Selected Recent Publications:
- Bishop DT, Demenais F, Iles MM, Harland M, Taylor JC, Corda E, Randerson-Moor J, Aitken JF, Avril MF, Azizi E, Bakker B, Bianchi-Scarrà G, Bressac-de Paillerets B, Calista D, Cannon-Albright LA, Chin-A-Woeng T, Debniak T, Galore-Haskel G, Ghiorzo P, Gut I, Hansson J, Hocevar M, Höiom V, Hopper JL, Ingvar C, Kanetsky PA, Kefford RF, Landi MT, Lang J, Lubinski J, Mackie R, Malvehy J, Mann GJ, Martin NG, Montgomery GW, van Nieuwpoort FA, Novakovic S, Olsson H, Puig S, Weiss M, van Workum W, Zelenika D, Brown KM, Goldstein AM, Gillanders EM, Boland A, Galan P, Elder DE, Gruis NA, Hayward NK, Lathrop GM, Barrett JH, Bishop JA. Genome-wide association study identifies three loci associated with melanoma risk. Nature Genetics 2009; 41(8): 920-5.
- Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li Mingyao, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genetics 2009; 5(6): e1000536.
- Capasso M, Hou C, Asgharzadeh S, Attiyeh EF, Mosse YP, Diskin SJ, Cole K, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Glessner JT, Kim C, London, WB, Seeger RC, Li H, Rahman N, Rappaport E, Hakonarson H, Devoto M, Maris J. Common variations in the BARD1 tumor suppressor gene influence susceptibility to high-risk neuroblastoma. Nature Genetics 2009; 41(6): 718-723.
- Chen J, Zheng H, Wilson ML, Kraft P: Testing Hardy-Weinberg equilibrium using mother-child case-control samples. Genetic Epidemiology 2009; 33(6): 539-48.
- Chen J, Zheng H, Wilson ML: Likelihood ratio tests for maternal and fetal genetic effects on obstetric complications. Genetic Epidemiology, Feb. 2009.
- Diskin, SJ, Cuiping Hou, Joseph T. Glessner, Edward F. Attiyeh, Marci Laudenslager, Kristopher Bosse, Kristina Cole, Yael P. Mosse, Andrew Wood, Jill E. Lynch, Katlyn Pecor, Maura Diamond, Cynthia Winter, Kai Wang, Cecilia Kim, Elizabeth A. Geiger, Patrick W. McGrady, Alexandra I. F. Blakemore, Wendy B. London, Tamim H. Shaikh, Jonathan Bradfield, Struan F. A. Grant, Li H, Marcella Devoto, Eric R. Rappaport, Hakon Hakonarson, John M. Maris. Copy number variation at 1q21.1 associated with neuroblastoma. Nature 2009; 459: 987-991.
- Eeles RA, Kote-Jarai Z, Al Olama AA, Giles GG, Guy M, Severi G, Muir K, Hopper JL, Henderson BE, Haiman CA, Schleutker J, Hamdy FC, Neal DE, Donovan JL, Stanford JL, Ostrander EA, Ingles SA, John EM, Thibodeau SN, Schaid D, Park JY, Spurdle A, Clements J, Dickinson JL, Maier C, Vogel W, Dörk T, Rebbeck TR, Cooney KA, Cannon-Albright L, Chappuis PO, Hutter P, Zeegers M, Kaneva R, Zhang HW, Lu YJ, Foulkes WD, English DR, Leongamornlert DA, Tymrakiewicz M, Morrison J, Ardern-Jones AT, Hall AL, O'Brien LT, Wilkinson RA, Saunders EJ, Page EC, Sawyer EJ, Edwards SM, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As N, Woodhouse CJ, Thompson A, Christmas T, Ogden C, Cooper CS, Southey MC, Lophatananon A, Liu JF, Kolonel LN, Le Marchand L, Wahlfors T, Tammela TL, Auvinen A, Lewis SJ, Cox A, FitzGerald LM, Koopmeiners JS, Karyadi DM, Kwon EM, Stern MC, Corral R, Joshi AD, Shahabi A, McDonnell SK, Sellers TA, Pow-Sang J, Chambers S, Aitken J, Gardiner RA, Batra J, Kedda MA, Lose F, Polanowski A, Patterson B, Serth J, Meyer A, Luedeke M, Stefflova K, Ray AM, Lange EM, Farnham J, Khan H, Slavov C, Mitkova A, Cao G; UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology; UK ProtecT Study Collaborators; PRACTICAL Consortium, Easton DF. Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nature Genetics 2009; 41(10): 1116-21.
