lung, and Blood Institute5T15HL097791-06
Boston University Summer Institute in Biostatistics08/20/2009 - 02/28/2013 (Multi-PI)
PI:
Anita L. DeStefano, PhDNIH/National Heart, Lung, and Blood Institute5T15HL097791-03
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Beowulf LINUX Cluster Computer
06/01/2003 - 05/31/2004 (PI)
NIH/National Center for Health Research Resources
1 S10 RR16736 01A1
Showing 10 of 29 results.
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Publications listed below are automatically derived from MEDLINE/PubMed and other
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Wang D, Scalici A, Wang Y, Lin H, Pitsillides A, Heard-Costa N, Cruchaga C, Ziegemeier E, Bis JC, Fornage M, Boerwinkle E, De Jager PL, Wijsman E, Dupuis J, Renton AE, Seshadri S, Goate AM, DeStefano AL, Peloso GM. Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project. J Alzheimers Dis. 2025 Apr; 104(3):841-851.View Related Profiles. PMID: 40084664; DOI: 10.1177/13872877251320375;
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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. 2025 Jun; 30(6):2335-2346.View Related Profiles. PMID: 39633006
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Lee WP, Choi SH, Shea MG, Cheng PL, Dombroski BA, Pitsillides AN, Heard-Costa NL, Wang H, Bulekova K, Kuzma AB, Leung YY, Farrell JJ, Lin H, Kunkle BW, Naj A, Blue EE, Nusetor F, Wang D, Boerwinkle E, Bush WS, Zhang X, De Jager PL, Dupuis J, Farrer LA, Fornage M, Martin E, Pericak-Vance M, Seshadri S, Wijsman EM, Wang LS, Schellenberg GD, Destefano AL, Haines JL, Peloso GM. Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project. Alzheimers Dement. 2024 Dec; 20(12):8470-8483.View Related Profiles. PMID: 39428839; PMCID: PMC11667527; DOI: 10.1002/alz.14283;
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Krüger DM, Pena-Centeno T, Liu S, Park T, Kaurani L, Pradhan R, Huang YN, Risacher SL, Burkhardt S, Schütz AL, Wan Y, Shaw LM, Brodsky AS, DeStefano AL, Lin H, Schroeder R, Krunic A, Hempel N, Sananbenesi F, Blusztajn JK, Saykin AJ, Delalle I, Nho K, Fischer A. The plasma miRNAome in ADNI: Signatures to aid the detection of at-risk individuals. Alzheimers Dement. 2024 Nov; 20(11):7479-7494.View Related Profiles. PMID: 39291752; PMCID: PMC11567822; DOI: 10.1002/alz.14157;
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Xu H, Gupta S, Dinsmore I, Kollu A, Cawley AM, Anwar MY, Chen HH, Petty LE, Seshadri S, Graff M, Below P, Brody JA, Chittoor G, Fisher-Hoch SP, Heard-Costa NL, Levy D, Lin H, Loos RJ, Mccormick JB, Rotter JI, Mirshahi T, Still CD, Destefano A, Cupples LA, Mohlke KL, North KE, Justice AE, Liu CT. Integrating Genetic and Transcriptomic Data to Identify Genes Underlying Obesity Risk Loci. medRxiv. 2024 Jun 12.View Related Profiles. PMID: 38903089; PMCID: PMC11188121; DOI: 10.1101/2024.06.11.24308730;
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Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE, Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL. Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data. Alzheimers Dement. 2024 May; 20(5):3290-3304.View Related Profiles. PMID: 38511601; PMCID: PMC11095439; DOI: 10.1002/alz.13705;
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Leung YY, Naj AC, Chou YF, Valladares O, Schmidt M, Hamilton-Nelson K, Wheeler N, Lin H, Gangadharan P, Qu L, Clark K, Kuzma AB, Lee WP, Cantwell L, Nicaretta H, Haines J, Farrer L, Seshadri S, Brkanac Z, Cruchaga C, Pericak-Vance M, Mayeux RP, Bush WS, Destefano A, Martin E, Schellenberg GD, Wang LS. Human whole-exome genotype data for Alzheimer's disease. Nat Commun. 2024 Jan 23; 15(1):684.View Related Profiles. PMID: 38263370; PMCID: PMC10805795; DOI: 10.1038/s41467-024-44781-7;
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Lary CW, Ghatan S, Gerety M, Hinton A, Nagarajan A, Rosen C, Ross RD, Bennett DA, DeStefano AL, Ikram MA, Rivadeneira F, Kiel DP, Seshadri S, Beiser A. Bone mineral density and the risk of incident dementia: A meta-analysis. J Am Geriatr Soc. 2024 Jan; 72(1):194-200.View Related Profiles. PMID: 37933827; PMCID: PMC10829515; DOI: 10.1111/jgs.18638;
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Wang D, Scalici A, Wang Y, Lin H, Pitsillides A, Heard-Costa N, Cruchaga C, Ziegemeier E, Bis JC, Fornage M, Boerwinkle E, De Jager PL, Wijsman E, Dupuis J, Renton AE, Seshadri S, Goate A, DeStefano AL, Peloso GM. Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP). medRxiv. 2023 Oct 25.View Related Profiles. PMID: 37961373; PMCID: PMC10635182; DOI: 10.1101/2023.10.24.23297227;
Showing 10 of 173 results.
