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A
Abel HJ, Larson DE, Regier AA, Chiang C, Das I, Kanchi KL, Layer RM, Neale BM, Salerno WJ, Reeves C, Buyske S, Matise TC, Muzny DM, Zody MC, Lander ES, Dutcher SK, Stitziel NO, Hall IM. Mapping and characterization of structural variation in 17,795 human genomes. Nature. 2020 ;583(7814):83-89.
Aganezov S, Goodwin S, Sherman RM, Sedlazeck FJ, Arun G, Bhatia S, Lee I, Kirsche M, Wappel R, Kramer M, Kostroff K, Spector DL, Timp W, W McCombie R, Schatz MC. Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. Genome Res. 2020 ;30(9):1258-1273.
Ahluwalia TS, Prins BP, Abdollahi M, Armstrong NJ, Aslibekyan S, Bain L, Jefferis B, Baumert J, Beekman M, Ben-Shlomo Y, Bis JC, Mitchell BD, de Geus E, Delgado GE, Marek D, Eriksson J, Kajantie E, Kanoni S, Kemp JP, Lu C, Marioni RE, McLachlan S, Milaneschi Y, Nolte IM, Petrelis AM, Porcu E, Sabater-Lleal M, Naderi E, Seppälä I, Shah T, Singhal G, Standl M, Teumer A, Thalamuthu A, Thiering E, Trompet S, Ballantyne CM, Benjamin EJ, Casas JP, Toben C, Dedoussis G, Deelen J, Durda P, Engmann J, Feitosa MF, Grallert H, Hammarstedt A, Harris SE, Homuth G, Hottenga J-J, Jalkanen S, Jamshidi Y, Jawahar MC, Jess T, Kivimaki M, Kleber ME, Lahti J, Liu Y, Marques-Vidal P, Mellström D, Mooijaart SP, Müller-Nurasyid M, Penninx B, Revez JA, Rossing P, Räikkönen K, Sattar N, Scharnagl H, Sennblad B, Silveira A, St Pourcain B, Timpson NJ, Trollor J, van Dongen J, van Heemst D, Visvikis-Siest S, Vollenweider P, Völker U, Waldenberger M, Willemsen G, Zabaneh D, Morris RW, Arnett DK, Baune BT, Boomsma DI, Chang Y-PC, Deary IJ, Deloukas P, Eriksson JG, Evans DM, Ferreira MA, Gaunt T, Gudnason V, Hamsten A, Heinrich J, Hingorani A, Humphries SE, J Jukema W, Koenig W, Kumari M, Kutalik Z, Lawlor DA, Lehtimäki T, Marz W, Mather KA, Naitza S, Nauck M, Ohlsson C, Price JF, Raitakari O, Rice K, Sachdev PS, Slagboom E, Sørensen TIA, Spector T, Stacey D, Stathopoulou MG, Tanaka T, S Wannamethee G, Whincup P, Rotter JI, Dehghan A, Boerwinkle E, Psaty BM, Snieder H, Alizadeh BZ. Genome-wide association study of circulating interleukin 6 levels identifies novel loci. Hum Mol Genet. 2021 ;30(5):393-409.
B
Bailey MH, Meyerson WU, Dursi LJonathan, Wang L-B, Dong G, Liang W-W, Weerasinghe A, Li S, Li Y, Kelso S, Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nat Commun. 2020 ;11(1):4748.
Barbalic M, Dupuis J, Dehghan A, Bis JC, Hoogeveen RC, Schnabel RB, Nambi V, Bretler M, Smith NL, Peters A, Lu C, Tracy RP, Aleksic N, Heeriga J, Keaney JF, Rice K, Lip GYH, Vasan RS, Glazer NL, Larson MG, Uitterlinden AG, Yamamoto J, Durda P, Haritunians T, Psaty BM, Boerwinkle E, Hofman A, Koenig W, Jenny NS, Witteman JC, Ballantyne C, Benjamin EJ. Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. Hum Mol Genet. 2010 ;19(9):1863-72.
Barkley RAnn, Brown AC, Hanis CL, Kardia SL, Turner ST, Boerwinkle E. Lack of genetic linkage evidence for a trans-acting factor having a large effect on plasma lipoprotein[a] levels in African Americans. J Lipid Res. 2003 ;44(7):1301-5.
Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, Chang K, Laurie C, Burugula BBharathi, Gibson CJ, Lin AE, Taub MA, Aguet F, Ardlie K, Mitchell BD, Barnes KC, Moscati A, Fornage M, Redline S, Psaty BM, Silverman EK, Weiss ST, Palmer ND, Vasan RS, Burchard EG, Kardia SLR, He J, Kaplan RC, Smith NL, Arnett DK, Schwartz DA, Correa A, de Andrade M, Guo X, Konkle BA, Custer B, Peralta JM, Gui H, Meyers DA, McGarvey ST, Der Chen IYii-, M Shoemaker B, Peyser PA, Broome JG, Gogarten SM, Wang FFei, Wong Q, Montasser ME, Daya M, Kenny EE, North KE, Launer LJ, Cade BE, Bis JC, Cho MH, Lasky-Su J, Bowden DW, L Cupples A, C Y Mak A, Becker LC, Smith JA, Kelly TN, Aslibekyan S, Heckbert SR, Tiwari HK, Yang IV, Heit JA, Lubitz SA, Johnsen JM, Curran JE, Wenzel SE, Weeks DE, Rao DC, Darbar D, Moon J-Y, Tracy RP, Buth EJ, Rafaels N, Loos RJF, Durda P, Liu Y, Hou L, Lee J, Kachroo P, Freedman BI, Levy D, Bielak LF, Hixson JE, Floyd JS, Whitsel EA, Ellinor PT, Irvin MR, Fingerlin TE, Raffield LM, Armasu SM, Wheeler MM, Sabino EC, Blangero J, L Williams K, Levy BD, Sheu WHuey-Herng, Roden DM, Boerwinkle E, Manson JAE, Mathias RA, Desai P, Taylor KD, Johnson AD, Auer PL, Kooperberg C, Laurie CC, Blackwell TW, Smith AV, Zhao H, Lange E, Lange L, Rich SS, Rotter JI, Wilson JG, Scheet P, Kitzman JO, Lander ES, Engreitz JM, Ebert BL, Reiner AP, Jaiswal S, Abecasis G, Sankaran VG, Kathiresan S, Natarajan P. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
Billingsley KJ, Ding J, Jerez PAlvarez, Illarionova A, Levine K, Grenn FP, Makarious MB, Moore A, Vitale D, Reed X, Hernandez D, Torkamani A, Ryten M, Hardy J, Chia R, Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Quinn JP, Bubb VJ, Collins RL, Zhao X, Walker M, Pierce-Hoffman E, Brand H, Talkowski ME, Casey B, Cookson MR, Markham A, Nalls MA, Mahmoud M, Sedlazeck FJ, Blauwendraat C, J Gibbs R, Singleton AB. Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 ;93(5):1012-1022.
Bis JC, DeStefano A, Liu X, Brody JA, Choi SHoan, Verhaaren BFJ, Debette S, M Ikram A, 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.
Bressler J, Franceschini N, Demerath EW, Mosley TH, Folsom AR, Boerwinkle E. Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study. BMC Med Genet. 2015 ;16:52.
Bressler J, Fornage M, Hanis CL, Kao WHong Linda, Lewis CE, McPherson R, Dent R, Mosley TH, Pennacchio LA, Boerwinkle E. The INSIG2 rs7566605 genetic variant does not play a major role in obesity in a sample of 24,722 individuals from four cohorts. BMC Med Genet. 2009 ;10:56.
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.
Bressler J, Fornage M, Demerath EW, Knopman DS, Monda KL, North KE, Penman A, Mosley TH, Boerwinkle E. Fat mass and obesity gene and cognitive decline: the Atherosclerosis Risk in Communities Study. Neurology. 2013 ;80(1):92-9.
Bressler J, Folsom AR, Couper DJ, Volcik KA, Boerwinkle E. Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. Am J Epidemiol. 2010 ;171(1):14-23.
Bressler J, Mosley TH, Penman A, Gottesman RF, Windham BGwen, Knopman DS, Wruck LM, Boerwinkle E. Genetic variants associated with risk of Alzheimer's disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study. Am J Med Genet B Neuropsychiatr Genet. 2017 ;174(3):269-282.