- Kanetsky PA, Mitra N, Vardhanabhuti S, Li M, Vaughn DJ, Letrero R, Ciosek SL, Doody DR, Smith LM, Weaver J, Albano A, Chen C, Starr JR, Rader DJ, Godwin AK, Reilly MP, Hakonarson H, Schwartz SM, Nathanson KL. Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nature Genetics 2009; 41(7): 811-5.
- Li M, Reilly MP, Rader DJ, Wang L-S. Correcting population stratification in genetic association studies using a phylogenetics approach. Bioinformatics, in press, 2009.
- Li M, Wang K, Grant SF, Hakonarson H, Li C. ATOM: a powerful gene-based association test by combining optimally weighted markers. Bioinformatics 2009; 25(4): 497-503.
- Li, C, Wei, Z and Li, H. Network-based Empirical Bayes Methods for Linear Models with Applications to Genomic Data. Journal of Biopharmaceutical Statistics, in press, 2009.
- Li, H, Wei Z and Maris J. A hidden Markov random filed model for genome-wide association studies. Biostatistics, in press, 2009.
- Luo S, Mukherjee B, Chen J, Chatterjee N: Shrinkage estimation for robust and efficient screening of single-SNP association from case-control genome-wide association studies. Genetic Epidemiology 2009; 33(8): 740-50.
- Myocardial Infarction Genetics Consortium, Kathiresan S, Voight BF, Purcell S, Musunuru K, Ardissino D, Mannucci PM, Anand S, Engert JC, Samani NJ, Schunkert H, Erdmann J, Reilly MP, Rader DJ, Morgan T, Spertus JA, Stoll M, Girelli D, McKeown PP, Patterson CC, Siscovick DS, O'Donnell CJ, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Melander O, Altshuler D, Ardissino D, Merlini PA, Berzuini C, Bernardinelli L, Peyvandi F, Tubaro M, Celli P, Ferrario M, Fetiveau R, Marziliano N, Casari G, Galli M, Ribichini F, Rossi M, Bernardi F, Zonzin P, Piazza A, Mannucci PM, Schwartz SM, Siscovick DS, Yee J, Friedlander Y, Elosua R, Marrugat J, Lucas G, Subirana I, Sala J, Ramos R, Kathiresan S, Meigs JB, Williams G, Nathan DM, MacRae CA, O'Donnell CJ, Salomaa V, Havulinna AS, Peltonen L, Melander O, Berglund G, Voight BF, Kathiresan S, Hirschhorn JN, Asselta R, Duga S, Spreafico M, Musunuru K, Daly MJ, Purcell S, Voight BF, Purcell S, Nemesh J, Korn JM, McCarroll SA, Schwartz SM, Yee J, Kathiresan S, Lucas G, Subirana I, Elosua R, Surti A, Guiducci C, Gianniny L, Mirel D, Parkin M, Burtt N, Gabriel SB, Samani NJ, Thompson JR, Braund PS, Wright BJ, Balmforth AJ, Ball SG, Hall AS; Wellcome Trust Case Control Consortium, Schunkert H, Erdmann J, Linsel-Nitschke P, Lieb W, Ziegler A, König I, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Schunkert H, Samani NJ, Erdmann J, Ouwehand W, Hengstenberg C, Deloukas P, Scholz M, Cambien F, Li M, Chen Z, Wilensky R, Matthai W, Qasim A, Hakonarson HH, Devaney J, Burnett MS, Pichard AD, Kent KM, Satler L, Lindsay JM, Waksman R, Epstein SE, Rader DJ, Scheffold T, Berger K, Stoll M, Huge A, Girelli D, Martinelli N, Olivieri O, Corrocher R, Morgan T, Spertus JA, McKeown P, Patterson CC, Schunkert H, Erdmann E, Linsel-Nitschke P, Lieb W, Ziegler A, König IR, Hengstenberg C, Fischer M, Stark K, Grosshennig A, Preuss M, Wichmann HE, Schreiber S, Hólm H, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Engert JC, Do R, Xie C, Anand S, Kathiresan S, Ardissino D, Mannucci PM, Siscovick D, O'Donnell CJ, Samani NJ, Melander O, Elosua R, Peltonen L, Salomaa V, Schwartz SM, Altshuler D. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nature Genetics 2009; 41(3): 334-41.
