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2023
Thomas D, Garate D, Fu S, Bashir A, Moss N, Nair M. Telehealth reform post-public health emergency: crucial next steps. Proc (Bayl Univ Med Cent). 2023 ;36(2):269-271.
Fair D, Maese L, Chi Y-Y, Li M, Hawkins DS, Venkatramani R, Rudzinski E, Parham D, Teot L, Malkin D, Plon SE, Li H, Sabo A, Lupo PJ, Schiffman JD. TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report. Pediatr Blood Cancer. 2023 ;:e30413.
Schlosser P, Zhang J, Liu H, Surapaneni AL, Rhee EP, Arking DE, Yu B, Boerwinkle E, Welling PA, Chatterjee N, Susztak K, Coresh J, Grams ME. Transcriptome- and proteome-wide association studies nominate determinants of kidney function and damage. Genome Biol. 2023 ;24(1):150.
Hasbani NR, Westerman KE, Kwak SHeon, Chen H, Li X, Di Corpo D, Wessel J, Bis JC, Sarnowski C, Wu P, Bielak LF, Guo X, Heard-Costa N, Kinney GL, Mahaney MC, Montasser ME, Palmer ND, Raffield LM, Terry JG, Yanek LR, Bon J, Bowden DW, Brody JA, Duggirala R, Jacobs DR, Kalyani RR, Lange LA, Mitchell BD, Smith JA, Taylor KD, Carson AP, Curran JE, Fornage M, Freedman BI, Gabriel S, Gibbs RA, Gupta N, Kardia SLR, Kral BG, Momin Z, Newman AB, Post WS, Viaud-Martinez KA, Young KA, Becker LC, Bertoni AG, Blangero J, Carr JJ, Pratte K, Psaty BM, Rich SS, Wu JC, Malhotra R, Peyser PA, Morrison AC, Vasan RS, Lin X, Rotter JI, Meigs JB, Manning AK, de Vries PS. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 ;16(6):e004176.
2022
Liang J, Wang H, Cade BE, Kurniansyah N, He KY, Lee J, Sands SA, Brody JA, Chen H, Gottlieb DJ, Evans DS, Guo X, Gharib SA, Hale L, Hillman DR, Lutsey PL, Mukherjee S, Ochs-Balcom HM, Palmer LJ, Purcell S, Saxena R, Patel SR, Stone KL, Tranah GJ, Boerwinkle E, Lin X, Liu Y, Psaty BM, Vasan RS, Manichaikul A, Rich SS, Rotter JI, Sofer T, Redline S, Zhu X. Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea. Am J Respir Crit Care Med. 2022 ;206(10):1271-1280.
Lopes JL, Harris K, Karow MBeth, Peterson SE, Kluge ML, Kotzer KE, Lopes GS, Larson NB, Bielinski SJ, Scherer SE, Wang L, Weinshilboum RM, Black JL, Moyer AM. Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?. J Mol Diagn. 2022 ;24(3):253-261.
Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet A-C, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. Am J Hum Genet. 2022 ;109(12):2270-2282.
Walker K, Kalra D, Lowdon R, Chen G, Molik D, Soto DC, Dabbaghie F, Khleifat AAl, Mahmoud M, Paulin LF, Raza MSohail, Pfeifer SP, Agustinho DPaiva, Aliyev E, Avdeyev P, Barrozo ER, Behera S, Billingsley K, Chong LChuin, Choubey D, De Coster W, Fu Y, Gener AR, Hefferon T, Henke DMorgan, Höps W, Illarionova A, Jochum MD, Jose M, Kesharwani RK, Kolora SRohit Raj, Kubica J, Lakra P, Lattimer D, Liew C-S, Lo B-W, Lo C, Lötter A, Majidian S, Mendem SKumar, Mondal R, Ohmiya H, Parvin N, Peralta C, Poon C-L, Prabhakaran R, Saitou M, Sammi A, Sanio P, Sapoval N, Syed N, Treangen T, Wang G, Xu T, Yang J, Zhang S, Zhou W, Sedlazeck FJ, Busby B. The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms. F1000Res. 2022 ;11:530.
