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2020
A Khan B, Gadot R, Shetty A, Bayley JC, Hadley CC, Cardenas MF, Jalali A, Harmanci AS, Harmanci AO, Wheeler DA, Klisch TJ, Patel AJ. Identification of novel fusion transcripts in meningioma. J Neurooncol. 2020 ;149(2):219-230.
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.
Devlin DJ, Zaneveld SAgrawal, Nozawa K, Han X, Moye AR, Liang Q, Harnish JMichael, Matzuk MM, Chen R. Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects†. Biol Reprod. 2020 ;102(6):1234-1247.
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.
Cherry TJ, Yang MG, Harmin DA, Tao P, Timms AE, Bauwens M, Allikmets R, Jones EM, Chen R, De Baere E, Greenberg ME. Mapping the -regulatory architecture of the human retina reveals noncoding genetic variation in disease. Proc Natl Acad Sci U S A. 2020 ;117(16):9001-9012.
Maners J, Gill D, Pankratz N, Laffan MA, Wolberg AS, de Maat MPM, Ligthart S, Tang W, Ward-Caviness CK, Fornage M, Debette S, Dichgans M, McKnight B, Boerwinkle E, Smith NL, Morrison AC, Dehghan A, de Vries PS. A Mendelian randomization of γ' and total fibrinogen levels in relation to venous thromboembolism and ischemic stroke. Blood. 2020 ;136(26):3062-3069.
Liu S, Tian M, He F, Li J, Xie H, Liu W, Zhang Y, Zhang R, Yi M, Che F, Ma X, Zheng Y, Deng H, Wang G, Chen L, Sun X, Xu Y, Wang J, Zang Y, Han M, Wang X, Guan H, Ge Y, Wu C, Wang H, Liang H, Li H, Ran N, Yang Z, Huang H, Wei Y, Zheng X, Sun X, Feng X, Zheng L, Zhu T, Luo W, Chen Q, Yan Y, Huang Z, Jing Z, Guo Y, Zhang X, Schaaf CP, Xing J, Wang C, Yu F, Guan J-S. Mutations in ASH1L confer susceptibility to Tourette syndrome. Mol Psychiatry. 2020 ;25(2):476-490.
Martin PB, Kigoshi-Tansho Y, Sher RB, Ravenscroft G, Stauffer JE, Kumar R, Yonashiro R, Müller T, Griffith C, Allen W, Pehlivan D, Harel T, Zenker M, Howting D, Schanze D, Faqeih EA, Almontashiri NAM, Maroofian R, Houlden H, Mazaheri N, Galehdari H, Douglas G, Posey JE, Ryan M, Lupski JR, Laing NG, Joazeiro CAP, Cox GA. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 ;11(1):4625.
Yin J, Chun C-A, Zavadenko NN, Pechatnikova NL, Naumova OYu, Doddapaneni H, Hu J, Muzny DM, Schaaf CP, Grigorenko EL. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel). 2020 ;11(8).
Liu Q, Karolak JA, Grochowski CM, Wilson TA, Rosenfeld JA, Bacino CA, Lalani SR, Patel A, Breman A, Smith JL, Cheung SWai, Lupski JR, Bi W, Stankiewicz P. Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings. Genomics. 2020 ;112(5):2937-2941.
Wang RJ, Thomas GWC, Raveendran M, Harris RA, Doddapaneni H, Muzny DM, Capitanio JP, Radivojac P, Rogers J, Hahn MW. Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability. Genome Res. 2020 ;30(6):826-834.
Montenegro-Garreaud X, Hansen AW, Khayat MM, Chander V, Grochowski CM, Jiang Y, Li H, Mitani T, Kessler E, Jayaseelan J, Shen H, Gezdirici A, Pehlivan D, Meng Q, Rosenfeld JA, Jhangiani SN, Madan-Khetarpal S, Scott DA, Abarca-Barriga H, Trubnykova M, Gingras M-C, Muzny DM, Posey JE, Liu P, Lupski JR, Gibbs RA. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 ;41(12):2094-2104.
Batzir NAssia, Posey JE, Song X, Akdemir ZCoban, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Moreno MNieto, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N, Lupski JR, V Sutton R. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). Am J Med Genet A. 2020 ;182(1):38-52.
Batzir NAssia, Bhagwat PKishor, Larson A, Akdemir ZCoban, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Colon YEnchautegu, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Fan HMar, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO, Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 ;41(3):641-654.
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.
Wang Z, Chen H, Bartz TM, Bielak LF, Chasman DI, Feitosa MF, Franceschini N, Guo X, Lim E, Noordam R, Richard MA, Wang H, Cade B, L Cupples A, de Vries PS, Giulanini F, Lee J, Lemaitre RN, Martin LW, Reiner AP, Rich SS, Schreiner PJ, Sidney S, Sitlani CM, Smith JA, van Dijk KWillems, Yao J, Zhao W, Fornage M, Kardia SLR, Kooperberg C, Liu C-T, Mook-Kanamori DO, Province MA, Psaty BM, Redline S, Ridker PM, Rotter JI, Boerwinkle E, Morrison AC. Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels. Circ Genom Precis Med. 2020 ;13(4):e002772.
