Publications

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2020
Gunning AC, Strucinska K, Oreja MMuñoz, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Pelayo UFernandez, Jones AWE, Taylor RW, Misra VK, Yoon WHee, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 ;106(2):272-279.
2022
Matynia A, Wang J, Kim S, Li Y, Dimashkie A, Jiang Z, Hu J, Strom SP, Radu RA, Chen R, Gorin MB. Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients. Transl Vis Sci Technol. 2022 ;11(3):33.
2014
Zernant J, Collison FT, Lee W, Fishman GA, Nõupuu K, Yuan B, Cai C, Lupski JR, Yannuzzi LA, Tsang SH, Allikmets R. Genetic and clinical analysis of ABCA4-associated disease in African American patients. Hum Mutat. 2014 ;35(10):1187-94.
Zernant J, Xie YAngela, Ayuso C, Riveiro-Álvarez R, López-Martínez M-Á, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Analysis of the ABCA4 genomic locus in Stargardt disease. Hum Mol Genet. 2014 ;23(25):6797-806.
2016
Lee W, Xie Y, Zernant J, Yuan B, Bearelly S, Tsang SH, Lupski JR, Allikmets R. Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes. Hum Genet. 2016 ;135(1):9-19.
2004
Seshadri R, Myers GSA, Tettelin H, Eisen JA, Heidelberg JF, Dodson RJ, Davidsen TM, DeBoy RT, Fouts DE, Haft DH, Selengut J, Ren Q, Brinkac LM, Madupu R, Kolonay J, Durkin SA, Daugherty SC, Shetty J, Shvartsbeyn A, Gebregeorgis E, Geer K, Tsegaye G, Malek J, Ayodeji B, Shatsman S, McLeod MP, Smajs D, Howell JK, Pal S, Amin A, Vashisth P, McNeill TZ, Xiang Q, Sodergren E, Baca E, Weinstock GM, Norris SJ, Fraser CM, Paulsen IT. Comparison of the genome of the oral pathogen Treponema denticola with other spirochete genomes. Proc Natl Acad Sci U S A. 2004 ;101(15):5646-51.
2005
Eichinger L, Pachebat JA, Glöckner G, Rajandream M-A, Sucgang R, Berriman M, Song J, Olsen R, Szafranski K, Xu Q, Tunggal B, Kummerfeld S, Madera M, Konfortov BA, Rivero F, Bankier AT, Lehmann R, Hamlin N, Davies R, Gaudet P, Fey P, Pilcher K, Chen G, Saunders D, Sodergren E, Davis P, Kerhornou A, Nie X, Hall N, Anjard C, Hemphill L, Bason N, Farbrother P, Desany B, Just E, Morio T, Rost R, Churcher C, Cooper J, Haydock S, van Driessche N, Cronin A, Goodhead I, Muzny D, Mourier T, Pain A, Lu M, Harper D, Lindsay R, Hauser H, James K, Quiles M, M Babu M, Saito T, Buchrieser C, Wardroper A, Felder M, Thangavelu M, Johnson D, Knights A, Loulseged H, Mungall K, Oliver K, Price C, Quail MA, Urushihara H, Hernandez J, Rabbinowitsch E, Steffen D, Sanders M, Ma J, Kohara Y, Sharp S, Simmonds M, Spiegler S, Tivey A, Sugano S, White B, Walker D, Woodward J, Winckler T, Tanaka Y, Shaulsky G, Schleicher M, Weinstock G, Rosenthal A, Cox EC, Chisholm RL, Gibbs R, Loomis WF, Platzer M, Kay RR, Williams J, Dear PH, Noegel AA, Barrell B, Kuspa A. The genome of the social amoeba Dictyostelium discoideum. Nature. 2005 ;435(7038):43-57.
2006
Klos KLE, Sing CF, Boerwinkle E, Hamon SC, Rea TJ, Clark A, Fornage M, Hixson JE. Consistent effects of genes involved in reverse cholesterol transport on plasma lipid and apolipoprotein levels in CARDIA participants. Arterioscler Thromb Vasc Biol. 2006 ;26(8):1828-36.
2016
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim M-S, Kim KHo, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 ;7:10713.
2015
Guo F, Ding Y, Caberoy N, Alvarado G, Wang F, Chen R, Li W. ABCF1 extrinsically regulates retinal pigment epithelial cell phagocytosis. Mol Biol Cell. 2015 ;26(12):2311-20.
Zaneveld J, Siddiqui S, Li H, Wang X, Wang H, Wang K, Li H, Ren H, Lopez I, Dorfman A, Khan A, Wang F, Salvo J, Gelowani V, Li Y, Sui R, Koenekoop R, Chen R. Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions. Genet Med. 2015 ;17(4):262-70.
2011
Selever J, Gu G, Lewis MT, Beyer A, Herynk MH, Covington KR, Tsimelzon A, Dontu G, Provost P, Di Pietro A, Boumendjel A, Albain K, Miele L, Weiss H, Barone I, Andò S, Fuqua SAW. Dicer-mediated upregulation of BCRP confers tamoxifen resistance in human breast cancer cells. Clin Cancer Res. 2011 ;17(20):6510-21.