Brown GJ, Cañete PF, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, T Andrews D, Field MA, Tvorogov D, Lopez AF, Babon JJ, López CAparicio, Gónzalez-Murillo Á, Garulo DClemente, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, Collantes Cde Lucas, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022 ;605(7909):349-356.
Huang L, Rosen JD, Sun Q, Chen J, Wheeler MM, Zhou Y, Min Y-I, Kooperberg C, Conomos MP, Stilp AM, Rich SS, Rotter JI, Manichaikul A, Loos RJF, Kenny EE, Blackwell TW, Smith AV, Jun G, Sedlazeck FJ, Metcalf GA, Boerwinkle E, Raffield LM, Reiner AP, Auer PL, Li Y. TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data. Am J Hum Genet. 2022 ;109(6):1175-1181.
Liu Z, Roberts R, Mercer TR, Xu J, Sedlazeck FJ, Tong W. Towards accurate and reliable resolution of structural variants for clinical diagnosis. Genome Biol. 2022 ;23(1):68.
English AC, Menon VK, Gibbs RA, Metcalf GA, Sedlazeck FJ. Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 ;23(1):271.
DiCorpo D, LeClair J, Cole JB, Sarnowski C, Ahmadizar F, Bielak LF, Blokstra A, Bottinger EP, Chaker L, Chen Y-DI, Chen Y, de Vries PS, Faquih T, Ghanbari M, Gudmundsdottir V, Guo X, Hasbani NR, Ibi D, M Ikram A, Kavousi M, Leonard HL, Leong A, Mercader JM, Morrison AC, Nadkarni GN, Nalls MA, Noordam R, Preuss M, Smith JA, Trompet S, Vissink P, Yao J, Zhao W, Boerwinkle E, Goodarzi MO, Gudnason V, J Jukema W, Kardia SLR, Loos RJF, Liu C-T, Manning AK, Mook-Kanamori D, Pankow JS, H Picavet SJ, Sattar N, Simonsick EM, Verschuren WMMonique, van Dijk KWillems, Florez JC, Rotter JI, Meigs JB, Dupuis J, Udler MS. Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes in 454,193 Individuals Across 13 Cohorts. Diabetes Care. 2022 ;45(3):674-683.
2021
Fu J, Fu S, Yin S, Cheng J, Liu X, Jin Z, He T, Fu J. Technical note: multi-alleles at the DYS385ab locus with high frequency in a Han Chinese population from southwestern China. Int J Legal Med. 2021 ;135(5):1737-1741.
De Coster W, Weissensteiner MH, Sedlazeck FJ. Towards population-scale long-read sequencing. Nat Rev Genet. 2021 ;22(9):572-587.
Wei C, Zou H, Xiao T, Liu X, Wang Q, Cheng J, Fu S, Peng J, Xie X, Fu J. TQFL12, a novel synthetic derivative of TQ, inhibits triple-negative breast cancer metastasis and invasion through activating AMPK/ACC pathway. J Cell Mol Med. 2021 ;25(21):10101-10110.
