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2022
Hill EJ, Robak LA, Al-Ouran R, Deger J, Fong JC, Vandeventer PJerrod, Schulman E, Rao S, Saade H, Savitt JM, von Coelln R, Desai N, Doddapaneni H, Salvi S, Dugan-Perez S, Muzny DM, McGuire AL, Liu Z, Gibbs RA, Shaw C, Jankovic J, Shulman LM, Shulman JM. Genome Sequencing in the Parkinson Disease Clinic. Neurol Genet. 2022 ;8(4):e200002.
Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, C Y Mak A, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2022 ;141(1):127-146.
Lahti J, Tuominen S, Yang Q, Pergola G, Ahmad S, Amin N, Armstrong NJ, Beiser A, Bey K, Bis JC, Boerwinkle E, Bressler J, Campbell A, Campbell H, Chen Q, Corley J, Cox SR, Davies G, De Jager PL, Derks EM, Faul JD, Fitzpatrick AL, Fohner AE, Ford I, Fornage M, Gerring Z, Grabe HJ, Grodstein F, Gudnason V, Simonsick E, Holliday EG, Joshi PK, Kajantie E, Kaprio J, Karell P, Kleineidam L, Knol MJ, Kochan NA, Kwok JB, Leber M, Lam M, Lee T, Li S, Loukola A, Luck T, Marioni RE, Mather KA, Medland S, Mirza SS, Nalls MA, Nho K, O'Donnell A, Oldmeadow C, Painter J, Pattie A, Reppermund S, Risacher SL, Rose RJ, Sadashivaiah V, Scholz M, Satizabal CL, Schofield PW, Schraut KE, Scott RJ, Simino J, Smith AV, Smith JA, Stott DJ, Surakka I, Teumer A, Thalamuthu A, Trompet S, Turner ST, van der Lee SJ, Villringer A, Völker U, Wilson RS, Wittfeld K, Vuoksimaa E, Xia R, Yaffe K, Yu L, Zare H, Zhao W, Ames D, Attia J, Bennett DA, Brodaty H, Chasman DI, Goldman AL, Hayward C, M Ikram A, J Jukema W, Kardia SLR, Lencz T, Loeffler M, Mattay VS, Palotie A, Psaty BM, Ramirez A, Ridker PM, Riedel-Heller SG, Sachdev PS, Saykin AJ, Scherer M, Schofield PR, Sidney S, Starr JM, Trollor J, Ulrich W, Wagner M, Weir DR, Wilson JF, Wright MJ, Weinberger DR, Debette S, Eriksson JG, Mosley TH, Launer LJ, van Duijn CM, Deary IJ, Seshadri S, Räikkönen K. Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning. Mol Psychiatry. 2022 ;27(11):4419-4431.
Li Y, Cheng Y, Consolato F, Schiano G, Chong MR, Pietzner M, Nguyen NQuynh H, Scherer N, Biggs ML, Kleber ME, Haug S, Göçmen B, Pigeyre M, Sekula P, Steinbrenner I, Schlosser P, Joseph CB, Brody JA, Grams ME, Hayward C, Schultheiss UT, Krämer BK, Kronenberg F, Peters A, Seissler J, Steubl D, Then C, Wuttke M, Marz W, Eckardt K-U, Gieger C, Boerwinkle E, Psaty BM, Coresh J, Oefner PJ, Paré G, Langenberg C, Scherberich JE, Yu B, Akilesh S, Devuyst O, Rampoldi L, Köttgen A. Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases. JCI Insight. 2022 ;7(10).
Rogers J. Genomic resources for rhesus macaques (Macaca mulatta). Mamm Genome. 2022 ;33(1):91-99.
Chiou KL, Janiak MC, Schneider-Crease IA, Sen S, Ayele F, Chuma IS, Knauf S, Lemma A, Signore AV, D'Ippolito AM, Abebe B, Haile AAzanaw, Kebede F, Fashing PJ, Nguyen N, McCann C, Houck ML, Wall JD, Burrell AS, Bergey CM, Rogers J, Phillips-Conroy JE, Jolly CJ, Melin AD, Storz JF, Lu A, Beehner JC, Bergman TJ, Snyder-Mackler N. Genomic signatures of high-altitude adaptation and chromosomal polymorphism in geladas. Nat Ecol Evol. 2022 ;6(5):630-643.
Chen F, Chandrashekar DS, Scheurer ME, Varambally S, Creighton CJ. Global molecular alterations involving recurrence or progression of pediatric brain tumors. Neoplasia. 2022 ;24(1):22-33.