Selever J, Gu G, Lewis MT, Beyer A, Herynk MH, Covington KR, Tsimelzon A, Dontu G, Provost P, Di Pietro A, Boumendjel A, Albain K, Miele L, Weiss H, Barone I, Andò S, Fuqua SAW. Dicer-mediated upregulation of BCRP confers tamoxifen resistance in human breast cancer cells. Clin Cancer Res. 2011 ;17(20):6510-21.
2016
Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim M-S, Kim KHo, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 ;7:10713.
2006
Klos KLE, Sing CF, Boerwinkle E, Hamon SC, Rea TJ, Clark A, Fornage M, Hixson JE. Consistent effects of genes involved in reverse cholesterol transport on plasma lipid and apolipoprotein levels in CARDIA participants. Arterioscler Thromb Vasc Biol. 2006 ;26(8):1828-36.
2023
Zhao N, Teles F, Lu J, Koestler DC, Beck J, Boerwinkle E, Bressler J, Kelsey KT, Platz EA, Michaud DS. Epigenome-wide association study using peripheral blood leukocytes identifies genomic regions associated with periodontal disease and edentulism in the Atherosclerosis Risk in Communities study. J Clin Periodontol. 2023 ;50(9):1140-1153.
2020
Bressler J, Marioni RE, Walker RM, Xia R, Gottesman RF, B Windham G, Grove ML, Guan W, Pankow JS, Evans KL, McIntosh AM, Deary IJ, Mosley TH, Boerwinkle E, Fornage M. Epigenetic Age Acceleration and Cognitive Function in African American Adults in Midlife: The Atherosclerosis Risk in Communities Study. J Gerontol A Biol Sci Med Sci. 2020 ;75(3):473-480.
2019
Tin A, Yu B, Ma J, Masushita K, Daya N, Hoogeveen RC, Ballantyne CM, Couper D, Rebholz CM, Grams ME, Alonso A, Mosley T, Heiss G, Ganz P, Selvin E, Boerwinkle E, Coresh J. Reproducibility and Variability of Protein Analytes Measured Using a Multiplexed Modified Aptamer Assay. J Appl Lab Med. 2019 ;4(1):30-39.
2021
Feofanova EV, Lim E, Chen H, Lee MJ, Liu C-T, L Cupples A, Boerwinkle E. Exome sequence association study of levels and longitudinal change of cardiovascular risk factor phenotypes in European Americans and African Americans from the Atherosclerosis Risk in Communities Study. Genet Epidemiol. 2021 ;45(6):651-663.
2017
Howson JMM, Zhao W, Barnes DR, Ho W-K, Young R, Paul DS, Waite LL, Freitag DF, Fauman EB, Salfati EL, Sun BB, Eicher JD, Johnson AD, Sheu WHH, Nielsen SF, Lin W-Y, Surendran P, Mälarstig A, Wilk JB, Tybjærg-Hansen A, Rasmussen KL, Kamstrup PR, Deloukas P, Erdmann J, Kathiresan S, Samani NJ, Schunkert H, Watkins H, Do R, Rader DJ, Johnson JA, Hazen SL, Quyyumi AA, Spertus JA, Pepine CJ, Franceschini N, Justice A, Reiner AP, Buyske S, Hindorff LA, Carty CL, North KE, Kooperberg C, Boerwinkle E, Young K, Graff M, Peters U, Absher D, Hsiung CA, Lee W-J, Taylor KD, Chen Y-H, Lee I-T, Guo X, Chung R-H, Hung Y-J, Rotter JI, Juang J-MJ, Quertermous T, Wang T-D, Rasheed A, Frossard P, Alam DS, Majumder AAl Shafi, Di Angelantonio E, Chowdhury, iv R, Chen Y-DIda, Nordestgaard BG, Assimes TL, Danesh J, Butterworth AS, Saleheen D. Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms. Nat Genet. 2017 ;49(7):1113-1119.
Stitziel NO, Khera AV, Wang X, Bierhals AJ, A Vourakis C, Sperry AE, Natarajan P, Klarin D, Emdin CA, Zekavat SM, Nomura A, Erdmann J, Schunkert H, Samani NJ, Kraus WE, Shah SH, Yu B, Boerwinkle E, Rader DJ, Gupta N, Frossard PM, Rasheed A, Danesh J, Lander ES, Gabriel S, Saleheen D, Musunuru K, Kathiresan S. ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol. 2017 ;69(16):2054-2063.
2019
Wang Z, Zhu C, Nambi V, Morrison AC, Folsom AR, Ballantyne CM, Boerwinkle E, Yu B. Metabolomic Pattern Predicts Incident Coronary Heart Disease. Arterioscler Thromb Vasc Biol. 2019 ;39(7):1475-1482.
Loomis SJ, Köttgen A, Li M, Tin A, Coresh J, Boerwinkle E, Gibbs RA, Muzny DM, Pankow J, Selvin E, Duggal P. Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study. Sci Rep. 2019 ;9(1):5941.
2017
Bressler J, Yu B, Mosley TH, Knopman DS, Gottesman RF, Alonso A, Sharrett AR, Wruck LM, Boerwinkle E. Metabolomics and cognition in African American adults in midlife: the atherosclerosis risk in communities study. Transl Psychiatry. 2017 ;7(7):e1173.
de Vries PS, Yu B, Feofanova EV, Metcalf GA, Brown MR, Zeighami AL, Liu X, Muzny DM, Gibbs RA, Boerwinkle E, Morrison AC. Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. Hum Mol Genet. 2017 ;26(17):3442-3450.