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Lee WP, Choi SH, Shea MG, Cheng PL, Dombroski BA, Pitsillides AN, Heard-Costa NL, Wang H, Bulekova K, Kuzma AB, Leung YY, Farrell JJ, Lin H, Naj A, Blue EE, Nusetor F, Wang D, Boerwinkle E, Bush WS, Zhang X, De Jager PL, Dupuis J, Farrer LA, Fornage M, Martin E, Pericak-Vance M, Seshadri S, Wijsman EM, Wang LS, Schellenberg GD, Destefano AL, Haines JL, Peloso GM. Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project. medRxiv. 2023 Sep 02.View Related Profiles. PMID: 37693521; PMCID: PMC10491367; DOI: 10.1101/2023.09.01.23294953;
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Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE, Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL. Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data. medRxiv. 2023 Aug 29.View Related Profiles. PMID: 37693453; PMCID: PMC10491364; DOI: 10.1101/2023.08.28.23294631;
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de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa D, Grünblatt E, Dardiotis E, Düzel E, Scarpini E, Conti E, Rubino E, Gelpi E, Rodriguez-Rodriguez E, Duron E, Boerwinkle E, Ferri E, Tagliavini F, Küçükali F, Pasquier F, Sanchez-Garcia F, Mangialasche F, Jessen F, Nicolas G, Selbæk G, Ortega G, Chêne G, Hadjigeorgiou G, Rossi G, Spalletta G, Giaccone G, Grande G, Binetti G, Papenberg G, Hampel H, Bailly H, Zetterberg H, Soininen H, Karlsson IK, Alvarez I, Appollonio I, Giegling I, Skoog I, Saltvedt I, Rainero I, Rosas Allende I, Hort J, Diehl-Schmid J, Van Dongen J, Vidal JS, Lehtisalo J, Wiltfang J, Thomassen JQ, Kornhuber J, Haines JL, Vogelgsang J, Pineda JA, Fortea J, Popp J, Deckert J, Buerger K, Morgan K, Fließbach K, Sleegers K, Molina-Porcel L, Kilander L, Weinhold L, Farrer LA, Wang LS, Kleineidam L, Farotti L, Parnetti L, Tremolizzo L, Hausner L, Benussi L, Froelich L, Ikram MA, Deniz-Naranjo MC, Tsolaki M, Rosende-Roca M, Löwenmark M, Hulsman M, Spallazzi M, Pericak-Vance MA, Esiri M, Bernal Sánchez-Arjona M, Dalmasso MC, Martínez-Larrad MT, Arcaro M, Nöthen MM, Fernández-Fuertes M, Dichgans M, Ingelsson M, Herrmann MJ, Scherer M, Vyhnalek M, Kosmidis MH, Yannakoulia M, Schmid M, Ewers M, Heneka MT, Wagner M, Scamosci M, Kivipelto M, Hiltunen M, Zulaica M, Alegret M, Fornage M, Roberto N, van Schoor NM, Seidu NM, Banaj N, Armstrong NJ, Scarmeas N, Scherbaum N, Goldhardt O, Hanon O, Peters O, Skrobot OA, Quenez O, Lerch O, Bossù P, Caffarra P, Dionigi Rossi P, Sakka P, Mecocci P, Hoffmann P, Holmans PA, Fischer P, Riederer P, Yang Q, Marshall R, Kalaria RN, Mayeux R, Vandenberghe R, Cecchetti R, Ghidoni R, Frikke-Schmidt R, Sorbi S, Hägg S, Engelborghs S, Helisalmi S, Botne Sando S, Kern S, Archetti S, Boschi S, Fostinelli S, Gil S, Mendoza S, Mead S, Ciccone S, Djurovic S, Heilmann-Heimbach S, Riedel-Heller S, Kuulasmaa T, Del Ser T, Lebouvier T, Polak T, Ngandu T, Grimmer T, Bessi V, Escott-Price V, Giedraitis V, Deramecourt V, Maier W, Jian X, Pijnenburg YAL, Kehoe PG, Garcia-Ribas G, Sánchez-Juan P, Pastor P, Pérez-Tur J, Piñol-Ripoll G, Lopez de Munain A, García-Alberca JM, Bullido MJ, Álvarez V, Lleó A, Real LM, Mir P, Medina M, Scheltens P, Holstege H, Marquié M, Sáez ME, Carracedo Á, Amouyel P, Schellenberg GD, Williams J, Seshadri S, van Duijn CM, Mather KA, Sánchez-Valle R, Serrano-Ríos M, Orellana A, Tárraga L, Blennow K, Huisman M, Andreassen OA, Posthuma D, Clarimón J, Boada M, van der Flier WM, Ramirez A, Lambert JC, van der Lee SJ, Ruiz A. Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2023 Feb 09; 14(1):716.View Related Profiles. PMID: 36759603; PMCID: PMC9911386; DOI: 10.1038/s41467-023-36192-x;
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Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, Williams J, Nicolas G, Bellenguez C, Lambert JC. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. Nat Genet. 2022 Dec; 54(12):1786-1794.View Related Profiles. PMID: 36411364; PMCID: PMC9729101; DOI: 10.1038/s41588-022-01208-7;