Ahmed KMokim, Veeramachaneni R, Deng D, Putluri N, Putluri V, Cardenas MF, Wheeler DA, Decker WK, Frederick AI, Kazi S, Sikora AG, Sandulache VC, Frederick MJ. Glutathione peroxidase 2 is a metabolic driver of the tumor immune microenvironment and immune checkpoint inhibitor response. J Immunother Cancer. 2022 ;10(8).
2021
Fuentes Lde Las, Sung YJu, Noordam R, Winkler T, Feitosa MF, Schwander K, Bentley AR, Brown MR, Guo X, Manning A, Chasman DI, Aschard H, Bartz TM, Bielak LF, Campbell A, Cheng C-Y, Dorajoo R, Hartwig FP, Horimoto ARVR, Li C, Li-Gao R, Liu Y, Marten J, Musani SK, Ntalla I, Rankinen T, Richard M, Sim X, Smith AV, Tajuddin SM, Tayo BO, Vojinovic D, Warren HR, Xuan D, Alver M, Boissel M, Chai J-F, Chen X, Christensen K, Divers J, Evangelou E, Gao C, Girotto G, Harris SE, He M, Hsu F-C, Kühnel B, Laguzzi F, Li X, Lyytikäinen L-P, Nolte IM, Poveda A, Rauramaa R, Riaz M, Rueedi R, Shu X-O, Snieder H, Sofer T, Takeuchi F, Verweij N, Ware EB, Weiss S, Yanek LR, Amin N, Arking DE, Arnett DK, Bergmann S, Boerwinkle E, Brody JA, Broeckel U, Brumat M, Burke G, Cabrera CP, Canouil M, Chee MLi, Chen Y-DIda, Cocca M, Connell J, H de Silva J, de Vries PS, Eiriksdottir G, Faul JD, Fisher V, Forrester T, Fox EF, Friedlander Y, Gao H, Gigante B, Giulianini F, Gu CCharles, Gu D, Harris TB, He J, Heikkinen S, Heng C-K, Hunt S, M Ikram A, Irvin MR, Kähönen M, Kavousi M, Khor CChuen, Kilpeläinen TO, Koh W-P, Komulainen P, Kraja AT, Krieger JE, Langefeld CD, Li Y, Liang J, Liewald DCM, Liu C-T, Liu J, Lohman KK, Mägi R, McKenzie CA, Meitinger T, Metspalu A, Milaneschi Y, Milani L, Mook-Kanamori DO, Nalls MA, Nelson CP, Norris JM, O'Connell J, Ogunniyi A, Padmanabhan S, Palmer ND, Pedersen NL, Perls T, Peters A, Petersmann A, Peyser PA, Polasek O, Porteous DJ, Raffel LJ, Rice TK, Rotter JI, Rudan I, Rueda-Ochoa O-L, Sabanayagam C, Salako BL, Schreiner PJ, Shikany JM, Sidney SS, Sims M, Sitlani CM, Smith JA, Starr JM, Strauch K, Swertz MA, Teumer A, Tham YChung, Uitterlinden AG, Vaidya D, M van der Ende Y, Waldenberger M, Wang L, Wang Y-X, Bin Wei W-, Weir DR, Wen W, Yao J, Yu B, Yu C, Yuan J-M, Zhao W, Zonderman AB, Becker DM, Bowden DW, Deary IJ, Dörr M, Esko T, Freedman BI, Froguel P, Gasparini P, Gieger C, Jonas JBruno, Kammerer CM, Kato N, Lakka TA, Leander K, Lehtimäki T, Magnusson PKE, Marques-Vidal P, Penninx BWJH, Samani NJ, van der Harst P, Wagenknecht LE, Wu T, Zheng W, Zhu X, Bouchard C, Cooper RS, Correa A, Evans MK, Gudnason V, Hayward C, Horta BL, Kelly TN, Kritchevsky SB, Levy D, Palmas WR, Pereira AC, Province MM, Psaty BM, Ridker PM, Rotimi CN, E Tai S, van Dam RM, van Duijn CM, Wong TYin, Rice K, W Gauderman J, Morrison AC, North KE, Kardia SLR, Caulfield MJ, Elliott P, Munroe PB, Franks PW, Rao DC, Fornage M. Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci. Mol Psychiatry. 2021 ;26(6):2111-2125.
Ligthart S, Hasbani NR, Ahmadizar F, van Herpt TTW, Leening MJG, Uitterlinden AG, Sijbrands EJG, Morrison AC, Boerwinkle E, Pankow JS, Selvin E, M Ikram A, Kavousi M, de Vries PS, Dehghan A. Genetic susceptibility, obesity and lifetime risk of type 2 diabetes: The ARIC study and Rotterdam Study. Diabet Med. 2021 ;38(10):e14639.
