Anita DeStefano | Profiles RNS

Anita L. DeStefano, PhD

Professor

Boston University School of Public Health

Dept of Biostatistics

PhD, Cornell University
MS, Virginia Polytechnic Institute and State University

Websites

	School of Public Health Faculty
	LinkedIn
	ResearchGate

ORCID : 0000-0002-9335-2819

Anita L. DeStefano, Ph.D. is Professor of Biostatistics and Neurology and Associate Director of the BUMC Genome Science Institute. She served for 10 years as Co-Director of the Biostatistics Program, which grants MA and Ph.D degrees in Biostatistics and is current Director of the Graduate Certificate Program in Statistical Genetics. Dr. DeStefano developed a course in Statistical Genetics (BS858), which is taught to MPH, Biostatistics Program, and other graduate students. She is also an instructor and co-PI of the BU Summer Institute for Research Education in Biostatistics (SIBS) program. She has taught or served as course coordinator for Introduction to Statistical Computing (BS723) for over 18 years. 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 is also 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 International Genomics of Alzheimer Disease (IGAP) consortium. She is currently leading QC efforts in the joint NHGRI/NIA Alzheimer Disease Sequencing Project. 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 and the Shared Compute Cluster Faculty Advisory subcomittee.

Associate Professor
Boston University School of Medicine
Neurology

Boston Medical Center

Framingham Heart Study

BU Sponsored Research
NIH RePORTER Sponsored Research

OBESITY BRAIN EXPRESSION
07/29/2014 - 05/31/2019 (PI)
NIH/National Diabetes & Digestive & Kidney Diseases
5R01DK099269-04

BOSTON UNIVERSITY SUMMER INSTITUTE FOR RESEARCH TRAINING IN BIOSTATISTICS
01/15/2016 - 12/31/2018 (Multi-PI)
PI: Anita L. DeStefano, PhD
NIH/National Heart, Lung, and Blood Institute
5R25HL131491-03

BOSTON UNIVERSITY SUMMER INSTITUTE IN BIOSTATISTICS
03/01/2013 - 02/28/2016 (Co-PI)
PI: Lisa M. Sullivan, PhD
NIH/National Heart, Lung, and Blood Institute
5T15HL097791-06

BOSTON UNIVERSITY SUMMER INSTITUTE IN BIOSTATISTICS
08/20/2009 - 02/28/2013 (Co-PI)
PI: Lisa M. Sullivan, PhD
NIH/National Heart, Lung, and Blood Institute
5T15HL097791-03

Beowulf LINUX Cluster Computer
06/01/2003 - 05/31/2004 (PI)
NIH/National Center for Health Research Resources
1 S10 RR16736 01A1

Yr	Title	Project-Sub Proj	Pubs
2018	Boston University Summer Institute for Research Training in Biostatistics	5R25HL131491-03
2017	Boston University Summer Institute for Research Training in Biostatistics	5R25HL131491-02
2016	Boston University Summer Institute for Research Training in Biostatistics	1R25HL131491-01
2016	Obesity Brain Expression	5R01DK099269-03	2
2015	Boston University Summer Institute in Biostatistics	5T15HL097791-06
2014	Obesity Brain Expression	1R01DK099269-01A1	2
2014	Boston University Summer Institute in Biostatistics	5T15HL097791-05
2013	Boston University Summer Institute in Biostatistics	2T15HL097791-04
2011	Boston University Summer Institute in Biostastics	5T15HL097791-03
2010	Boston University Summer Institute in Biostastics	5T15HL097791-02

Showing 10 of 12 results. Show All Results

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.

Beecham GW, Vardarajan B, Blue E, Bush W, Jaworski J, Barral S, DeStefano A, Hamilton-Nelson K, Kunkle B, Martin ER, Naj A, Rajabli F, Reitz C, Thornton T, van Duijn C, Goate A, Seshadri S, Farrer LA, Boerwinkle E, Schellenberg G, Haines JL, Wijsman E, Mayeux R, Pericak-Vance MA. Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease. Neurol Genet. 2018 Dec; 4(6):e286.View Related Profiles.
DeStefano, Anita
Farrer, Lindsay
Seshadri, Sudha
PMID: 30569016.
Peloso GM, van der Lee SJ, Destefano AL, Seshardi S. Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease. Alzheimers Dement (Amst). 2018; 10:595-598.View Related Profiles.
DeStefano, Anita
Peloso, Gina
PMID: 30422133.
Lim E, Xu H, Wu P, Posner D, Wu J, Peloso GM, Pitsillides AN, DeStefano AL, Adrienne Cupples L, Liu CT. Network analysis of drug effect on triglyceride-associated DNA methylation. BMC Proc. 2018; 12(Suppl 9):27.View Related Profiles.
DeStefano, Anita
Liu, Ching-Ti
Peloso, Gina
PMID: 30275881.
Wang B, DeStefano AL, Lin H. Integrative methylation score to identify epigenetic modifications associated with lipid changes resulting from fenofibrate treatment in families. BMC Proc. 2018; 12(Suppl 9):28.View Related Profiles.
DeStefano, Anita
Lin, Honghuang
PMID: 30275882.
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Vardarajan B, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2018 Aug 14.View Related Profiles.
DeStefano, Anita
Lin, Honghuang
Dupuis, Josee
Lunetta, Kathryn
Cupples, L
Farrer, Lindsay
Seshadri, Sudha
PMID: 30108311; DOI: 10.1038/s41380-018-0112-7;.
Jian X, Satizabal CL, Smith AV, Wittfeld K, Bis JC, Smith JA, Hsu FC, Nho K, Hofer E, Hagenaars SP, Nyquist PA, Mishra A, Adams HHH, Li S, Teumer A, Zhao W, Freedman BI, Saba Y, Yanek LR, Chauhan G, van Buchem MA, Cushman M, Royle NA, Bryan RN, Niessen WJ, Windham BG, DeStefano AL, Habes M, Heckbert SR, Palmer ND, Lewis CE, Eiriksdottir G, Maillard P, Mathias RA, Homuth G, Valdés-Hernández MDC, Divers J, Beiser AS, Langner S, Rice KM, Bastin ME, Yang Q, Maldjian JA, Starr JM, Sidney S, Risacher SL, Uitterlinden AG, Gudnason VG, Nauck M, Rotter JI, Schreiner PJ, Boerwinkle E, van Duijn CM, Mazoyer B, von Sarnowski B, Gottesman RF, Levy D, Sigurdsson S, Vernooij MW, Turner ST, Schmidt R, Wardlaw JM, Psaty BM, Mosley TH, DeCarli CS, Saykin AJ, Bowden DW, Becker DM, Deary IJ, Schmidt H, Kardia SLR, Ikram MA, Debette S, Grabe HJ, Longstreth WT, Seshadri S, Launer LJ, Fornage M. Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging. Stroke. 2018 Aug; 49(8):1812-1819.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Satizabal, Claudia
Yang, Qiong
Seshadri, Sudha
PMID: 30002152.
Naj AC, Lin H, Vardarajan BN, White S, Lancour D, Ma Y, Schmidt M, Sun F, Butkiewicz M, Bush WS, Kunkle BW, Malamon J, Amin N, Choi SH, Hamilton-Nelson KL, van der Lee SJ, Gupta N, Koboldt DC, Saad M, Wang B, Nato AQ, Sohi HK, Kuzma A, Wang LS, Adrienne Cupples L, van Duijn C, Seshadri S, Schellenberg GD, Boerwinkle E, Bis JC, Dupuis J, Salerno WJ, Wijsman EM, Martin ER, DeStefano AL. Quality control and integration of genotypes from two calling pipelines for whole genome sequence data in the Alzheimer's disease sequencing project. Genomics. 2018 May 29.View Related Profiles.
DeStefano, Anita
Lin, Honghuang
Dupuis, Josee
Seshadri, Sudha
PMID: 29857119; DOI: 10.1016/j.ygeno.2018.05.004;.
Vardarajan BN, Barral S, Jaworski J, Beecham GW, Blue E, Tosto G, Reyes-Dumeyer D, Medrano M, Lantigua R, Naj A, Thornton T, DeStefano A, Martin E, Wang LS, Brown L, Bush W, van Duijn C, Goate A, Farrer L, Haines JL, Boerwinkle E, Schellenberg G, Wijsman E, Pericak-Vance MA, Mayeux R, Wang LS. Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease. Ann Clin Transl Neurol. 2018 Apr; 5(4):406-417.View Related Profiles.
DeStefano, Anita
Farrer, Lindsay
PMID: 29688227.
Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, den Hoed M, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S, Bis JC, Pastinen T, Ruusalepp A, Schadt EE, Koplev S, Björkegren JLM, Codoni V, Civelek M, Smith NL, Trégouët DA, Christophersen IE, Roselli C, Lubitz SA, Ellinor PT, Tai ES, Kooner JS, Kato N, He J, van der Harst P, Elliott P, Chambers JC, Takeuchi F, Johnson AD, Sanghera DK, Melander O, Jern C, Strbian D, Fernandez-Cadenas I, Longstreth WT, Rolfs A, Hata J, Woo D, Rosand J, Pare G, Hopewell JC, Saleheen D, Stefansson K, Worrall BB, Kittner SJ, Seshadri S, Fornage M, Markus HS, Howson JMM, Kamatani Y, Debette S, Dichgans M, Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, Hoed MD, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O'Donnell MJ, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S, Amin N, Aparicio HS, Arnett DK, Attia J, Beiser AS, Berr C, Buring JE, Bustamante M, Caso V, Cheng YC, Choi SH, Chowhan A, Cullell N, Dartigues JF, Delavaran H, Delgado P, Dörr M, Engström G, Ford I, Gurpreet WS, Hamsten A, Heitsch L, Hozawa A, Ibanez L, Ilinca A, Ingelsson M, Iwasaki M, Jackson RD, Jood K, Jousilahti P, Kaffashian S, Kalra L, Kamouchi M, Kitazono T, Kjartansson O, Kloss M, Koudstaal PJ, Krupinski J, Labovitz DL, Laurie CC, Levi CR, Li L, Lind L, Lindgren CM, Lioutas V, Liu YM, Lopez OL, Makoto H, Martinez-Majander N, Matsuda K, et al. MultianView Related Profiles.
Beiser, Alexa
DeStefano, Anita
Satizabal, Claudia
Buring, Julie
Yang, Qiong
Seshadri, Sudha
PMID: 29531354.
Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C, DeStefano A, Farrer LA, Goate A, Haines J, Jaworski J, Jun G, Kunkle B, Kuzma A, Lee JJ, Lunetta KL, Ma Y, Martin E, Naj A, Nato AQ, Navas P, Nguyen H, Reitz C, Reyes D, Salerno W, Schellenberg GD, Seshadri S, Sohi H, Thornton TA, Valadares O, van Duijn C, Vardarajan BN, Wang LS, Boerwinkle E, Dupuis J, Pericak-Vance MA, Mayeux R, Wijsman EM. Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. Dement Geriatr Cogn Disord. 2018; 45(1-2):1-17.View Related Profiles.
DeStefano, Anita
Jun, Gyungah
Dupuis, Josee
Lunetta, Kathryn
Farrer, Lindsay
Seshadri, Sudha
PMID: 29486463.