Chen J, Spracklen CN, Marenne G, Varshney A, Corbin LJ, Luan J'an, Willems SM, Wu Y, Zhang X, Horikoshi M, Boutin TS, Mägi R, Waage J, Li-Gao R, Chan KHang Katie, Yao J, Anasanti MD, Chu AY, Claringbould A, Heikkinen J, Hong J, Hottenga J-J, Huo S, Kaakinen MA, Louie T, Marz W, Moreno-Macias H, Ndungu A, Nelson SC, Nolte IM, North KE, Raulerson CK, Ray D, Rohde R, Rybin D, Schurmann C, Sim X, Southam L, Stewart ID, Wang CA, Wang Y, Wu P, Zhang W, Ahluwalia TS, Appel EVR, Bielak LF, Brody JA, Burtt NP, Cabrera CP, Cade BE, Chai JFang, Chai X, Chang L-C, Chen C-H, Chen BH, Chitrala KNaidu, Chiu Y-F, de Haan HG, Delgado GE, Demirkan A, Duan Q, Engmann J, Fatumo SA, Gayán J, Giulianini F, Gong JHo, Gustafsson S, Hai Y, Hartwig FP, He J, Heianza Y, Huang T, Huerta-Chagoya A, Hwang MYeong, Jensen RA, Kawaguchi T, Kentistou KA, Kim YJin, Kleber ME, Kooner IK, Lai S, Lange LA, Langefeld CD, Lauzon M, Li M, Ligthart S, Liu J, Loh M, Long J, Lyssenko V, Mangino M, Marzi C, Montasser ME, Nag A, Nakatochi M, Noce D, Noordam R, Pistis G, Preuss M, Raffield L, Rasmussen-Torvik LJ, Rich SS, Robertson NR, Rueedi R, Ryan K, Sanna S, Saxena R, Schraut KE, Sennblad B, Setoh K, Smith AV, Sparsø T, Strawbridge RJ, Takeuchi F, Tan J, Trompet S, van den Akker E, van der Most PJ, Verweij N, Vogel M, Wang H, Wang C, Wang N, Warren HR, Wen W, Wilsgaard T, Wong A, Wood AR, Xie T, Zafarmand MHadi, Zhao J-H, Zhao W, Amin N, Arzumanyan Z, Astrup A, Bakker SJL, Baldassarre D, Beekman M, Bergman RN, Bertoni A, Blüher M, Bonnycastle LL, Bornstein SR, Bowden DW, Cai Q, Campbell A, Campbell H, Chang YCheng, de Geus EJC, Dehghan A, Du S, Eiriksdottir G, Farmaki AEleni, Frånberg M, Fuchsberger C, Gao Y, Gjesing AP, Goel A, Han S, Hartman CA, Herder C, Hicks AA, Hsieh C-H, Hsueh WA, Ichihara S, Igase M, M Ikram A, W Johnson C, Jørgensen ME, Joshi PK, Kalyani RR, Kandeel FR, Katsuya T, Khor CChuen, Kiess W, Kolcic I, Kuulasmaa T, Kuusisto J, Läll K, Lam K, Lawlor DA, Lee NR, Lemaitre RN, Li H, Lin S-Y, Lindström J, Linneberg A, Liu J, Lorenzo C, Matsubara T, Matsuda F, Mingrone G, Mooijaart S, Moon S, Nabika T, Nadkarni GN, Nadler JL, Nelis M, Neville MJ, Norris JM, Ohyagi Y, Peters A, Peyser PA, Polasek O, Qi Q, Raven D, Reilly DF, Reiner A, Rivideneira F, Roll K, Rudan I, Sabanayagam C, Sandow K, Sattar N, Schürmann A, Shi J, Stringham HM, Taylor KD, Teslovich TM, Thuesen B, Timmers PRHJ, Tremoli E, Tsai MY, Uitterlinden A, van Dam RM, van Heemst D, Vlieg Avan Hylcka, Van Vliet-Ostaptchouk JV, Vangipurapu J, Vestergaard H, Wang T, van Dijk KWillems, Zemunik T, Abecasis GR, Adair LS, Aguilar-Salinas CAlberto, Alarcón-Riquelme ME, An P, Aviles-Santa L, Becker DM, Beilin LJ, Bergmann S, Bisgaard H, Black C, Boehnke M, Boerwinkle E, Böhm BO, Bønnelykke K, Boomsma DI, Bottinger EP, Buchanan TA, Canouil M, Caulfield MJ, Chambers JC, Chasman DI, Chen Y-DIda, Cheng C-Y, Collins FS, Correa A, Cucca F, H de Silva J, Dedoussis G, Elmståhl S, Evans MK, Ferrannini E, Ferrucci L, Florez JC, Franks PW, Frayling TM, Froguel P, Gigante B, Goodarzi MO, Gordon-Larsen P, Grallert H, Grarup N, Grimsgaard S, Groop L, Gudnason V, Guo X, Hamsten