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Sarnowski C, Ghanbari M, Bis JC, Logue M, Fornage M, Mishra A, Ahmad S, Beiser AS, Boerwinkle E, Bouteloup V, Chouraki V, Cupples LA, Damotte V, DeCarli CS, DeStefano AL, Djoussé L, Fohner AE, Franz CE, Kautz TF, Lambert JC, Lyons MJ, Mosley TH, Mukamal KJ, Pase MP, Portilla Fernandez EC, Rissman RA, Satizabal CL, Vasan RS, Yaqub A, Debette S, Dufouil C, Launer LJ, Kremen WS, Longstreth WT, Ikram MA, Seshadri S. Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels. Commun Biol. 2022 Apr 08; 5(1):336.View Related Profiles. PMID: 35396452; PMCID: PMC8993877; DOI: 10.1038/s42003-022-03287-y;
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Gottlieb DJ, DeStefano AL, Foley DJ, Mignot E, Redline S, Givelber RJ, Young T. APOE epsilon4 is associated with obstructive sleep apnea/hypopnea: the Sleep Heart Health Study. Neurology. 2004 Aug 24; 63(4):664-8. PMID: 15326239
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DeStefano AL, Larson MG, Mitchell GF, Benjamin EJ, Vasan RS, Li J, Corey D, Levy D. Genome-wide scan for pulse pressure in the National Heart, Lung and Blood Institute's Framingham Heart Study. Hypertension. 2004 Aug; 44(2):152-5.View Related Profiles. PMID: 15210652
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Jiang Y, Wilk JB, Borecki I, Williamson S, DeStefano AL, Xu G, Liu J, Ellison RC, Province M, Myers RH. 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. Am J Hum Genet. 2004 Aug; 75(2):220-30.View Related Profiles. PMID: 15197684; PMCID: PMC1216056
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Yang Q, Chazaro I, Cui J, Guo CY, Demissie S, Larson M, Atwood LD, Cupples LA, DeStefano AL. Genetic analyses of longitudinal phenotype data: a comparison of univariate methods and a multivariate approach. BMC Genet. 2003; 4 Suppl 1:S29.View Related Profiles. PMID: 14975097; PMCID: PMC1866464
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Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Sullivan KM, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Fink SJ, Myers RH, Herbert A. A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology. 2003 Dec 9; 61(11):1557-61.View Related Profiles. PMID: 14663042
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Cui J, Zhou X, Chazaro I, DeStefano AL, Manolis AJ, Baldwin CT, Gavras H. Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites. Am J Hypertens. 2003 Oct; 16(10):859-63.View Related Profiles. PMID: 14553966
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Wilk JB, DeStefano AL, Joost O, Myers RH, Cupples LA, Slater K, Atwood LD, Heard-Costa NL, Herbert A, O'Connor GT, Gottlieb DJ. Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study. Hum Mol Genet. 2003 Nov 1; 12(21):2745-51.View Related Profiles. PMID: 12966033
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Erlich PM, Cui J, Chazaro I, Farrer LA, Baldwin CT, Gavras H, DeStefano AL. Genetic variants of WNK4 in whites and African Americans with hypertension. Hypertension. 2003 Jun; 41(6):1191-5.View Related Profiles. PMID: 12719438
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Wilk JB, DeStefano AL, Arnett DK, Rich SS, Djousse L, Crapo RO, Leppert MF, Province MA, Cupples LA, Gottlieb DJ, Myers RH. A genome-wide scan of pulmonary function measures in the National Heart, Lung, and Blood Institute Family Heart Study. Am J Respir Crit Care Med. 2003 Jun 1; 167(11):1528-33.View Related Profiles. PMID: 12637344
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DeStefano AL, Gates GA, Heard-Costa N, Myers RH, Baldwin CT. Genomewide linkage analysis to presbycusis in the Framingham Heart Study. Arch Otolaryngol Head Neck Surg. 2003 Mar; 129(3):285-9.View Related Profiles. PMID: 12622536
