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Author Title [ Type(Desc)] Year
Journal Article
Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, et al. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. JAMA Neurol. 2015 ;72(7):781-8.
Yang T, Jackson VE, Smith AV, Chen H, Bartz TM, Sitlani CM, Psaty BM, Gharib SA, O'Connor GT, Dupuis J, et al. {Rare and low-frequency exonic variants and gene-by-smoking interactions in pulmonary function. Sci Rep. 2021 ;11:19365.
Huffman JE, de Vries PS, Morrison AC, Sabater-Lleal M, Kacprowski T, Auer PL, Brody JA, Chasman DI, Chen M-H, Guo X, et al. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015 ;126(11):e19-29.
Choi SH, Jurgens SJ, Haggerty CM, Hall AW, Halford JL, Morrill VN, Weng LC, Lagerman B, Mirshahi T, Pettinger M, et al. {Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis. Circ Genom Precis Med. 2021 ;14:e003300.
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MSunitha, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, et al. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 ;109(1):81-96.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nat Genet. 2017 ;49(9):1373-1384.
Mousas A, Ntritsos G, Chen M-H, Song C, Huffman JE, Tzoulaki I, Elliott P, Psaty BM, Auer PL, Johnson AD, et al. Rare coding variants pinpoint genes that control human hematological traits. PLoS Genet. 2017 ;13(8):e1006925.
Yu B, Pulit SL, Hwang S-J, Brody JA, Amin N, Auer PL, Bis JC, Boerwinkle E, Burke GL, Chakravarti A, et al. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 ;9(1):64-70.
Jakobsdottir J, van der Lee SJ, Bis JC, Chouraki V, Li-Kroeger D, Yamamoto S, Grove ML, Naj A, Vronskaya M, Salazar JL, et al. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 ;12(10):e1006327.
Jang S-K, Evans L, Fialkowski A, Arnett DK, Ashley-Koch AE, Barnes KC, Becker DM, Bis JC, Blangero J, Bleecker ER, et al. Rare genetic variants explain missing heritability in smoking. Nat Hum Behav. 2022 .
Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, et al. Rare loss of function variants in candidate genes and risk of colorectal cancer. Hum Genet. 2018 .
Olfson E, Saccone NL, Johnson EO, Chen L-S, Culverhouse R, Doheny K, Foltz SM, Fox L, Gogarten SM, Hartz S, et al. Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans. Mol Psychiatry. 2016 ;21(5):601-7.
Zhang X, Zhu C, Beecham G, Vardarajan BN, Ma Y, Lancour D, Farrell JJ, Chung J, Mayeux R, Haines JL, et al. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease. Alzheimers Dement. 2019 .
Wang Y, Selvaraj MSunitha, Li X, Li Z, Holdcraft JA, Arnett DK, Bis JC, Blangero J, Boerwinkle E, Bowden DW, et al. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. medRxiv. 2023 .
Zhan L, Li J, Jew B, Sul JHoon. Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences. PLoS Genet. 2021 ;17(9):e1009772.
Shlipak MG, Katz R, Kestenbaum B, Fried LF, Newman AB, Siscovick DS, Stevens L, Sarnak MJ. Rate of kidney function decline in older adults: a comparison using creatinine and cystatin C. Am J Nephrol. 2009 ;30(3):171-8.
Kapur VK, Rapoport DM, Sanders MH, Enright P, Hill J, Iber C, Romaniuk J. Rates of sensor loss in unattended home polysomnography: the influence of age, gender, obesity, and sleep-disordered breathing. Sleep. 2000 ;23(5):682-8.
Bůzková P, Barzilay JI, Fink HA, Robbins JA, Cauley JA, Fitzpatrick AL. Ratio of urine albumin to creatinine attenuates the association of dementia with hip fracture risk. J Clin Endocrinol Metab. 2014 ;99(11):4116-23.
Tell GS, Fried LP, Hermanson B, Manolio TA, Newman AB, Borhani NO. Recruitment of adults 65 years and older as participants in the Cardiovascular Health Study. Ann Epidemiol. 1993 ;3(4):358-66.
Lind BK, Goodwin JL, Hill JG, Ali T, Redline S, Quan SF. Recruitment of healthy adults into a study of overnight sleep monitoring in the home: experience of the Sleep Heart Health Study. Sleep Breath. 2003 ;7(1):13-24.
Enright PL, Kronmal RA, Smith VE, Gardin JM, Schenker MB, Manolio TA. Reduced vital capacity in elderly persons with hypertension, coronary heart disease, or left ventricular hypertrophy. The Cardiovascular Health Study. Chest. 1995 ;107(1):28-35.
Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, N Rayner W, et al. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018 ;50(4):559-571.
Louis ED, Fried LP, Fitzpatrick AL, Longstreth WT, Newman AB. Regional and racial differences in the prevalence of physician-diagnosed essential tremor in the United States. Mov Disord. 2003 ;18(9):1035-40.
Rosano C, Aizenstein HJ, Studenski S, Newman AB. A regions-of-interest volumetric analysis of mobility limitations in community-dwelling older adults. J Gerontol A Biol Sci Med Sci. 2007 ;62(9):1048-55.
Wood AM, White I, Thompson SG, Lewington S, Danesh J. Regression dilution methods for meta-analysis: assessing long-term variability in plasma fibrinogen among 27,247 adults in 15 prospective studies. Int J Epidemiol. 2006 ;35(6):1570-8.

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