A, Hansen T, Hayward C, Heckbert SR, Horta BL, Huang W, Ingelsson E, James PS, Jarvelin M-R, Jonas JB, J Jukema W, Kaleebu P, Kaplan R, Kardia SLR, Kato N, Keinanen-Kiukaanniemi SM, Kim B-J, Kivimaki M, Koistinen HA, Kooner JS, Körner A, Kovacs P, Kuh D, Kumari M, Kutalik Z, Laakso M, Lakka TA, Launer LJ, Leander K, Li H, Lin X, Lind L, Lindgren C, Liu S, Loos RJF, Magnusson PKE, Mahajan A, Metspalu A, Mook-Kanamori DO, Mori TA, Munroe PB, Njølstad I, O'Connell JR, Oldehinkel AJ, Ong KK, Padmanabhan S, Palmer CNA, Palmer ND, Pedersen O, Pennell CE, Porteous DJ, Pramstaller PP, Province MA, Psaty BM, Qi L, Raffel LJ, Rauramaa R, Redline S, Ridker PM, Rosendaal FR, Saaristo TE, Sandhu M, Saramies J, Schneiderman N, Schwarz P, Scott LJ, Selvin E, Sever P, Shu X-O, P Slagboom E, Small KS, Smith BH, Snieder H, Sofer T, Sørensen TIA, Spector TD, Stanton A, Steves CJ, Stumvoll M, Sun L, Tabara Y, E Tai S, Timpson NJ, Tonjes A, Tuomilehto J, Tusie T, Uusitupa M, van der Harst P, van Duijn C, Vitart V, Vollenweider P, Vrijkotte TGM, Wagenknecht LE, Walker M, Wang YX, Wareham NJ, Watanabe RM, Watkins H, Wei WB, Wickremasinghe AR, Willemsen G, Wilson JF, Wong T-Y, Wu J-Y, Xiang AH, Yanek LR, Yengo L, Yokota M, Zeggini E, Zheng W, Zonderman AB, Rotter JI, Gloyn AL, McCarthy MI, Dupuis J, Meigs JB, Scott RA, Prokopenko I, Leong A, Liu C-T, Parker SCJ, Mohlke KL, Langenberg C, Wheeler E, Morris AP, Barroso I. The trans-ancestral genomic architecture of glycemic traits. Nat Genet. 2021 ;53(6):840-860.
Liang Q, Wu N, Zaneveld S, Liu H, Fu S, Wang K, Bertrand R, Wang J, Li Y, Chen R. Transcript isoforms of Reep6 have distinct functions in the retina. Hum Mol Genet. 2021 ;30(21):1907-1918.
Gou X, Anurag M, Lei JT, Kim B-J, Singh P, Seker S, Fandino D, Han A, Rehman S, Hu J, Korchina V, Doddapaneni H, Dobrolecki LE, Mitsiades N, Lewis MT, Welm AL, Li S, Lee AV, Robinson DR, Foulds CE, Ellis MJ. Transcriptional Reprogramming Differentiates Active from Inactive ESR1 Fusions in Endocrine Therapy-Refractory Metastatic Breast Cancer. Cancer Res. 2021 ;81(24):6259-6272.
Farinholt T, Doddapaneni H, Qin X, Menon V, Meng Q, Metcalf GA, Chao H, Gingras M-C, Farinholt P, Agrawal C, Muzny DM, Piedra PA, Gibbs RA, Petrosino J. Transmission event of SARS-CoV-2 Delta variant reveals multiple vaccine breakthrough infections. medRxiv. 2021 ;.
Farinholt T, Doddapaneni H, Qin X, Menon V, Meng Q, Metcalf GA, Chao H, Gingras M-C, Avadhanula V, Farinholt P, Agrawal C, Muzny DM, Piedra PA, Gibbs RA, Petrosino J. Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections. BMC Med. 2021 ;19(1):255.
Efthymiou S, Herman I, Rahman F, Anwar N, Maroofian R, Yip J, Mitani T, Calame DG, Hunter JV, V Sutton R, Gulec EYilmaz, Duan R, Fatih JM, Marafi D, Pehlivan D, Jhangiani SN, Gibbs RA, Posey JE, Maqbool S, Lupski JR, Houlden H. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 ;185(7):2241-2249.
2020
Gilpatrick T, Lee I, Graham JE, Raimondeau E, Bowen R, Heron A, Downs B, Sukumar S, Sedlazeck FJ, Timp W. Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol. 2020 ;38(4):433-438.
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.