- Paulson T, Maley C, Li X, Li H, Sanchez C, Chao D, Odze R, Vaughan T, Blount P, Reid B. Chromosomal instability and copy number alterations in Barrett's esophagus and esophageal adenocarcinoma. Clinical Cancer Research 2009; 15: 3306-3314.
- Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. Journal of the National Cancer Institute 2009;101(2): 80-7.
- Rebbeck TR, Mitra N, Domchek SM, Wan F, Chuai S, Friebel TM, Panossian S, Spurdle A, Chenevix-Trench G; kConFab, Singer CF, Pfeiler G, Neuhausen SL, Lynch HT, Garber JE, Weitzel JN, Isaacs C, Couch F, Narod SA, Rubinstein WS, Tomlinson GE, Ganz PA, Olopade OI, Tung N, Blum JL, Greenberg R, Nathanson KL, Daly MB. Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers. Cancer Research 2009; 69(14): 5801-10, .
- Sleiman P, Marcin Imielinski, Jonathan P. Bradfield, Kiran Annaiah, Saffron A.G. Willis-Owen, Nicholas M. Rafaels, Sven Michel, Klaus Bnnelykke, Cecilia E. Kim, Edward C. Frackelton, Joseph T. Glessne, Cuiping Hou, James Flory, F. George Otieno, Erin Santa, Kelly Thomas, Ryan M. Smith,Wendy R. Glaberson, Maria Garris, Rosetta M. Chiavacci, Terri H Beaty, Ingo Ruczinski, Julian Allen, Jonathan M. Spergel, Robert Grundmeier, Rasika A. Mathias, Jason D. Christie, Erika von Mutius, William O.C. Cookson, Michael Kabesch, Miriam F. Moffatt, Michael M. Grunstein, H Li, Kathleen C. Barnes, Marcella Devoto, Mark Magnusson, Struan F.A. Grant, Hans Bisgaard and Hakon Hakonarson: A locus on 1q31 harboring /DENND1B/ is associated with asthma susceptibility in both Caucasian and African American children. New England Journal of Medicine, In Press, 2009.
- Soranzo N, Spector TD, Mangino M, Kühnel B, Rendon A, Teumer A, Willenborg C, Wright B, Chen L, Li M, Salo P, Voight BF, Burns P, Laskowski RA, Xue Y, Menzel S, Altshuler D, Bradley JR, Bumpstead S, Burnett MS, Devaney J, Döring A, Elosua R, Epstein SE, Erber W, Falchi M, Garner SF, Ghori MJ, Goodall AH, Gwilliam R, Hakonarson HH, Hall AS, Hammond N, Hengstenberg C, Illig T, König IR, Knouff CW, McPherson R, Melander O, Mooser V, Nauck M, Nieminen MS, O'Donnell CJ, Peltonen L, Potter SC, Prokisch H, Rader DJ, Rice CM, Roberts R, Salomaa V, Sambrook J, Schreiber S, Schunkert H, Schwartz SM, Serbanovic-Canic J, Sinisalo J, Siscovick DS, Stark K, Surakka I, Stephens J, Thompson JR, Völker U, Völzke H, Watkins NA, Wells GA, Wichmann HE, Van Heel DA, Tyler-Smith C, Thein SL, Kathiresan S, Perola M, Reilly MP, Stewart AF, Erdmann J, Samani NJ, Meisinger C, Greinacher A, Deloukas P, Ouwehand WH, Gieger C. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nature Genetics 2009; 41(11):1182-90.
- Xulvi-Brunet R, Li H. Co-expression Networks: Graph Properties and Topological Comparisons. Bioinformatics, In Press, 2009.
- Yu K, Wheeler W, Li Q, Bergen AW, Caporaso N, Chatterjee N, Chen J: A Partially Linear Tree-based Regression Model for Multivariate Outcomes. Biometrics May 2009.
- Zhao H, Rebbeck TR, Mitra N. A propensity score approach to correction for bias due to population stratification using genetic and non-genetic factors. Genetic Epidemiology 2009; 33(8):679-690.