Bressler J, Kao WHLinda, Pankow JS, Boerwinkle E. Risk of type 2 diabetes and obesity is differentially associated with variation in FTO in whites and African-Americans in the ARIC study. PLoS One. 2010 ;5(5):e10521.
Bressler J, Shimmin LC, Boerwinkle E, Hixson JE. Global DNA methylation and risk of subclinical atherosclerosis in young adults: the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) study. Atherosclerosis. 2011 ;219(2):958-62.
Brody JA, Morrison AC, Bis JC, O'Connell JR, Brown MR, Huffman JE, Ames DC, Carroll A, Conomos MP, Gabriel S, Gibbs RA, Gogarten SM, Gupta N, Jaquish CE, Johnson AD, Lewis JP, Liu X, Manning AK, Papanicolaou GJ, Pitsillides AN, Rice KM, Salerno W, Sitlani CM, Smith NL, Heckbert SR, Laurie CC, Mitchell BD, Vasan RS, Rich SS, Rotter JI, Wilson JG, Boerwinkle E, Psaty BM, L Cupples A. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563.
Byrd DA, Sinha R, Hoffman KL, Chen J, Hua X, Shi J, Chia N, Petrosino J, Vogtmann E. Comparison of Methods To Collect Fecal Samples for Microbiome Studies Using Whole-Genome Shotgun Metagenomic Sequencing. mSphere. 2020 ;5(1).
C
Cade BE, Lee J, Sofer T, Wang H, Zhang M, Chen H, Gharib SA, Gottlieb DJ, Guo X, Lane JM, Liang J, Lin X, Mei H, Patel SR, Purcell SM, Saxena R, Shah NA, Evans DS, Hanis CL, Hillman DR, Mukherjee S, Palmer LJ, Stone KL, Tranah GJ, Abecasis GR, Boerwinkle E, Correa A, L Cupples A, Kaplan RC, Nickerson DA, North KE, Psaty BM, Rotter JI, Rich SS, Tracy RP, Vasan RS, Wilson JG, Zhu X, Redline S. Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program. Genome Med. 2021 ;13(1):136.
Calame DG, Herman I, Maroofian R, Marshall AE, Donis KCarvalho, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, V Sutton R, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TStefan, Skidmore DL, Osmond M, Silva TOliveira, Murphy D, Karimiani EGhayoor, Jamshidi Y, Jaddoa AGhanim, Tajsharghi H, Jin SChih, Abbaszadegan MReza, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MMehdi, Al-Sannaa NAbbas, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Saute JAMorales, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 ;92(2):304-321.
Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Carbonare MDalle, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JSobreira, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, Sobreira NLygia de M, Su HC, Guerrerio AL. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 ;140(9):1299-1312.
Chandrashekar DS, Bashel B, Balasubramanya SAkshaya Ho, Creighton CJ, Ponce-Rodriguez I, Chakravarthi BVSK, Varambally S. UALCAN: A Portal for Facilitating Tumor Subgroup Gene Expression and Survival Analyses. Neoplasia. 2017 ;19(8):649-658.
Chen D, Ge J, Wang L, Gao Q, Ma P, Li N, Li D-Q, Wang Z. A simple and evolutional approach proven to recanalise the nasolacrimal duct obstruction. Br J Ophthalmol. 2009 ;93(11):1438-43.
Chen H, Huffman JE, Brody JA, Wang C, Lee S, Li Z, Gogarten SM, Sofer T, Bielak LF, Bis JC, Blangero J, Bowler RP, Cade BE, Cho MH, Correa A, Curran JE, de Vries PS, Glahn DC, Guo X, Johnson AD, Kardia S, Kooperberg C, Lewis JP, Liu X, Mathias RA, Mitchell BD, O'Connell JR, Peyser PA, Post WS, Reiner AP, Rich SS, Rotter JI, Silverman EK, Smith JA, Vasan RS, Wilson JG, Yanek LR, Redline S, Smith NL, Boerwinkle E, Borecki IB, L Cupples A, Laurie CC, Morrison AC, Rice KM, Lin X. Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet. 2019 ;104(2):260-274.