Showing 10 of 142 results. Show More

Peloso GM, Beiser AS, Destefano AL, Seshadri S. Genetic Interaction with Plasma Lipids on Alzheimer's Disease in the Framingham Heart Study. J Alzheimers Dis. 2018; 66(3):1275-1282.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Peloso, Gina
Seshadri, Sudha
PMID: 30412497.
Sarnowski C, Satizabal CL, DeCarli C, Pitsillides AN, Cupples LA, Vasan RS, Wilson JG, Bis JC, Fornage M, Beiser AS, DeStefano AL, Dupuis J, Seshadri S. Whole genome sequence analyses of brain imaging measures in the Framingham Study. Neurology. 2018 Jan 16; 90(3):e188-e196.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Satizabal, Claudia
Dupuis, Josee
Cupples, L
Yang, Qiong
Seshadri, Sudha
Ramachandran, Vasan
PMID: 29282330.
Beecham GW, Bis JC, Martin ER, Choi SH, DeStefano AL, van Duijn CM, Fornage M, Gabriel SB, Koboldt DC, Larson DE, Naj AC, Psaty BM, Salerno W, Bush WS, Foroud TM, Wijsman E, Farrer LA, Goate A, Haines JL, Pericak-Vance MA, Boerwinkle E, Mayeux R, Seshadri S, Schellenberg G. The Alzheimer's Disease Sequencing Project: Study design and sample selection. Neurol Genet. 2017 Oct; 3(5):e194.View Related Profiles.
DeStefano, Anita
Farrer, Lindsay
Seshadri, Sudha
PMID: 29184913.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Jr WTL, Fairchild TJ, Bossù P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairén MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleó A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stählbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, Rotter JI, Lipton RB, et al. RarView Related Profiles.
Beiser, Alexa
DeStefano, Anita
McKee, Ann
Satizabal, Claudia
Jun, Gyungah
Lin, Honghuang
Himali, Jayandra
Dupuis, Josee
Lunetta, Kathryn
Cupples, L
Farrer, Lindsay
Kowall, Neil
Yang, Qiong
Stern, Robert
Seshadri, Sudha
PMID: 28714976.
Huang KL, Marcora E, Pimenova AA, Di Narzo AF, Kapoor M, Jin SC, Harari O, Bertelsen S, Fairfax BP, Czajkowski J, Chouraki V, Grenier-Boley B, Bellenguez C, Deming Y, McKenzie A, Raj T, Renton AE, Budde J, Smith A, Fitzpatrick A, Bis JC, DeStefano A, Adams HHH, Ikram MA, van der Lee S, Del-Aguila JL, Fernandez MV, Ibañez L, Sims R, Escott-Price V, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Lambert JC, van Duijn C, Launer L, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Zhang B, Borecki I, Kauwe JSK, Cruchaga C, Hao K, Goate AM. A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease. Nat Neurosci. 2017 Aug; 20(8):1052-1061.View Related Profiles.
DeStefano, Anita
Farrer, Lindsay
Seshadri, Sudha
PMID: 28628103.
Choi SH, Labadorf AT, Myers RH, Lunetta KL, Dupuis J, DeStefano AL. Evaluation of logistic regression models and effect of covariates for case-control study in RNA-Seq analysis. BMC Bioinformatics. 2017 Feb 06; 18(1):91.View Related Profiles.
DeStefano, Anita
Dupuis, Josee
Lunetta, Kathryn
Myers, Richard
PMID: 28166718; DOI: 10.1186/s12859-017-1498-y;.
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DeStefano, Anita
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Seshadri, Sudha
PMID: 28098162; DOI: 10.1038/ncomms13624;.
Jakobsdottir J, van der Lee SJ, Bis JC, Chouraki V, Li-Kroeger D, Yamamoto S, Grove ML, Naj A, Vronskaya M, Salazar JL, DeStefano AL, Brody JA, Smith AV, Amin N, Sims R, Ibrahim-Verbaas CA, Choi SH, Satizabal CL, Lopez OL, Beiser A, Ikram MA, Garcia ME, Hayward C, Varga TV, Ripatti S, Franks PW, Hallmans G, Rolandsson O, Jansson JH, Porteous DJ, Salomaa V, Eiriksdottir G, Rice KM, Bellen HJ, Levy D, Uitterlinden AG, Emilsson V, Rotter JI, Aspelund T, O'Donnell CJ, Fitzpatrick AL, Launer LJ, Hofman A, Wang LS, Williams J, Schellenberg GD, Boerwinkle E, Psaty BM, Seshadri S, Shulman JM, Gudnason V, van Duijn CM. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 Oct; 12(10):e1006327.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
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PMID: 27764101; DOI: 10.1371/journal.pgen.1006327;.
Wake C, Labadorf A, Dumitriu A, Hoss AG, Bregu J, Albrecht KH, DeStefano AL, Myers RH. Novel microRNA discovery using small RNA sequencing in post-mortem human brain. BMC Genomics. 2016 Oct 04; 17(1):776.View Related Profiles.
Hoss, Andrew
DeStefano, Anita
Albrecht, Kenneth
Myers, Richard
PMID: 27716130.
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Beiser, Alexa
DeStefano, Anita
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PMID: 27694991; DOI: 10.1038/nn.4398;.
Chouraki V, Reitz C, Maury F, Bis JC, Bellenguez C, Yu L, Jakobsdottir J, Mukherjee S, Adams HH, Choi SH, Larson EB, Fitzpatrick A, Uitterlinden AG, de Jager PL, Hofman A, Gudnason V, Vardarajan B, Ibrahim-Verbaas C, van der Lee SJ, Lopez O, Dartigues JF, Berr C, Amouyel P, Bennett DA, van Duijn C, DeStefano AL, Launer LJ, Ikram MA, Crane PK, Lambert JC, Mayeux R, Seshadri S. Evaluation of a Genetic Risk Score to Improve Risk Prediction for Alzheimer's Disease. J Alzheimers Dis. 2016 Jun 18; 53(3):921-32.View Related Profiles.
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Seshadri, Sudha
PMID: 27340842; PMCID: PMC5036102; DOI: 10.3233/JAD-150749;.
Choi SH, Ruggiero D, Sorice R, Song C, Nutile T, Vernon Smith A, Concas MP, Traglia M, Barbieri C, Ndiaye NC, Stathopoulou MG, Lagou V, Maestrale GB, Sala C, Debette S, Kovacs P, Lind L, Lamont J, Fitzgerald P, Tönjes A, Gudnason V, Toniolo D, Pirastu M, Bellenguez C, Vasan RS, Ingelsson E, Leutenegger AL, Johnson AD, DeStefano AL, Visvikis-Siest S, Seshadri S, Ciullo M. Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies. PLoS Genet. 2016 Feb; 12(2):e1005874.View Related Profiles.
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Williams SR, Hsu FC, Keene KL, Chen WM, Nelson S, Southerland AM, Madden EB, Coull B, Gogarten SM, Furie KL, Dzhivhuho G, Rowles JL, Mehndiratta P, Malik R, Dupuis J, Lin H, Seshadri S, Rich SS, Sale MM, Worrall BB. Shared genetic susceptibility of vascular-related biomarkers with ischemic and recurrent stroke. Neurology. 2016 Jan 26; 86(4):351-9.View Related Profiles.
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PMID: 26718567; PMCID: PMC4776093; DOI: 10.1212/WNL.0000000000002319;.
Harris SE, Malik R, Marioni R, Campbell A, Seshadri S, Worrall BB, Sudlow CL, Hayward C, Bastin ME, Starr JM, Porteous DJ, Wardlaw JM, Deary IJ. Polygenic risk of ischemic stroke is associated with cognitive ability. Neurology. 2016 Feb 16; 86(7):611-8.View Related Profiles.
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PMID: 26695942; PMCID: PMC4762420; DOI: 10.1212/WNL.0000000000002306;.
Xing C, Huang J, Hsu YH, DeStefano AL, Heard-Costa NL, Wolf PA, Seshadri S, Kiel DP, Cupples LA, Dupuis J. Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases. Eur J Hum Genet. 2016 Jul; 24(7):1029-34.View Related Profiles.
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PMID: 26577045; DOI: 10.1038/ejhg.2015.244;.
Kunkle BW, Jaworski J, Barral S, Vardarajan B, Beecham GW, Martin ER, Cantwell LS, Partch A, Bird TD, Raskind WH, DeStefano AL, Carney RM, Cuccaro M, Vance JM, Farrer LA, Goate AM, Foroud T, Mayeux RP, Schellenberg GD, Haines JL, Pericak-Vance MA. Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease. Alzheimers Dement. 2016 Jan; 12(1):2-10.View Related Profiles.
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Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. JAMA Neurol. 2015 Jul; 72(7):781-8.View Related Profiles.
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PMID: 25961151; DOI: 10.1001/jamaneurol.2015.0582;.