Murdock DR, Venner E, Muzny DM, Metcalf GA, Murugan M, Hadley TD, Chander V, de Vries PS, Jia X, Hussain A, Agha AM, Sabo A, Li S, Meng Q, Hu J, Tian X, Cohen M, Yi V, Kovar CL, Gingras M-C, Korchina V, Howard C, Riconda DL, Pereira S, Smith HS, Huda ZA, Buentello A, Marino PR, Leiber L, Balasubramanyam A, Amos CI, Civitello AB, Chelu MG, Maag R, McGuire AL, Boerwinkle E, Wehrens XHT, Ballantyne CM, Gibbs RA. Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications. Genet Med. 2021 ;23(12):2404-2414.
Schunk SJ, Kleber ME, Marz W, Pang S, Zewinger S, Triem S, Ege P, Reichert MC, Krawczyk M, Weber SN, Jaumann I, Schmit D, Sarakpi T, Wagenpfeil S, Kramann R, Boerwinkle E, Ballantyne CM, Grove ML, Tragante V, Pilbrow AP, A Richards M, Cameron VA, Doughty RN, Dube M-P, Tardif J-C, Feroz-Zada Y, Sun M, Liu C, Ko Y-A, Quyyumi AA, Hartiala JA, Tang WHWilson, Hazen SL, Allayee H, McDonough CW, Gong Y, Cooper-Dehoff RM, Johnson JA, Scholz M, Teren A, Burkhardt R, Martinsson A, J Smith G, Wallentin L, James SK, Eriksson N, White H, Held C, Waterworth D, Trompet S, J Jukema W, Ford I, Stott DJ, Sattar N, Cresci S, Spertus JA, Campbell H, Tierling S, Walter J, Ampofo E, Niemeyer BA, Lipp P, Schunkert H, Böhm M, Koenig W, Fliser D, Laufs U, Speer T. Genetically determined NLRP3 inflammasome activation associates with systemic inflammation and cardiovascular mortality. Eur Heart J. 2021 ;42(18):1742-1756.
Chiou KL, Bergey CM, Burrell AS, Disotell TR, Rogers J, Jolly CJ, Phillips-Conroy JE. Genome-wide ancestry and introgression in a Zambian baboon hybrid zone. Mol Ecol. 2021 ;30(8):1907-1920.
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.
Jones G, Trajanoska K, Santanasto AJ, Stringa N, Kuo C-L, Atkins JL, Lewis JR, Duong TV, Hong S, Biggs ML, Luan J'an, Sarnowski C, Lunetta KL, Tanaka T, Wojczynski MK, Cvejkus R, Nethander M, Ghasemi S, Yang J, M Zillikens C, Walter S, Sicinski K, Kague E, Ackert-Bicknell CL, Arking DE, B Windham G, Boerwinkle E, Grove ML, Graff M, Spira D, Demuth I, van der Velde N, de Groot LCPGM, Psaty BM, Odden MC, Fohner AE, Langenberg C, Wareham NJ, Bandinelli S, van Schoor NM, Huisman M, Tan Q, Zmuda J, Mellström D, Karlsson M, Bennett DA, Buchman AS, De Jager PL, Uitterlinden AG, Völker U, Kocher T, Teumer A, Rodriguéz-Mañas L, García FJ, Carnicero JA, Herd P, Bertram L, Ohlsson C, Murabito JM, Melzer D, Kuchel GA, Ferrucci L, Karasik D, Rivadeneira F, Kiel DP, Pilling LC. Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women. Nat Commun. 2021 ;12(1):654.
Ting MA, Reuther J, Chandramohan R, Voicu H, Gandhi I, Liu M, Cortes-Santiago N, Foster JH, Hicks J, Nuchtern J, Scollon S, Plon SE, Chintagumpala M, Rainusso N, Roy A, D Parsons W. Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood. J Pathol. 2021 ;255(1):52-61.
Fouks B, Brand P, Nguyen HN, Herman J, Camara F, Ence D, Hagen DE, Hoff KJ, Nachweide S, Romoth L, Walden KKO, Guigó R, Stanke M, Narzisi G, Yandell M, Robertson HM, Koeniger N, Chantawannakul P, Schatz MC, Worley KC, Robinson GE, Elsik CG, Rueppell O. The genomic basis of evolutionary differentiation among honey bees. Genome Res. 2021 ;31(7):1203-15.
Murugan M, Babb LJ, Taylor COverby, Rasmussen LV, Freimuth RR, Venner E, Yan F, Yi V, Granite SJ, Zouk H, Aronson SJ, Power K, Fedotov A, Crosslin DR, Fasel D, Jarvik GP, Hakonarson H, Bangash H, Kullo IJ, Connolly JJ, Nestor JG, Caraballo PJ, Wei WQ, Wiley K, Rehm HL, Gibbs RA. Genomic considerations for FHIR®; eMERGE implementation lessons. J Biomed Inform. 2021 ;118:103795.