Oeyen JPhilip, Baa-Puyoulet P, Benoit JB, Beukeboom LW, Bornberg-Bauer E, Buttstedt A, Calevro F, Cash EI, Chao H, Charles H, Chen M-JMay, Childers C, Cridge AG, Dearden P, Dinh H, Doddapaneni H, Dolan A, Donath A, Dowling D, Dugan S, Duncan E, Elpidina EN, Friedrich M, Geuverink E, Gibson JD, Grath S, Grimmelikhuijzen CJP, Große-Wilde E, Gudobba C, Han Y, Hansson BS, Hauser F, Hughes DST, Ioannidis P, Jacquin-Joly E, Jennings EC, Jones JW, Klasberg S, Lee SL, Lesný P, Lovegrove M, Martin S, Martynov AG, Mayer C, Montagné N, Moris VC, Munoz-Torres M, Murali SCanchi, Muzny DM, Oppert B, Parisot N, Pauli T, Peters RS, Petersen M, Pick C, Persyn E, Podsiadlowski L, Poelchau MF, Provataris P, Qu J, Reijnders MJMF, von Reumont BMarcus, Rosendale AJ, Simão FA, Skelly J, Sotiropoulos AG, Stahl AL, Sumitani M, Szuter EM, Tidswell O, Tsitlakidis E, Vedder L, Waterhouse RM, Werren JH, Wilbrandt J, Worley KC, Yamamoto DS, van de Zande L, Zdobnov EM, Ziesmann T, Gibbs RA, Richards S, Hatakeyama M, Misof B, Niehuis O. Sawfly Genomes Reveal Evolutionary Acquisitions That Fostered the Mega-Radiation of Parasitoid and Eusocial Hymenoptera. Genome Biol Evol. 2020 ;12(7):1099-1188.
Hughes JF, Skaletsky H, Pyntikova T, Koutseva N, Raudsepp T, Brown LG, Bellott DW, Cho T-J, Dugan-Rocha S, Khan Z, Kremitzki C, Fronick C, Graves-Lindsay TA, Fulton L, Warren WC, Wilson RK, Owens E, Womack JE, Murphy WJ, Muzny DM, Worley KC, Chowdhary BP, Gibbs RA, Page DC. Sequence analysis in reveals pervasiveness of X-Y arms races in mammalian lineages. Genome Res. 2020 ;30(12):1716-1726.
Chen G-C, Chai JChoul, Yu B, Michelotti GA, Grove ML, Fretts AM, Daviglus ML, Garcia-Bedoya OL, Thyagarajan B, Schneiderman N, Cai J, Kaplan RC, Boerwinkle E, Qi Q. Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Am J Clin Nutr. 2020 ;112(1):57-65.
Li Y, Ren P, Dawson A, Vasquez HG, Ageedi W, Zhang C, Luo W, Chen R, Li Y, Kim S, Lu HS, Cassis LA, Coselli JS, Daugherty A, Shen YH, LeMaire SA. Single-Cell Transcriptome Analysis Reveals Dynamic Cell Populations and Differential Gene Expression Patterns in Control and Aneurysmal Human Aortic Tissue. Circulation. 2020 ;142(14):1374-1388.
Chen W, Lin J, Wang L, Li X, Zhao S, Liu J, Akdemir ZC, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado MR, Posey JE, Qiu G, Rios JJ, Liu P, Wise CA, Zhang F, Wu Z, Lupski JR, Wu N. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 ;41(1):182-195.
Koneru B, Lopez G, Farooqi A, Conkrite KL, Nguyen TH, Macha SJ, Modi A, Rokita JLynne, Urias E, Hindle A, Davidson H, McCoy K, Nance J, Yazdani V, Irwin MS, Yang S, Wheeler DA, Maris JM, Diskin SJ, C Reynolds P. Telomere Maintenance Mechanisms Define Clinical Outcome in High-Risk Neuroblastoma. Cancer Res. 2020 ;80(12):2663-2675.
Luo S, Surapaneni A, Zheng Z, Rhee EP, Coresh J, Hung AM, Nadkarni GN, Yu B, Boerwinkle E, Tin A, Arking DE, Steinbrenner I, Schlosser P, Köttgen A, Grams ME. Variants, N-Acetylated Amino Acids, and Progression of CKD. Clin J Am Soc Nephrol. 2020 ;16(1):37-47.
Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, L Cupples A, Dartigues J-F, Debette S, Deleuze J-F, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, M Ikram A, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, San Wang L-, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert J-C, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, DeStefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, Farrer LA. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 ;25(8):1859-1875.
Zhao X, Qiao D, Yang C, Kasela S, Kim W, Ma Y, Shrine N, Batini C, Sofer T, Taliun SAGagliano, Sakornsakolpat P, Balte PP, Prokopenko D, Yu B, Lange LA, Dupuis J, Cade BE, Lee J, Gharib SA, Daya M, Laurie CA, Ruczinski I, L Cupples A, Loehr LR, Bartz TM, Morrison AC, Psaty BM, Vasan RS, Wilson JG, Taylor KD, Durda P, W Johnson C, Cornell E, Guo X, Liu Y, Tracy RP, Ardlie KG, Aguet F, VanDenBerg DJ, Papanicolaou GJ, Rotter JI, Barnes KC, Jain D, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Dugan-Perez S, Gupta N, Gabriel S, Rich SS, O'Connor GT, Redline S, Reed RM, Laurie CC, Daviglus ML, Preudhomme LK, Burkart KM, Kaplan RC, Wain LV, Tobin MD, London SJ, Lappalainen T, Oelsner EC, Abecasis GR, Silverman EK, R Barr G, Cho MH, Manichaikul A. Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants. Nat Commun. 2020 ;11(1):5182.