Ibrahim-Verbaas CA, Bressler J, Debette S, Schuur M, Smith AV, Bis JC, Davies G, Trompet S, Smith JA, Wolf C, Chibnik LB, Liu Y, Vitart V, Kirin M, Petrovic K, Polasek O, Zgaga L, Fawns-Ritchie C, Hoffmann P, Karjalainen J, Lahti J, Llewellyn DJ, Schmidt CO, Mather KA, Chouraki V, Sun Q, Resnick SM, Rose LM, Oldmeadow C, Stewart M, Smith BH, Gudnason V, Yang Q, Mirza SS, Jukema JW, deJager PL, Harris TB, Liewald DC, Amin N, Coker LH, Stegle O, Lopez OL, Schmidt R, Teumer A, Ford I, Karbalai N, Becker JT, Jonsdottir MK, Au R, Fehrmann RS, Herms S, Nalls M, Zhao W, Turner ST, Yaffe K, Lohman K, van Swieten JC, Kardia SL, Knopman DS, Meeks WM, Heiss G, Holliday EG, Schofield PW, Tanaka T, Stott DJ, Wang J, Ridker P, Gow AJ, Pattie A, Starr JM, Hocking LJ, Armstrong NJ, McLachlan S, Shulman JM, Pilling LC, Eiriksdottir G, Scott RJ, Kochan NA, Palotie A, Hsieh YC, Eriksson JG, Penman A, Gottesman RF, Oostra BA, Yu L, DeStefano AL, Beiser A, Garcia M, Rotter JI, Nöthen MM, Hofman A, Slagboom PE, Westendorp RG, Buckley BM, Wolf PA, Uitterlinden AG, Psaty BM, Grabe HJ, Bandinelli S, Chasman DI, Grodstein F, Räikkönen K, Lambert JC, Porteous DJ, Price JF, Sachdev PS, Ferrucci L, Attia JR, Rudan I, Hayward C, Wright AF, Wilson JF, Cichon S, Franke L, Schmidt H, Ding J, de Craen AJ, Fornage M, Bennett DA, Deary IJ, Ikram MA, Launer LJ, Fitzpatrick AL, Seshadri S, van Duijn CM, Mosley TH. GWAS for executive function and processing speed suggests involvement of the CADM2 gene. Mol Psychiatry. 2016 Feb; 21(2):189-97.View Related Profiles.
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Seshadri, Sudha
PMID: 25869804; PMCID: PMC4722802; DOI: 10.1038/mp.2015.37;.
Desikan RS, Schork AJ, Wang Y, Thompson WK, Dehghan A, Ridker PM, Chasman DI, McEvoy LK, Holland D, Chen CH, Karow DS, Brewer JB, Hess CP, Williams J, Sims R, O'Donovan MC, Choi SH, Bis JC, Ikram MA, Gudnason V, DeStefano AL, van der Lee SJ, Psaty BM, van Duijn CM, Launer L, Seshadri S, Pericak-Vance MA, Mayeux R, Haines JL, Farrer LA, Hardy J, Ulstein ID, Aarsland D, Fladby T, White LR, Sando SB, Rongve A, Witoelar A, Djurovic S, Hyman BT, Snaedal J, Steinberg S, Stefansson H, Stefansson K, Schellenberg GD, Andreassen OA, Dale AM. Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease. Circulation. 2015 Jun 9; 131(23):2061-9.View Related Profiles.
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PMID: 25862742; DOI: 10.1161/CIRCULATIONAHA.115.015489;.
van der Lee SJ, Holstege H, Wong TH, Jakobsdottir J, Bis JC, Chouraki V, van Rooij JG, Grove ML, Smith AV, Amin N, Choi SH, Beiser AS, Garcia ME, van IJcken WF, Pijnenburg YA, Louwersheimer E, Brouwer RW, van den Hout MC, Oole E, Eirkisdottir G, Levy D, Rotter JI, Emilsson V, O'Donnell CJ, Aspelund T, Uitterlinden AG, Launer LJ, Hofman A, Boerwinkle E, Psaty BM, DeStefano AL, Scheltens P, Seshadri S, van Swieten JC, Gudnason V, van der Flier WM, Ikram MA, van Duijn CM. PLD3 variants in population studies. Nature. 2015 Apr 2; 520(7545):E2-3.View Related Profiles.
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PMID: 25832410; PMCID: PMC4544703; DOI: 10.1038/nature14038;.
Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L, Haines JL, Psaty BM, Van Broeckhoven C, Holmans P, Launer LJ, Mayeux R, Lathrop M, Goate AM, Escott-Price V, Seshadri S, Pericak-Vance MA, Amouyel P, Williams J, van Duijn CM, Schellenberg GD, Farrer LA. A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry. 2016 Jan; 21(1):108-17.View Related Profiles.
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Desikan RS, Schork AJ, Wang Y, Witoelar A, Sharma M, McEvoy LK, Holland D, Brewer JB, Chen CH, Thompson WK, Harold D, Williams J, Owen MJ, O'Donovan MC, Pericak-Vance MA, Mayeux R, Haines JL, Farrer LA, Schellenberg GD, Heutink P, Singleton AB, Brice A, Wood NW, Hardy J, Martinez M, Choi SH, DeStefano A, Ikram MA, Bis JC, Smith A, Fitzpatrick AL, Launer L, van Duijn C, Seshadri S, Ulstein ID, Aarsland D, Fladby T, Djurovic S, Hyman BT, Snaedal J, Stefansson H, Stefansson K, Gasser T, Andreassen OA, Dale AM. Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry. 2015 Dec; 20(12):1588-95.View Related Profiles.
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PMID: 25687773; PMCID: PMC4539304; DOI: 10.1038/mp.2015.6;.
Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015 Feb 5; 518(7537):102-6.View Related Profiles.
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PMID: 25487149; PMCID: PMC4319990; DOI: 10.1038/nature13917;.
Debette S, Ibrahim Verbaas CA, Bressler J, Schuur M, Smith A, Bis JC, Davies G, Wolf C, Gudnason V, Chibnik LB, Yang Q, deStefano AL, de Quervain DJ, Srikanth V, Lahti J, Grabe HJ, Smith JA, Priebe L, Yu L, Karbalai N, Hayward C, Wilson JF, Campbell H, Petrovic K, Fornage M, Chauhan G, Yeo R, Boxall R, Becker J, Stegle O, Mather KA, Chouraki V, Sun Q, Rose LM, Resnick S, Oldmeadow C, Kirin M, Wright AF, Jonsdottir MK, Au R, Becker A, Amin N, Nalls MA, Turner ST, Kardia SL, Oostra B, Windham G, Coker LH, Zhao W, Knopman DS, Heiss G, Griswold ME, Gottesman RF, Vitart V, Hastie ND, Zgaga L, Rudan I, Polasek O, Holliday EG, Schofield P, Choi SH, Tanaka T, An Y, Perry RT, Kennedy RE, Sale MM, Wang J, Wadley VG, Liewald DC, Ridker PM, Gow AJ, Pattie A, Starr JM, Porteous D, Liu X, Thomson R, Armstrong NJ, Eiriksdottir G, Assareh AA, Kochan NA, Widen E, Palotie A, Hsieh YC, Eriksson JG, Vogler C, van Swieten JC, Shulman JM, Beiser A, Rotter J, Schmidt CO, Hoffmann W, Nöthen MM, Ferrucci L, Attia J, Uitterlinden AG, Amouyel P, Dartigues JF, Amieva H, Räikkönen K, Garcia M, Wolf PA, Hofman A, Longstreth WT, Psaty BM, Boerwinkle E, DeJager PL, Sachdev PS, Schmidt R, Breteler MM, Teumer A, Lopez OL, Cichon S, Chasman DI, Grodstein F, Müller-Myhsok B, Tzourio C, Papassotiropoulos A, Bennett DA, Ikram MA, Deary IJ, van Duijn CM, Launer L, Fitzpatrick AL, Seshadri S, Mosley TH. Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Biol Psychiatry. 2015 Apr 15; 77(8):749-63.View Related Profiles.
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PMID: 25648963; PMCID: PMC4513651; DOI: 10.1016/j.biopsych.2014.08.027;.
French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, Waskiewicz AJ, Lehmann OJ. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. J Clin Invest. 2014 Nov; 124(11):4877-81.View Related Profiles.
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PMID: 25250569; PMCID: PMC4347243; DOI: 10.1172/JCI75109;.
Nalls MA, Bras J, Hernandez DG, Keller MF, Majounie E, Renton AE, Saad M, Jansen I, Guerreiro R, Lubbe S, Plagnol V, Gibbs JR, Schulte C, Pankratz N, Sutherland M, Bertram L, Lill CM, DeStefano AL, Faroud T, Eriksson N, Tung JY, Edsall C, Nichols N, Brooks J, Arepalli S, Pliner H, Letson C, Heutink P, Martinez M, Gasser T, Traynor BJ, Wood N, Hardy J, Singleton AB. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging. 2015 Mar; 36(3):1605.e7-12. PMID: 25444595; PMCID: PMC4317375; DOI: 10.1016/j.neurobiolaging.2014.07.028;.
Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014 Sep; 46(9):989-93.View Related Profiles.
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Bis JC, DeStefano A, Liu X, Brody JA, Choi SH, Verhaaren BF, Debette S, Ikram MA, Shahar E, Butler KR, Gottesman RF, Muzny D, Kovar CL, Psaty BM, Hofman A, Lumley T, Gupta M, Wolf PA, van Duijn C, Gibbs RA, Mosley TH, Longstreth WT, Boerwinkle E, Seshadri S, Fornage M. Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium. PLoS One. 2014; 9(6):e99798.View Related Profiles.
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Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Garcia FS, Fox NC, Hardy J, Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Scarpini E, Bonuccelli U, Mancuso M, Siciliano G, Moebus S, Mecocci P, Zompo MD, Maier W, Hampel H, Pilotto A, Frank-García A, Panza F, Solfrizzi V, Caffarra P, Nacmias B, Perry W, Mayhaus M, Lannfelt L, Hakonarson H, Pichler S, Carrasquillo MM, Ingelsson M, Beekly D, Alvarez V, Zou F, Valladares O, Younkin SG, Coto E, Hamilton-Nelson KL, Gu W, Razquin C, Pastor P, Mateo I, Owen MJ, Faber KM, Jonsson PV, Combarros O, O'Donovan MC, Cantwell LB, Soininen H, Blacker D, Mead S, Mosley TH, Bennett DA, Harris TB, Fratiglioni L, Holmes C, de Bruijn RF, Passmore P, Montine TJ, Bettens K, Rotter JI, Brice A, Morgan K, Foroud TM, Kukull WA, Hannequin D, Powell JF, Nalls MA, Ritchie K, Lunetta KL, Kauwe JS, Boerwinkle E, Riemenschneider M, Boada M, Hiltunen M, Martin ER, Schmidt R, Rujescu D, Dartigues JF, Mayeux R, Tzourio C, Hofman A, Nöthen MM, Graff C, Psaty BM, Haines JL, Lathrop M, Pericak-Vance MA, Launer LJ, Van Broeckhoven C, Farrer LA, van Duijn CM, Ramirez A, Seshadri S, Schellenberg GD, Amouyel P, Williams J. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One. 2014; 9(6):e94661.View Related Profiles.