Li H, Sisoudiya SD, Martin-Giacalone BA, Khayat MM, Dugan-Perez S, Marquez-Do DA, Scheurer ME, Muzny DM, Boerwinkle E, Gibbs RA, Chi Y-Y, Barkauskas DA, Lo T, Hall D, Stewart DR, Schiffman JD, Skapek SX, Hawkins DS, Plon SE, Sabo A, Lupo PJ. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 ;113(7):875-883.
Hansen AW, Arora P, Khayat MM, Smith LJ, Lewis AM, Rossetti LZ, Jayaseelan J, Cristian I, Haynes D, DiTroia S, Meeks N, Delgado MR, Rosenfeld JA, Pais L, White SM, Meng Q, Pehlivan D, Liu P, Gingras M-C, Wangler MF, Muzny DM, Lupski JR, Kaplan CD, Gibbs RA. Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv. 2021 ;2(1).
2020
Thomas GWC, Dohmen E, Hughes DST, Murali SC, Poelchau M, Glastad K, Anstead CA, Ayoub NA, Batterham P, Bellair M, Binford GJ, Chao H, Chen YH, Childers C, Dinh H, Doddapaneni H, Duan JJ, Dugan S, Esposito LA, Friedrich M, Garb J, Gasser RB, Goodisman MAD, Gundersen-Rindal DE, Han Y, Handler AM, Hatakeyama M, Hering L, Hunter WB, Ioannidis P, Jayaseelan JC, Kalra D, Khila A, Korhonen PK, Lee CEunmi, Lee SL, Li Y, Lindsey ARI, Mayer G, McGregor AP, McKenna DD, Misof B, Munidasa M, Munoz-Torres M, Muzny DM, Niehuis O, Osuji-Lacy N, Palli SR, Panfilio KA, Pechmann M, Perry T, Peters RS, Poynton HC, Prpic N-M, Qu J, Rotenberg D, Schal C, Schoville SD, Scully ED, Skinner E, Sloan DB, Stouthamer R, Strand MR, Szucsich NU, Wijeratne A, Young ND, Zattara EE, Benoit JB, Zdobnov EM, Pfrender ME, Hackett KJ, Werren JH, Worley KC, Gibbs RA, Chipman AD, Waterhouse RM, Bornberg-Bauer E, Hahn MW, Richards S. Gene content evolution in the arthropods. Genome Biol. 2020 ;21(1):15.
Lin M, Liu Z, Liu G, Zhao S, Li C, Chen W, Akdemir ZCoban, Lin J, Song X, Wang S, Xu Q, Zhao Y, Wang L, Zhang Y, Yan Z, Liu S, Liu J, Chen Y, Zuo Y, Yang X, Sun T, Yang X-Z, Niu Y, Li X, You W, Qiu B, Ding C, Liu P, Zhang S, Carvalho CMB, Posey JE, Qiu G, Lupski JR, Wu Z, Zhang J, Wu N. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med. 2020 ;8(1):e1023.
Chen S, Jain M, Jhangiani S, Akdemir ZC, Campeau PM, Klein RF, Nielson C, Dai H, Muzny DM, Boerwinkle E, Gibbs RA, Orwoll ES, Lupski JR, Posey JE, Lee B. Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). JBMR Plus. 2020 ;4(3):e10335.
Hahn J, Fu Y-P, Brown MR, Bis JC, de Vries PS, Feitosa MF, Yanek LR, Weiss S, Giulianini F, Smith AVernon, Guo X, Bartz TM, Becker DM, Becker LC, Boerwinkle E, Brody JA, Chen Y-DIda, Franco OH, Grove M, Harris TB, Hofman A, Hwang S-J, Kral BG, Launer LJ, Markus MRP, Rice KM, Rich SS, Ridker PM, Rivadeneira F, Rotter JI, Sotoodehnia N, Taylor KD, Uitterlinden AG, Völker U, Völzke H, Yao J, Chasman DI, Dörr M, Gudnason V, Mathias RA, Post W, Psaty BM, Dehghan A, O'Donnell CJ, Morrison AC. Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. PLoS One. 2020 ;15(11):e0230035.
Gulsuner S, Stein DJ, Susser ES, Sibeko G, Pretorius A, Walsh T, Majara L, Mndini MM, Mqulwana SG, Ntola OA, Casadei S, Ngqengelele LL, Korchina V, van der Merwe C, Malan M, Fader KM, Feng M, Willoughby E, Muzny DM, Baldinger A, Andrews HF, Gur RC, Gibbs RA, Zingela Z, Nagdee M, Ramesar RS, King M-C, McClellan JM. Genetics of schizophrenia in the South African Xhosa. Science. 2020 ;367(6477):569-573.