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Van Laer L, DeStefano AL, Myers RH, Flothmann K, Thys S, Fransen E, Gates GA, Van Camp G, Baldwin CT. Is DFNA5 a susceptibility gene for age-related hearing impairment? Eur J Hum Genet. 2002 Dec; 10(12):883-6.View Related Profiles. PMID: 12461698
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DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine AL, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet. 2002 May; 70(5):1089-95.View Related Profiles. PMID: 11920285; PMCID: PMC447587
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DeStefano AL, Golbe LI, Mark MH, Lazzarini AM, Maher NE, Saint-Hilaire M, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH. Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology. 2001 Sep 25; 57(6):1124-6.View Related Profiles. PMID: 11571351
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DeStefano AL, Gavras H, Heard-Costa N, Bursztyn M, Manolis A, Farrer LA, Baldwin CT, Gavras I, Schwartz F. Maternal component in the familial aggregation of hypertension. Clin Genet. 2001 Jul; 60(1):13-21.View Related Profiles. PMID: 11531965
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Wilk JB, Volcjak JS, Myers RH, Maher NE, Knowlton BA, Heard-Costa NL, Demissie S, Cupples LA, DeStefano AL. Family-based association tests for qualitative and quantitative traits using single-nucleotide polymorphism and microsatellite data. Genet Epidemiol. 2001; 21 Suppl 1:S364-9.View Related Profiles. PMID: 11793700
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Heard-Costa NL, Demissie S, DeStefano AL, Knowlton BA, Maher NE, Myers RH, Volcjak JS, Wilk JB, Cupples LA. Influence of marker heterozygosity and genetic heterogeneity on fine mapping. Genet Epidemiol. 2001; 21 Suppl 1:S467-72.View Related Profiles. PMID: 11793720
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Levy D, DeStefano AL, Larson MG, O'Donnell CJ, Lifton RP, Gavras H, Cupples LA, Myers RH. 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. Hypertension. 2000 Oct; 36(4):477-83.View Related Profiles. PMID: 11040222
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Shearman AM, Ordovas JM, Cupples LA, Schaefer EJ, Harmon MD, Shao Y, Keen JD, DeStefano AL, Joost O, Wilson PW, Housman DE, Myers RH. Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham study. Hum Mol Genet. 2000 May 22; 9(9):1315-20.View Related Profiles. PMID: 10814713
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Nicolaou M, DeStefano AL, Gavras I, Cupples LA, Manolis AJ, Baldwin CT, Gavras H, Farrer LA. Genetic predisposition to stroke in relatives of hypertensives. Stroke. 2000 Feb; 31(2):487-92.View Related Profiles. PMID: 10657427
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Baldwin CT, Schwartz F, Baima J, Burzstyn M, DeStefano AL, Gavras I, Handy DE, Joost O, Martel T, Manolis A, Nicolaou M, Bresnahan M, Farrer L, Gavras H. Identification of a polymorphic glutamic acid stretch in the alpha2B-adrenergic receptor and lack of linkage with essential hypertension. Am J Hypertens. 1999 Sep; 12(9 Pt 1):853-7.View Related Profiles. PMID: 10509541
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Milunsky A, Huang XL, Milunsky J, DeStefano A, Baldwin CT. A locus for autosomal recessive achromatopsia on human chromosome 8q. Clin Genet. 1999 Jul; 56(1):82-5.View Related Profiles. PMID: 10466422
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Baima J, Nicolaou M, Schwartz F, DeStefano AL, Manolis A, Gavras I, Laffer C, Elijovich F, Farrer L, Baldwin CT, Gavras H. Evidence for linkage between essential hypertension and a putative locus on human chromosome 17. Hypertension. 1999 Jul; 34(1):4-7.View Related Profiles. PMID: 10406815