- Jill S. Barnholtz-Sloan, Brian McEvoy, Mark D. Shriver, and Timothy R. Rebbeck, Ancestry Estimation and Correction for Population Stratification in Molecular Epidemiologic Association Studies. Cancer Epidemiol Biomarkers Prev 2008;17(3):471 – 7.
- H. Zhang & K. Sol-Church & H. Rydbeck & D. Stabley &
L. D. Spotila & M. Devoto, High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density. Osteoporos Int 2008
- Hashem B. El-Serag, Donna White, Nandita Mitra, Genetic Association Studies: From “Searching Under the Lamppost” to “Fishing in the Pond”. Gastroenterology 2008;134:662–664
- H Schelleman, Z Chen, C Kealey, AS Whitehead, J Christie, M Price, CM Brensinger,CW Newcomb, CF Thorn, FF Samaha and SE Kimmel Warfarin Response and Vitamin K Epoxide
Reductase Complex 1 in African Americans and
Caucasians
Nature 2007; Vol 81 (5)
- Noah D. Kauff, Susan M. Domchek, Tara M. Friebel, Mark E. Robson, Johanna Lee, Judy E. Garber, Claudine Isaacs, D. Gareth Evans, Henry Lynch, Rosalind A. Eeles, Susan L. Neuhausen, Mary B. Daly, Ellen Matloff, Joanne L. Blum, Paul Sabbatini, Richard R. Barakat, Clifford Hudis, Larry Norton, Kenneth Offit, and Timothy R. Rebbeck Risk-Reducing Salpingo-Oophorectomy for the Prevention of BRCA1- and BRCA2-Associated Breast and Gynecologic Cancer: A Multicenter, Prospective StudyJournal of Clinical Oncology 2008 March; Vol 26 (8)
- Mushlin R.A., Kershenbaum A, Gallagher S.T., Rebbeck T.R. A graph-theoretical approach for pattern discovery in epidemiological research. IBM Systems Journal. 2007 January; 46(1)
- Hakonarson H, Grant SFA, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Casalunovo T, Taback SP, Frackelton EC, Lawson ML, Robinson LJ, Skraban R, Chiavacci RM, Stanley CA, Kirsch SE, Monos DS, Devoto M, Qu HQ, Polychronakos C: A genome-wide association study identifies KIAA0350 as a novel type 1 diabetes gene. Nature 448:591-594, 2007.
- Lantieri F, Rydbeck H, Griseri P, Ceccherini I, Devoto M: Incorporating prior biological information in linkage studies increases power and limits multiple testing. BMC Proceedings 1 (Suppl. 1):S89, 2007
- Kimmel SE, Christie J, Kealey C, Chen Z, Price M, Thorn CF, Brensinger CM, Newcomb CW, Whitehead AS. Apolipoprotein E (APOE) Genotype and Warfarin Dosing among Caucasians and African Americans [In Press, The Pharmacogenomics Journal]. 2007 Feb 27
- Schelleman H, Chen Z, Kealey C, Whitehead AS, Christie J, Price M, Brensinger CM, Newcomb CW, Thorn CF, Samaha FF, Kimmel SE. Warfarin Response and Vitamin K Epoxide Reductase Complex 1 in African Americans and Caucasians. Clinical Pharmacology and Therapeutics. 2007;81:742-7
- Ahn J.,Ambrosone C.B.,Kanetsky P.A.,Tian C.,Lehman T.A.,
Kropp S.,Helmbold I.,von Fournier D.,Haase W.,Sautter-Bihl M.L.,Wenz F.,Chang-Claude J. Polymorphisms in Genes Related to Oxidative Stress (CAT,MnSOD,
MPO, and eNOS) and Acute Toxicities from Radiation Therapy following Lumpectomy for Breast Cancer
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- Rebbeck T.R. , Troxel A.B. , Wang Y , Walker A.H ,
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- Li M, Atmaca-Sonmez P,Othman M,Branham K,Khanna R,Wade M, Li Y,Liang L,Zarepasra S,Swaroop A,Abecasis G. CFH haplotypes without Y402H coding variant show strong association with the susceptibility to age-related macular degeneration .
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- Landi M.T.,Bauer J.,Pfeiffer R.M.,Elder D.,Hulley B.,
Minghetti P.,Calista D.,Kanetsky P.A.,Pinkel D.,Bastian B.C. MC1R Germline Variants Confer Risk for BRAF-Mutant Melanoma
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