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Lin H, Wang M, Brody JA, Bis JC, Dupuis J, Lumley T, McKnight B, Rice KM, Sitlani CM, Reid JG, Bressler J, Liu X, Davis BC, Johnson AD, O'Donnell CJ, Kovar CL, Dinh H, Wu Y, Newsham I, Chen H, Broka A, DeStefano AL, Gupta M, Lunetta KL, Liu CT, White CC, Xing C, Zhou Y, Benjamin EJ, Schnabel RB, Heckbert SR, Psaty BM, Muzny DM, Cupples LA, Morrison AC, Boerwinkle E. Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. Circ Cardiovasc Genet. 2014 Jun; 7(3):335-43.View Related Profiles.
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PMID: 24951659; PMCID: PMC4176824; DOI: 10.1161/CIRCGENETICS.113.000350;.
Huang J, Huffman JE, Yamakuchi M, Yamkauchi M, Trompet S, Asselbergs FW, Sabater-Lleal M, Trégouët DA, Chen WM, Smith NL, Kleber ME, Shin SY, Becker DM, Tang W, Dehghan A, Johnson AD, Truong V, Folkersen L, Yang Q, Oudot-Mellkah T, Buckley BM, Moore JH, Williams FM, Campbell H, Silbernagel G, Vitart V, Rudan I, Tofler GH, Navis GJ, Destefano A, Wright AF, Chen MH, de Craen AJ, Worrall BB, Rudnicka AR, Rumley A, Bookman EB, Psaty BM, Chen F, Keene KL, Franco OH, Böhm BO, Uitterlinden AG, Carter AM, Jukema JW, Sattar N, Bis JC, Ikram MA, Sale MM, McKnight B, Fornage M, Ford I, Taylor K, Slagboom PE, McArdle WL, Hsu FC, Franco-Cereceda A, Goodall AH, Yanek LR, Furie KL, Cushman M, Hofman A, Witteman JC, Folsom AR, Basu S, Matijevic N, van Gilst WH, Wilson JF, Westendorp RG, Kathiresan S, Reilly MP, Tracy RP, Polasek O, Winkelmann BR, Grant PJ, Hillege HL, Cambien F, Stott DJ, Lowe GD, Spector TD, Meigs JB, Marz W, Eriksson P, Becker LC, Morange PE, Soranzo N, Williams SM, Hayward C, van der Harst P, Hamsten A, Lowenstein CJ, Strachan DP, O'Donnell CJ. Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2. Arterioscler Thromb Vasc Biol. 2014 May; 34(5):1093-101.View Related Profiles.
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Ibrahim-Verbaas CA, Fornage M, Bis JC, Choi SH, Psaty BM, Meigs JB, Rao M, Nalls M, Fontes JD, O'Donnell CJ, Kathiresan S, Ehret GB, Fox CS, Malik R, Dichgans M, Schmidt H, Lahti J, Heckbert SR, Lumley T, Rice K, Rotter JI, Taylor KD, Folsom AR, Boerwinkle E, Rosamond WD, Shahar E, Gottesman RF, Koudstaal PJ, Amin N, Wieberdink RG, Dehghan A, Hofman A, Uitterlinden AG, Destefano AL, Debette S, Xue L, Beiser A, Wolf PA, Decarli C, Ikram MA, Seshadri S, Mosley TH, Longstreth WT, van Duijn CM, Launer LJ. Predicting stroke through genetic risk functions: the CHARGE Risk Score Project. Stroke. 2014 Feb; 45(2):403-12.View Related Profiles.
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Weinstein G, Beiser AS, Choi SH, Preis SR, Chen TC, Vorgas D, Au R, Pikula A, Wolf PA, DeStefano AL, Vasan RS, Seshadri S. Serum brain-derived neurotrophic factor and the risk for dementia: the Framingham Heart Study. JAMA Neurol. 2014 Jan; 71(1):55-61.View Related Profiles.
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PMID: 24276217; PMCID: PMC4056186; DOI: 10.1001/jamaneurol.2013.4781;.
Dichgans M, Malik R, König IR, Rosand J, Clarke R, Gretarsdottir S, Thorleifsson G, Mitchell BD, Assimes TL, Levi C, O'Donnell CJ, Fornage M, Thorsteinsdottir U, Psaty BM, Hengstenberg C, Seshadri S, Erdmann J, Bis JC, Peters A, Boncoraglio GB, März W, Meschia JF, Kathiresan S, Ikram MA, McPherson R, Stefansson K, Sudlow C, Reilly MP, Thompson JR, Sharma P, Hopewell JC, Chambers JC, Watkins H, Rothwell PM, Roberts R, Markus HS, Samani NJ, Farrall M, Schunkert H. Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. Stroke. 2014 Jan; 45(1):24-36.View Related Profiles.
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PMID: 24262325; PMCID: PMC4112102; DOI: 10.1161/STROKEAHA.113.002707;.
Rosenthal EA, Ranchalis J, Crosslin DR, Burt A, Brunzell JD, Motulsky AG, Nickerson DA, Wijsman EM, Jarvik GP. Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. Am J Hum Genet. 2013 Dec 5; 93(6):1035-45. PMID: 24268658; PMCID: PMC3852929; DOI: 10.1016/j.ajhg.2013.10.019;.
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PMID: 24162737; PMCID: PMC3896259; DOI: 10.1038/ng.2802;.
Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA, Kim C, Milewicz DM. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet. 2013 Aug 8; 93(2):398-404. PMID: 23910461; PMCID: PMC3738837; DOI: 10.1016/j.ajhg.2013.06.019;.
Boada M, Antúnez C, Ramírez-Lorca R, DeStefano AL, González-Pérez A, Gayán J, López-Arrieta J, Ikram MA, Hernández I, Marín J, Galán JJ, Bis JC, Mauleón A, Rosende-Roca M, Moreno-Rey C, Gudnasson V, Morón FJ, Velasco J, Carrasco JM, Alegret M, Espinosa A, Vinyes G, Lafuente A, Vargas L, Fitzpatrick AL, Launer LJ, Sáez ME, Vázquez E, Becker JT, López OL, Serrano-Ríos M, Tárraga L, van Duijn CM, Real LM, Seshadri S, Ruiz A. ATP5H/KCTD2 locus is associated with Alzheimer's disease risk. Mol Psychiatry. 2014 Jun; 19(6):682-7.View Related Profiles.
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PMID: 23857120; PMCID: PMC4031637; DOI: 10.1038/mp.2013.86;.
Schilling S, DeStefano AL, Sachdev PS, Choi SH, Mather KA, DeCarli CD, Wen W, Høgh P, Raz N, Au R, Beiser A, Wolf PA, Romero JR, Zhu YC, Lunetta KL, Farrer L, Dufouil C, Kuller LH, Mazoyer B, Seshadri S, Tzourio C, Debette S. APOE genotype and MRI markers of cerebrovascular disease: systematic review and meta-analysis. Neurology. 2013 Jul 16; 81(3):292-300.View Related Profiles.
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PMID: 23858411; PMCID: PMC3770168; DOI: 10.1212/WNL.0b013e31829bfda4;.
O'Connor TD, Kiezun A, Bamshad M, Rich SS, Smith JD, Turner E, Leal SM, Akey JM. Fine-scale patterns of population stratification confound rare variant association tests. PLoS One. 2013; 8(7):e65834. PMID: 23861739; PMCID: PMC3701690; DOI: 10.1371/journal.pone.0065834;.
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PMID: 23690449; PMCID: PMC3724194; DOI: 10.1182/blood-2013-02-485094;.
Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet. 2013 Apr; 6(2):144-53.View Related Profiles.
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PMID: 23418287; PMCID: PMC3815606; DOI: 10.1161/CIRCGENETICS.111.000062;.
Williams FM, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, Traylor M, Bevan S, Dichgans M, Rothwell PM, Sudlow C, Farrall M, Silander K, Kaunisto M, Wagner P, Saarela O, Kuulasmaa K, Virtamo J, Salomaa V, Amouyel P, Arveiler D, Ferrieres J, Wiklund PG, Ikram MA, Hofman A, Boncoraglio GB, Parati EA, Helgadottir A, Gretarsdottir S, Thorsteinsdottir U, Thorleifsson G, Stefansson K, Seshadri S, DeStefano A, Gschwendtner A, Psaty B, Longstreth W, Mitchell BD, Cheng YC, Clarke R, Ferrario M, Bis JC, Levi C, Attia J, Holliday EG, Scott RJ, Fornage M, Sharma P, Furie KL, Rosand J, Nalls M, Meschia J, Mosely TH, Evans A, Palotie A, Markus HS, Grant PJ, Spector TD. Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Ann Neurol. 2013 Jan; 73(1):16-31.View Related Profiles.
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PMID: 23381943; PMCID: PMC3582024; DOI: 10.1002/ana.23838;.
Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Akey JM. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 2013 Jan 10; 493(7431):216-20.View Related Profiles.
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PMID: 23201682; PMCID: PMC3676746; DOI: 10.1038/nature11690;.
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PMID: 23041239; PMCID: PMC3490334; DOI: 10.1016/S1474-4422(12)70234-X;.
Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Gibson RL, Bamshad MJ. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet. 2012 Aug; 44(8):886-9.View Related Profiles.
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Seshadri, Sudha
PMID: 22772370; PMCID: PMC3702264; DOI: 10.1038/ng.2344;.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB, Jondeau G, Milewicz DM. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet. 2012 Aug; 44(8):916-21.View Related Profiles.
DeStefano, Anita
Seshadri, Sudha
PMID: 22772371; DOI: 10.1038/ng.2348;.
Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS, Kim S, Laje G, Lee PH, Liu X, Loth E, Lourdusamy A, Mattingsdal M, Mohnke S, Maniega SM, Nho K, Nugent AC, O'Brien C, Papmeyer M, Pütz B, Ramasamy A, Rasmussen J, Rijpkema M, Risacher SL, Roddey JC, Rose EJ, Ryten M, Shen L, Sprooten E, Strengman E, Teumer A, Trabzuni D, Turner J, van Eijk K, van Erp TG, van Tol MJ, Wittfeld K, Wolf C, Woudstra S, Aleman A, Alhusaini S, Almasy L, Binder EB, Brohawn DG, Cantor RM, Carless MA, Corvin A, Czisch M, Curran JE, Davies G, de Almeida MA, Delanty N, Depondt C, Duggirala R, Dyer TD, Erk S, Fagerness J, Fox PT, Freimer NB, Gill M, Göring HH, Hagler DJ, Hoehn D, Holsboer F, Hoogman M, Hosten N, Jahanshad N, Johnson MP, Kasperaviciute D, Kent JW, Kochunov P, Lancaster JL, Lawrie SM, Liewald DC, Mandl R, Matarin M, Mattheisen M, Meisenzahl E, Melle I, Moses EK, Mühleisen TW, Nauck M, Nöthen MM, Olvera RL, Pandolfo M, Pike GB, Puls R, Reinvang I, Rentería ME, Rietschel M, Roffman JL, Royle NA, Rujescu D, Savitz J, Schnack HG, Schnell K, Seiferth N, Smith C, Steen VM, Valdés Hernández MC, Van den Heuvel M, van der Wee NJ, Van Haren NE, Veltman JA, Völzke H, Walker R, Westlye LT, Whelan CD, Agartz I, Boomsma DI, Cavalleri GL, Dale AM, Djurovic S, Drevets WC, Hagoort P, Hall J, Heinz A, Jack CR, Foroud TM, Le Hellard S, Macciardi F, Montgomery GW, Poline JB, Porteous DJ, Sisodiya SM, Starr JM, Sussmann J, Toga AW, Veltman DJ, Walter H, Weiner MW, Bis JC, Ikram MA, Smith AV, Gudnason V, Tzourio C, Vernooij MW, Launer LJ, DeCarli C, Seshadri S, Andreassen OA, Apostolova LG, Bastin ME, Blangero J, Brunner HG, Buckner RL, Cichon S, Coppola G, de Zubicaray GI, Deary IJ, Donohoe G, de Geus EJ, Espeseth T, Fernández G, Glahn DC, Grabe HJ, Hardy J, Hulshoff Pol HE, Jenkinson M, Kahn RS, McDonald C, McIntosh AM, McMahon FJ, McMahon KL, Meyer-Lindenberg A, Morris DW, Müller-Myhsok B, Nichols TE, Ophoff RA, Paus T, Pausova Z, Penninx BW, Potkin SG, Sämann PG, Saykin AJ, Schumann G, Smoller JW, Wardlaw JM, Weale ME, Martin NG, Franke B, Wright MJ, Thompson PM. Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet. 2012 May; 44(5):552-61.View Related Profiles.
DeStefano, Anita
Seshadri, Sudha
PMID: 22504417; PMCID: PMC3635491; DOI: 10.1038/ng.2250;.
Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Taal HR, Mook-Kanamori DO, Coker LH, Longstreth WT, Niessen WJ, DeStefano AL, Beiser A, Zijdenbos AP, Struchalin M, Jack CR, Rivadeneira F, Uitterlinden AG, Knopman DS, Hartikainen AL, Pennell CE, Thiering E, Steegers EA, Hakonarson H, Heinrich J, Palmer LJ, Jarvelin MR, McCarthy MI, Grant SF, St Pourcain B, Timpson NJ, Smith GD, Sovio U, Nalls MA, Au R, Hofman A, Gudnason H, van der Lugt A, Harris TB, Meeks WM, Vernooij MW, van Buchem MA, Catellier D, Jaddoe VW, Gudnason V, Windham BG, Wolf PA, van Duijn CM, Mosley TH, Schmidt H, Launer LJ, Breteler MM, DeCarli C. Common variants at 6q22 and 17q21 are associated with intracranial volume. Nat Genet. 2012 May; 44(5):539-44.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Wolf, Philip
Au, Rhoda
Seshadri, Sudha
PMID: 22504418; PMCID: PMC3618290; DOI: 10.1038/ng.2245;.
Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, Ikram MA, Beilin LJ, Bønnelykke K, Buxton JL, Charoen P, Chawes BL, Eriksson J, Evans DM, Hofman A, Kemp JP, Kim CE, Klopp N, Lahti J, Lye SJ, McMahon G, Mentch FD, Müller-Nurasyid M, O'Reilly PF, Prokopenko I, Rivadeneira F, Steegers EA, Sunyer J, Tiesler C, Yaghootkar H, Breteler MM, Decarli C, Breteler MM, Debette S, Fornage M, Gudnason V, Launer LJ, van der Lugt A, Mosley TH, Seshadri S, Smith AV, Vernooij MW, Blakemore AI, Chiavacci RM, Feenstra B, Fernandez-Banet J, Grant SF, Hartikainen AL, van der Heijden AJ, Iñiguez C, Lathrop M, McArdle WL, Mølgaard A, Newnham JP, Palmer LJ, Palotie A, Pouta A, Ring SM, Sovio U, Standl M, Uitterlinden AG, Wichmann HE, Vissing NH, DeCarli C, van Duijn CM, McCarthy MI, Koppelman GH, Estivill X, Hattersley AT, Melbye M, Bisgaard H, Pennell CE, Widen E, Hakonarson H, Smith GD, Heinrich J, Jarvelin MR, Jaddoe VW. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nat Genet. 2012 May; 44(5):532-8.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Seshadri, Sudha
PMID: 22504419; PMCID: PMC3773913; DOI: 10.1038/ng.2238;.
Bis JC, DeCarli C, Smith AV, van der Lijn F, Crivello F, Fornage M, Debette S, Shulman JM, Schmidt H, Srikanth V, Schuur M, Yu L, Choi SH, Sigurdsson S, Verhaaren BF, DeStefano AL, Lambert JC, Jack CR, Struchalin M, Stankovich J, Ibrahim-Verbaas CA, Fleischman D, Zijdenbos A, den Heijer T, Mazoyer B, Coker LH, Enzinger C, Danoy P, Amin N, Arfanakis K, van Buchem MA, de Bruijn RF, Beiser A, Dufouil C, Huang J, Cavalieri M, Thomson R, Niessen WJ, Chibnik LB, Gislason GK, Hofman A, Pikula A, Amouyel P, Freeman KB, Phan TG, Oostra BA, Stein JL, Medland SE, Vasquez AA, Hibar DP, Wright MJ, Franke B, Martin NG, Thompson PM, Nalls MA, Uitterlinden AG, Au R, Elbaz A, Beare RJ, van Swieten JC, Lopez OL, Harris TB, Chouraki V, Breteler MM, De Jager PL, Becker JT, Vernooij MW, Knopman D, Fazekas F, Wolf PA, van der Lugt A, Gudnason V, Longstreth WT, Brown MA, Bennett DA, van Duijn CM, Mosley TH, Schmidt R, Tzourio C, Launer LJ, Ikram MA, Seshadri S. Common variants at 12q14 and 12q24 are associated with hippocampal volume. Nat Genet. 2012 May; 44(5):545-51.View Related Profiles.
Pikula, Aleksandra
Beiser, Alexa
DeStefano, Anita
Chibnik, Lori
Wolf, Philip
Au, Rhoda
Seshadri, Sudha
PMID: 22504421; PMCID: PMC3427729; DOI: 10.1038/ng.2237;.
Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP, Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet. 2012; 8(3):e1002548.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Myers, Richard
PMID: 22438815; PMCID: PMC3305333; DOI: 10.1371/journal.pgen.1002548;.
Dumitriu A, Moser C, Hadzi TC, Williamson SL, Pacheco CD, Hendricks AE, Latourelle JC, Wilk JB, Destefano AL, Myers RH. Postmortem Interval Influences a-Synuclein Expression in Parkinson Disease Brain. Parkinsons Dis. 2012; 2012:614212.View Related Profiles.
Dumitriu, Alexandra
DeStefano, Anita
Pacheco, Christopher
Latourelle, Jeanne
Myers, Richard
PMID: 22530163; PMCID: PMC3317023; DOI: 10.1155/2012/614212;.
Pankratz N, Beecham GW, DeStefano AL, Dawson TM, Doheny KF, Factor SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ, Krainc D, Latourelle JC, Clark LN, Marder K, Martin ER, Mayeux R, Ross OA, Scherzer CR, Simon DK, Tanner C, Vance JM, Wszolek ZK, Zabetian CP, Myers RH, Payami H, Scott WK, Foroud T. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol. 2012 Mar; 71(3):370-84.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Myers, Richard
PMID: 22451204; PMCID: PMC3354734; DOI: 10.1002/ana.22687;.
Ngwa JS, Manning AK, Grimsby JL, Lu C, Zhuang WV, Destefano AL. Pathway analysis following association study. BMC Proc. 2011; 5 Suppl 9:S18. PMID: 22373100; DOI: 10.1186/1753-6561-5-S9-S18;.
Ghosh S, Bickeböller H, Bailey J, Bailey-Wilson JE, Cantor R, Culverhouse R, Daw W, Destefano AL, Engelman CD, Hinrichs A, Houwing-Duistermaat J, König IR, Kent J, Laird N, Pankratz N, Paterson A, Pugh E, Suarez B, Sun Y, Thomas A, Tintle N, Zhu X, Ziegler A, Maccluer JW, Almasy L. Identifying rare variants from exome scans: the GAW17 experience. BMC Proc. 2011; 5 Suppl 9:S1. PMID: 22373325; DOI: 10.1186/1753-6561-5-S9-S1;.
Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, Ehret GB, Amin N, Larson MG, Mooser V, Hadley D, Dörr M, Bis JC, Aspelund T, Esko T, Janssens AC, Zhao JH, Heath S, Laan M, Fu J, Pistis G, Luan J, Arora P, Lucas G, Pirastu N, Pichler I, Jackson AU, Webster RJ, Zhang F, Peden JF, Schmidt H, Tanaka T, Campbell H, Igl W, Milaneschi Y, Hottenga JJ, Vitart V, Chasman DI, Trompet S, Bragg-Gresham JL, Alizadeh BZ, Chambers JC, Guo X, Lehtimäki T, Kühnel B, Lopez LM, Polašek O, Boban M, Nelson CP, Morrison AC, Pihur V, Ganesh SK, Hofman A, Kundu S, Mattace-Raso FU, Rivadeneira F, Sijbrands EJ, Uitterlinden AG, Hwang SJ, Vasan RS, Wang TJ, Bergmann S, Vollenweider P, Waeber G, Laitinen J, Pouta A, Zitting P, McArdle WL, Kroemer HK, Völker U, Völzke H, Glazer NL, Taylor KD, Harris TB, Alavere H, Haller T, Keis A, Tammesoo ML, Aulchenko Y, Barroso I, Khaw KT, Galan P, Hercberg S, Lathrop M, Eyheramendy S, Org E, Sõber S, Lu X, Nolte IM, Penninx BW, Corre T, Masciullo C, Sala C, Groop L, Voight BF, Melander O, O'Donnell CJ, Salomaa V, d'Adamo AP, Fabretto A, Faletra F, Ulivi S, Del Greco F, Facheris M, Collins FS, Bergman RN, Beilby JP, Hung J, Musk AW, Mangino M, Shin SY, Soranzo N, Watkins H, Goel A, Hamsten A, Gider P, Loitfelder M, Zeginigg M, Hernandez D, Najjar SS, Navarro P, Wild SH, Corsi AM, Singleton A, de Geus EJ, Willemsen G, Parker AN, Rose LM, Buckley B, Stott D, Orru M, Uda M, van der Klauw MM, Zhang W, Li X, Scott J, Chen YD, Burke GL, Kähönen M, Viikari J, Döring A, Meitinger T, Davies G, Starr JM, Emilsson V, Plump A, Lindeman JH, Hoen PA, König IR, Felix JF, Clarke R, Hopewell JC, Ongen H, Breteler M, Debette S, Destefano AL, Fornage M, Mitchell GF, Smith NL, Holm H, Stefansson K, Thorleifsson G, Thorsteinsdottir U, Samani NJ, Preuss M, Rudan I, Hayward C, Deary IJ, Wichmann HE, Raitakari OT, Palmas W, Kooner JS, Stolk RP, Jukema JW, Wright AF, Boomsma DI, Bandinelli S, Gyllensten UB, Wilson JF, Ferrucci L, Schmidt R, Farrall M, Spector TD, Palmer LJ, Tuomilehto J, Pfeufer A, Gasparini P, Siscovick D, Altshuler D, Loos RJ, Toniolo D, Snieder H, Gieger C, Meneton P, Wareham NJ, Oostra BA, Metspalu A, Launer L, Rettig R, Strachan DP, Beckmann JS, Witteman JC, Erdmann J, van Dijk KW, Boerwinkle E, Boehnke M, Ridker PM, Jarvelin MR, Chakravarti A, Abecasis GR, Gudnason V, Newton-Cheh C, Levy D, Munroe PB, Psaty BM, Caulfield MJ, Rao DC, Tobin MD, Elliott P, van Duijn CM. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet. 2011 Oct; 43(10):1005-11.View Related Profiles.
DeStefano, Anita
Larson, Martin
Hwang, Shih-Jen
Ramachandran, Vasan
PMID: 21909110; PMCID: PMC3445021; DOI: 10.1038/ng.922;.
Pankratz N, Dumitriu A, Hetrick KN, Sun M, Latourelle JC, Wilk JB, Halter C, Doheny KF, Gusella JF, Nichols WC, Myers RH, Foroud T, DeStefano AL. Copy number variation in familial Parkinson disease. PLoS One. 2011; 6(8):e20988.View Related Profiles.
Dumitriu, Alexandra
DeStefano, Anita
Latourelle, Jeanne
Myers, Richard
PMID: 21829596; PMCID: PMC3149037; DOI: 10.1371/journal.pone.0020988;.
Debette S, Visvikis-Siest S, Chen MH, Ndiaye NC, Song C, Destefano A, Safa R, Azimi Nezhad M, Sawyer D, Marteau JB, Xanthakis V, Siest G, Sullivan L, Pfister M, Smith H, Choi SH, Lamont J, Lind L, Yang Q, Fitzgerald P, Ingelsson E, Vasan RS, Seshadri S. Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels. Circ Res. 2011 Aug 19; 109(5):554-63.View Related Profiles.
DeStefano, Anita
Sullivan, Lisa
Yang, Qiong
Seshadri, Sudha
Xanthakis, Vanessa
Ramachandran, Vasan
PMID: 21757650; PMCID: PMC3193930; DOI: 10.1161/CIRCRESAHA.111.243790;.
Latourelle JC, Hendricks AE, Pankratz N, Wilk JB, Halter C, Nichols WC, Gusella JF, Destefano AL, Myers RH, Foroud T. Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease. Mov Disord. 2011 Sep; 26(11):2039-44.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Myers, Richard
PMID: 21661047; PMCID: PMC3346677; DOI: 10.1002/mds.23781;.
Fornage M, Debette S, Bis JC, Schmidt H, Ikram MA, Dufouil C, Sigurdsson S, Lumley T, DeStefano AL, Fazekas F, Vrooman HA, Shibata DK, Maillard P, Zijdenbos A, Smith AV, Gudnason H, de Boer R, Cushman M, Mazoyer B, Heiss G, Vernooij MW, Enzinger C, Glazer NL, Beiser A, Knopman DS, Cavalieri M, Niessen WJ, Harris TB, Petrovic K, Lopez OL, Au R, Lambert JC, Hofman A, Gottesman RF, Garcia M, Heckbert SR, Atwood LD, Catellier DJ, Uitterlinden AG, Yang Q, Smith NL, Aspelund T, Romero JR, Rice K, Taylor KD, Nalls MA, Rotter JI, Sharrett R, van Duijn CM, Amouyel P, Wolf PA, Gudnason V, van der Lugt A, Boerwinkle E, Psaty BM, Seshadri S, Tzourio C, Breteler MM, Mosley TH, Schmidt R, Longstreth WT, DeCarli C, Launer LJ. Genome-wide association studies of cerebral white matter lesion burden: the CHARGE consortium. Ann Neurol. 2011 Jun; 69(6):928-39.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Romero, Jose
Glazer, Nicole
Wolf, Philip
Yang, Qiong
Au, Rhoda
Seshadri, Sudha
PMID: 21681796; PMCID: PMC3122147; DOI: 10.1002/ana.22403;.
Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC, van Duijn CM, Breteler MM, Ikram MA, DeStefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snaedal J, Björnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossù P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011 May; 43(5):429-35.View Related Profiles.
DeStefano, Anita
Seshadri, Sudha
PMID: 21460840; PMCID: PMC3084173; DOI: 10.1038/ng.803;.
Broer L, Ikram MA, Schuur M, DeStefano AL, Bis JC, Liu F, Rivadeneira F, Uitterlinden AG, Beiser AS, Longstreth WT, Hofman A, Aulchenko Y, Seshadri S, Fitzpatrick AL, Oostra BA, Breteler MM, van Duijn CM. Association of HSP70 and its co-chaperones with Alzheimer's disease. J Alzheimers Dis. 2011; 25(1):93-102.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Seshadri, Sudha
PMID: 21403392; PMCID: PMC3483142; DOI: 10.3233/JAD-2011-101560;.
Chen GK, Chen G, Wei P, DeStefano AL. Incorporating biological information into association studies of sequencing data. Genet Epidemiol. 2011; 35 Suppl 1:S29-34. PMID: 22128055; PMCID: PMC3635488; DOI: 10.1002/gepi.20646;.
Latourelle JC, Dybdahl M, Destefano AL, Myers RH, Lash TL. Estrogen-related and other disease diagnoses preceding Parkinson's disease. Clin Epidemiol. 2010; 2:153-70.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Myers, Richard
PMID: 20865113; PMCID: PMC2943181.
Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M, Bis JC, Smith AV, Carassquillo MM, Lambert JC, Harold D, Schrijvers EM, Ramirez-Lorca R, Debette S, Longstreth WT, Janssens AC, Pankratz VS, Dartigues JF, Hollingworth P, Aspelund T, Hernandez I, Beiser A, Kuller LH, Koudstaal PJ, Dickson DW, Tzourio C, Abraham R, Antunez C, Du Y, Rotter JI, Aulchenko YS, Harris TB, Petersen RC, Berr C, Owen MJ, Lopez-Arrieta J, Varadarajan BN, Becker JT, Rivadeneira F, Nalls MA, Graff-Radford NR, Campion D, Auerbach S, Rice K, Hofman A, Jonsson PV, Schmidt H, Lathrop M, Mosley TH, Au R, Psaty BM, Uitterlinden AG, Farrer LA, Lumley T, Ruiz A, Williams J, Amouyel P, Younkin SG, Wolf PA, Launer LJ, Lopez OL, van Duijn CM, Breteler MM. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010 May 12; 303(18):1832-40.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Farrer, Lindsay
Wolf, Philip
Au, Rhoda
Auerbach, Sanford
Seshadri, Sudha
PMID: 20460622; PMCID: PMC2989531; DOI: 10.1001/jama.2010.574;.
Latourelle JC, Dybdahl M, Destefano AL, Myers RH, Lash TL. Risk of Parkinson's disease after tamoxifen treatment. BMC Neurol. 2010; 10:23.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Myers, Richard
PMID: 20385012; PMCID: PMC2862029; DOI: 10.1186/1471-2377-10-23;.
Seshadri S, Beiser A, Pikula A, Himali JJ, Kelly-Hayes M, Debette S, DeStefano AL, Romero JR, Kase CS, Wolf PA. Parental occurrence of stroke and risk of stroke in their children: the Framingham study. Circulation. 2010 Mar 23; 121(11):1304-12.View Related Profiles.
Pikula, Aleksandra
Beiser, Alexa
DeStefano, Anita
Kase, Carlos
Himali, Jayandra
Romero, Jose
Kelly-Hayes, Margaret
Wolf, Philip
Seshadri, Sudha