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Wilk JB, Premkumar S, Nicolaou M, Myers RH, Maher NE, Harmon MD, Farrer LA, DeStefano AL, Cupples LA, Couropmitree NN. Stratification techniques to explore genotype environment interactions. Genet Epidemiol. 1999; 17 Suppl 1:S761-6.View Related Profiles. PMID: 10597527
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Nicolaou M, Premkumar S, DeStefano AL, Farrer LA, Cupples LA. Power of concordant versus discordant sib pairs at different penetrance levels. Genet Epidemiol. 1999; 17 Suppl 1:S679-84.View Related Profiles. PMID: 10597513
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DeStefano AL, Baldwin CT, Burzstyn M, Gavras I, Handy DE, Joost O, Martel T, Nicolaou M, Schwartz F, Streeten DH, Farrer LA, Gavras H. Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q. Am J Hum Genet. 1998 Nov; 63(5):1425-30.View Related Profiles. PMID: 9792870; PMCID: PMC1377553
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DeStefano AL, Cupples LA, Arnos KS, Asher JH, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet. 1998 May; 102(5):499-506.View Related Profiles. PMID: 9654197
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Milunsky J, DeStefano AL, Huang XL, Baldwin CT, Michels VV, Jako G, Milunsky A. Familial paragangliomas: linkage to chromosome 11q23 and clinical implications. Am J Med Genet. 1997 Oct 3; 72(1):66-70.View Related Profiles. PMID: 9295078
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DeStefano AL, Cupples LA, Myers RH, Farrer LA. Detecting linkage for a complex disease using simulated extended pedigrees. Genet Epidemiol. 1997; 14(6):981-6.View Related Profiles. PMID: 9433611
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Gaspar C, Lopes-Cendes I, DeStefano AL, Maciel P, Silveira I, Coutinho P, MacLeod P, Sequeiros J, Farrer LA, Rouleau GA. Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins. Hum Genet. 1996 Nov; 98(5):620-4.View Related Profiles. PMID: 8882886
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DeStefano AL, Cupples LA, Maciel P, Gaspar C, Radvany J, Dawson DM, Sudarsky L, Corwin L, Coutinho P, MacLeod P, et al. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet. 1996 Jul; 59(1):119-27.View Related Profiles. PMID: 8659514; PMCID: PMC1915115
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Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT. A novel mutation in the MITF gene causes Waardenburg syndrome type 2. Genet Anal. 1996 Jul; 13(2):43-4.View Related Profiles. PMID: 8880147
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Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet. 1996 Jun; 58(6):1254-9.View Related Profiles. PMID: 8651303; PMCID: PMC1915077
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DeStefano AL, Farrer LA, Maciel P, Gaspar C, Rouleau GA, Coutinho P, Sequeiros J. Gender equality in Machado-Joseph disease. Nat Genet. 1995 Oct; 11(2):118-9.View Related Profiles. PMID: 7550334
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Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, Dawson DM, Sudarsky L, Guimarães J, Loureiro JE, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet. 1995 Jul; 57(1):54-61.View Related Profiles. PMID: 7611296; PMCID: PMC1801255
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DeStefano AL, Van Vleck LD. Heritability estimates of transformations of normally distributed records. J Dairy Sci. 1991 Apr; 74(4):1408-12. PMID: 1860982
This graph shows the total number of publications by year, by first, middle/unknown,
or last author.
Year | Publications |
---|
1991 | 1 |
1995 | 2 |
1996 | 4 |
1997 | 2 |
1998 | 2 |
1999 | 5 |
2000 | 3 |
2001 | 4 |
2002 | 2 |
2003 | 7 |
2004 | 3 |
2005 | 8 |
2006 | 2 |
2007 | 7 |
2008 | 5 |
2009 | 6 |
2010 | 4 |
2011 | 10 |
2012 | 11 |
2013 | 10 |
2014 | 12 |
2015 | 10 |
2016 | 5 |
2017 | 6 |
2018 | 11 |
2019 | 6 |
2020 | 3 |
2021 | 5 |
2022 | 4 |
2023 | 5 |
2024 | 6 |
2025 | 2 |