PMID: 20212282; PMCID: PMC2860311; DOI: 10.1161/CIRCULATIONAHA.109.854240;.
Debette S, Bis JC, Fornage M, Schmidt H, Ikram MA, Sigurdsson S, Heiss G, Struchalin M, Smith AV, van der Lugt A, DeCarli C, Lumley T, Knopman DS, Enzinger C, Eiriksdottir G, Koudstaal PJ, DeStefano AL, Psaty BM, Dufouil C, Catellier DJ, Fazekas F, Aspelund T, Aulchenko YS, Beiser A, Rotter JI, Tzourio C, Shibata DK, Tscherner M, Harris TB, Rivadeneira F, Atwood LD, Rice K, Gottesman RF, van Buchem MA, Uitterlinden AG, Kelly-Hayes M, Cushman M, Zhu Y, Boerwinkle E, Gudnason V, Hofman A, Romero JR, Lopez O, van Duijn CM, Au R, Heckbert SR, Wolf PA, Mosley TH, Seshadri S, Breteler MM, Schmidt R, Launer LJ, Longstreth WT. Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium. Stroke. 2010 Feb; 41(2):210-7.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Romero, Jose
Atwood, Larry
Kelly-Hayes, Margaret
Wolf, Philip
Au, Rhoda
Seshadri, Sudha
PMID: 20044523; PMCID: PMC2923092; DOI: 10.1161/STROKEAHA.109.569194;.
Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T. Genomewide association study for onset age in Parkinson disease. BMC Med Genet. 2009; 10:98.View Related Profiles.
Dumitriu, Alexandra
DeStefano, Anita
Latourelle, Jeanne
Myers, Richard
PMID: 19772629; PMCID: PMC2758866; DOI: 10.1186/1471-2350-10-98;.
DeStefano AL, Seshadri S, Beiser A, Atwood LD, Massaro JM, Au R, Wolf PA, DeCarli C. Bivariate heritability of total and regional brain volumes: the Framingham Study. Alzheimer Dis Assoc Disord. 2009 Jul-Sep; 23(3):218-23.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Atwood, Larry
Wolf, Philip
Au, Rhoda
Seshadri, Sudha
PMID: 19812462; PMCID: PMC2760008; DOI: 10.1097/WAD.0b013e31819cadd8;.
Ikram MA, Seshadri S, Bis JC, Fornage M, DeStefano AL, Aulchenko YS, Debette S, Lumley T, Folsom AR, van den Herik EG, Bos MJ, Beiser A, Cushman M, Launer LJ, Shahar E, Struchalin M, Du Y, Glazer NL, Rosamond WD, Rivadeneira F, Kelly-Hayes M, Lopez OL, Coresh J, Hofman A, DeCarli C, Heckbert SR, Koudstaal PJ, Yang Q, Smith NL, Kase CS, Rice K, Haritunians T, Roks G, de Kort PL, Taylor KD, de Lau LM, Oostra BA, Uitterlinden AG, Rotter JI, Boerwinkle E, Psaty BM, Mosley TH, van Duijn CM, Breteler MM, Longstreth WT, Wolf PA. Genomewide association studies of stroke. N Engl J Med. 2009 Apr 23; 360(17):1718-28.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Kase, Carlos
Kelly-Hayes, Margaret
Glazer, Nicole
Wolf, Philip
Yang, Qiong
Seshadri, Sudha
PMID: 19369658; PMCID: PMC2768348; DOI: 10.1056/NEJMoa0900094;.
Cui J, Taylor KE, Destefano AL, Criswell LA, Izmailova ES, Parker A, Roubenoff R, Plenge RM, Weinblatt ME, Shadick NA, Karlson EW. Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis. Mol Med. 2009 May-Jun; 15(5-6):136-43. PMID: 19287509; DOI: 10.2119/molmed.2009.00008;.
Guo CY, Lunetta KL, DeStefano AL, Cupples LA. Combined haplotype relative risk (CHRR): a general and simple genetic association test that combines trios and unrelated case-controls. Genet Epidemiol. 2009 Jan; 33(1):54-62.View Related Profiles.
DeStefano, Anita
Lunetta, Kathryn
Cupples, L
PMID: 18636528; PMCID: PMC2700841; DOI: 10.1002/gepi.20356;.
Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet. 2009 Jan; 124(6):593-605.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Myers, Richard
PMID: 18985386; PMCID: PMC2627511; DOI: 10.1007/s00439-008-0582-9;.
Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, DeStefano AL, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med. 2008; 6:32.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 18986508; PMCID: PMC2596771; DOI: 10.1186/1741-7015-6-32;.
McNicoll CF, Latourelle JC, MacDonald ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. Mov Disord. 2008 Aug 15; 23(11):1596-601.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 18649400; PMCID: PMC2655323; DOI: 10.1002/mds.22186;.
DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint-Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet. 2008 Aug; 124(1):95-9.View Related Profiles.
Gower, Adam
DeStefano, Anita
Latourelle, Jeanne
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 18587682; PMCID: PMC2716559; DOI: 10.1007/s00439-008-0526-4;.
Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology. 2008 Jul 1; 71(1):28-34.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Saint-Hilaire, Marie-Helene
Moss, Mark
Myers, Richard
PMID: 18509094; PMCID: PMC2654275; DOI: 10.1212/01.wnl.0000304051.01650.23;.
Meng Y, Yang Q, Cuenco KT, Cupples LA, Destefano AL, Lunetta KL. Two-stage approach for identifying single-nucleotide polymorphisms associated with rheumatoid arthritis using random forests and Bayesian networks. BMC Proc. 2007; 1 Suppl 1:S56.View Related Profiles.
DeStefano, Anita
Lunetta, Kathryn
Cupples, L
Yang, Qiong
PMID: 18466556; PMCID: PMC2367609.
Seshadri S, DeStefano AL, Au R, Massaro JM, Beiser AS, Kelly-Hayes M, Kase CS, D'Agostino RB, Decarli C, Atwood LD, Wolf PA. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. BMC Med Genet. 2007; 8 Suppl 1:S15.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Kase, Carlos
Massaro, Joseph
Kelly-Hayes, Margaret
Wolf, Philip
D'Agostino, Ralph
Au, Rhoda
Seshadri, Sudha
PMID: 17903297; PMCID: PMC1995608.
Laramie JM, Wilk JB, DeStefano AL, Myers RH. HaploBuild: an algorithm to construct non-contiguous associated haplotypes in family based genetic studies. Bioinformatics. 2007 Aug 15; 23(16):2190-2.View Related Profiles.
DeStefano, Anita
Myers, Richard
PMID: 17586827; PMCID: PMC2665175.
Guo CY, Lunetta KL, DeStefano AL, Ordovas JM, Cupples LA. Informative-transmission disequilibrium test (i-TDT): combined linkage and association mapping that includes unaffected offspring as well as affected offspring. Genet Epidemiol. 2007 Feb; 31(2):115-33.View Related Profiles.
DeStefano, Anita
Lunetta, Kathryn
Cupples, L
PMID: 17123304.
Tobin JE, Cui J, Wilk JB, Latourelle JC, Laramie JM, McKee AC, Guttman M, Karamohamed S, DeStefano AL, Myers RH. Sepiapterin reductase expression is increased in Parkinson's disease brain tissue. Brain Res. 2007 Mar 30; 1139:42-7.View Related Profiles.
DeStefano, Anita
McKee, Ann
Latourelle, Jeanne
Myers, Richard
PMID: 17270157; PMCID: PMC1868471.
Ziegler A, DeStefano AL, König IR, Bardel C, Brinza D, Bull S, Cai Z, Glaser B, Jiang W, Lee KE, Li CX, Li J, Li X, Majoram P, Meng Y, Nicodemus KK, Platt A, Schwarz DF, Shi W, Shugart YY, Stassen HH, Sun YV, Won S, Wang W, Wahba G, Zagaar UA, Zhao Z. Data mining, neural nets, trees--problems 2 and 3 of Genetic Analysis Workshop 15. Genet Epidemiol. 2007; 31 Suppl 1:S51-60. PMID: 18046765.
Cupples LA, Arruda HT, Benjamin EJ, D'Agostino RB, Demissie S, DeStefano AL, Dupuis J, Falls KM, Fox CS, Gottlieb DJ, Govindaraju DR, Guo CY, Heard-Costa NL, Hwang SJ, Kathiresan S, Kiel DP, Laramie JM, Larson MG, Levy D, Liu CY, Lunetta KL, Mailman MD, Manning AK, Meigs JB, Murabito JM, Newton-Cheh C, O'Connor GT, O'Donnell CJ, Pandey M, Seshadri S, Vasan RS, Wang ZY, Wilk JB, Wolf PA, Yang Q, Atwood LD. The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC Med Genet. 2007; 8 Suppl 1:S1.View Related Profiles.
DeStefano, Anita
Liu, Chunyu
Benjamin, Emelia
O'Connor, George
Murabito, Joanne
Dupuis, Josee
Lunetta, Kathryn
Cupples, L
Larson, Martin
Heard-Costa, Nancy
Wolf, Philip
Yang, Qiong
D'Agostino, Ralph
Demissie, Serkalem
Hwang, Shih-Jen
Seshadri, Sudha
Ramachandran, Vasan
PMID: 17903291; PMCID: PMC1995613.
Wilk JB, Tobin JE, Suchowersky O, Shill HA, Klein C, Wooten GF, Lew MF, Mark MH, Guttman M, Watts RL, Singer C, Growdon JH, Latourelle JC, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker KB, Giroux ML, Litvan I, Pramstaller PP, Nicholson G, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI. Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: the GenePD Study. Neurology. 2006 Dec 26; 67(12):2206-10.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 17190945.
Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006 Jun; 63(6):826-32.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 16769863.
Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew M, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire M, DeStefano AL, Prakash R, Tobin S, Williamson J, Suchowersky O, Labell N, Growdon BN, Singer C, Watts R, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery P, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A. BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study. Neurology. 2005 Dec 13; 65(11):1823-5.View Related Profiles.
DeStefano, Anita
Latourelle, Jeanne
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 16344533.
DeStefano AL, Atwood LD, Massaro JM, Heard-Costa N, Beiser A, Au R, Wolf PA, DeCarli C. Genome-wide scan for white matter hyperintensity: the Framingham Heart Study. Stroke. 2006 Jan; 37(1):77-81.View Related Profiles.
Beiser, Alexa
DeStefano, Anita
Massaro, Joseph
Heard-Costa, Nancy
Wolf, Philip
Au, Rhoda
PMID: 16322484.
Karamohamed S, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Liu J, Shoemaker CM, Wilk JB, DeStefano AL, Latourelle JC, 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, Herbert A, Myers RH. Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study. Mov Disord. 2005 Sep; 20(9):1188-91.View Related Profiles.
Herbert, Alan
DeStefano, Anita
Latourelle, Jeanne
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 15966003.
Russo CJ, Melista E, Cui J, DeStefano AL, Bakris GL, Manolis AJ, Gavras H, Baldwin CT. Association of NEDD4L ubiquitin ligase with essential hypertension. Hypertension. 2005 Sep; 46(3):488-91.View Related Profiles.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
PMID: 16103266.
Mitchell GF, DeStefano AL, Larson MG, Benjamin EJ, Chen MH, Vasan RS, Vita JA, Levy D. Heritability and a genome-wide linkage scan for arterial stiffness, wave reflection, and mean arterial pressure: the Framingham Heart Study. Circulation. 2005 Jul 12; 112(2):194-9.View Related Profiles.
DeStefano, Anita
Benjamin, Emelia
Vita, Joseph
Larson, Martin
Chen, Ming-Huei
Ramachandran, Vasan
PMID: 15998672.
Guo CY, DeStefano AL, Lunetta KL, Dupuis J, Cupples LA. Expectation maximization algorithm based haplotype relative risk (EM-HRR): test of linkage disequilibrium using incomplete case-parents trios. Hum Hered. 2005; 59(3):125-35.View Related Profiles.
DeStefano, Anita
Dupuis, Josee
Lunetta, Kathryn
Cupples, L
PMID: 15867473.
Cui J, Melista E, Chazaro I, Zhang Y, Zhou X, Manolis AJ, Baldwin CT, Destefano AL, Gavras H. Sequence variation of bradykinin receptors B1 and B2 and association with hypertension. J Hypertens. 2005 Jan; 23(1):55-62.View Related Profiles.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
PMID: 15643125.
Zhou XF, Cui J, DeStefano AL, Chazaro I, Farrer LA, Manolis AJ, Gavras H, Baldwin CT. Polymorphisms in the promoter region of catalase gene and essential hypertension. Dis Markers. 2005; 21(1):3-7.View Related Profiles.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
Farrer, Lindsay
PMID: 15735318.
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.
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.
DeStefano, Anita
Benjamin, Emelia
Larson, Martin
Ramachandran, Vasan
PMID: 15210652.
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.
DeStefano, Anita
Myers, Richard
Ellison, Robert
PMID: 15197684; PMCID: PMC1216056.
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.
DeStefano, Anita
Cupples, L
Larson, Martin
Yang, Qiong
Demissie, Serkalem
PMID: 14975097; PMCID: PMC1866464.
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.
Herbert, Alan
DeStefano, Anita
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 14663042.
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.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
PMID: 14553966.
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.
Herbert, Alan
DeStefano, Anita
O'Connor, George
Cupples, L
Heard-Costa, Nancy
Myers, Richard
PMID: 12966033.
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.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
Farrer, Lindsay
PMID: 12719438.
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.
DeStefano, Anita
Cupples, L
Myers, Richard
PMID: 12637344.
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.
DeStefano, Anita
Baldwin, Clinton
Heard-Costa, Nancy
Myers, Richard
PMID: 12622536.
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.
DeStefano, Anita
Baldwin, Clinton
Myers, Richard
PMID: 12461698.
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.
DeStefano, Anita
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 11920285; PMCID: PMC447587.
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.
DeStefano, Anita
Saint-Hilaire, Marie-Helene
Myers, Richard
PMID: 11571351.
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.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
Gavras, Irene
Farrer, Lindsay
Heard-Costa, Nancy
PMID: 11531965.
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.
DeStefano, Anita
Heard-Costa, Nancy
Myers, Richard
Demissie, Serkalem
PMID: 11793700.
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.
DeStefano, Anita
Cupples, L
Heard-Costa, Nancy
Myers, Richard
Demissie, Serkalem
PMID: 11793720.
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.
DeStefano, Anita
Gavras, Haralambos
Larson, Martin
Myers, Richard
PMID: 11040222.
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.
DeStefano, Anita
Myers, Richard
PMID: 10814713.
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.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
Gavras, Irene
Cupples, L
Farrer, Lindsay
PMID: 10657427.
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.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
Gavras, Irene
Farrer, Lindsay
PMID: 10509541.
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.
DeStefano, Anita
Milunsky, Aubrey
Baldwin, Clinton
PMID: 10466422.
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.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
Gavras, Irene
Farrer, Lindsay
PMID: 10406815.
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.
DeStefano, Anita
Farrer, Lindsay
PMID: 10597513.
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.
DeStefano, Anita
Farrer, Lindsay
Myers, Richard
PMID: 10597527.
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.
DeStefano, Anita
Baldwin, Clinton
Gavras, Haralambos
Gavras, Irene
Farrer, Lindsay
PMID: 9792870; PMCID: PMC1377553.
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.
DeStefano, Anita
Milunsky, Aubrey
Baldwin, Clinton
Cupples, L
Farrer, Lindsay
PMID: 9654197.
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.
DeStefano, Anita
Milunsky, Aubrey
Baldwin, Clinton
PMID: 9295078.
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.
DeStefano, Anita
Farrer, Lindsay
Myers, Richard
PMID: 9433611.
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.
DeStefano, Anita
Farrer, Lindsay
PMID: 8882886.
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.
DeStefano, Anita
Cupples, L
Farrer, Lindsay
PMID: 8659514; PMCID: PMC1915115.
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.
DeStefano, Anita
Milunsky, Aubrey
Baldwin, Clinton
Farrer, Lindsay
PMID: 8880147.
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.
DeStefano, Anita
Baldwin, Clinton
Farrer, Lindsay
PMID: 8651303; PMCID: PMC1915077.
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.
DeStefano, Anita
Farrer, Lindsay
PMID: 7550334.
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.
DeStefano, Anita
Farrer, Lindsay
PMID: 7611296; PMCID: PMC1801255.
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.

Bar chart showing 142 publications over 25 distinct years, with a maximum of 12 publications in 2014

Bar chart showing 142 publications over 25 distinct years, with a maximum of 12 publications in 2014

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

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