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Qian X, Liu H, Fu S, Lu J, Hung Y-T, Turner C, Gu H, Chen R. AAV8-Mediated Gene Therapy Rescues Retinal Degeneration Phenotype in a Tlcd3b Knockout Mouse Model. Invest Ophthalmol Vis Sci. 2022 ;63(3):11.
Zhong H, Eblimit A, Moayedi Y, Boye SL, Chiodo VA, Chen Y, Li Y, Nichols RM, Hauswirth WW, Chen R, Mardon G. AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. Gene Ther. 2015 ;22(8):619-27.
Guo F, Ding Y, Caberoy N, Alvarado G, Wang F, Chen R, Li W. ABCF1 extrinsically regulates retinal pigment epithelial cell phagocytosis. Mol Biol Cell. 2015 ;26(12):2311-20.
Weinstock JS, Gopakumar J, Burugula BBharathi, Uddin MMesbah, Jahn N, Belk JA, Bouzid H, Daniel B, Miao Z, Ly N, Mack TM, Luna SE, Prothro KP, Mitchell SR, Laurie CA, Broome JG, Taylor KD, Guo X, Sinner MF, von Falkenhausen AS, Kääb S, Shuldiner AR, O'Connell JR, Lewis JP, Boerwinkle E, Barnes KC, Chami N, Kenny EE, Loos RJF, Fornage M, Hou L, Lloyd-Jones DM, Redline S, Cade BE, Psaty BM, Bis JC, Brody JA, Silverman EK, Yun JH, Qiao D, Palmer ND, Freedman BI, Bowden DW, Cho MH, DeMeo DL, Vasan RS, Yanek LR, Becker LC, Kardia SLR, Peyser PA, He J, Rienstra M, van der Harst P, Kaplan R, Heckbert SR, Smith NL, Wiggins KL, Arnett DK, Irvin MR, Tiwari H, Cutler MJ, Knight S, J Muhlestein B, Correa A, Raffield LM, Gao Y, de Andrade M, Rotter JI, Rich SS, Tracy RP, Konkle BA, Johnsen JM, Wheeler MM, J Smith G, Melander O, Nilsson PM, Custer BS, Duggirala R, Curran JE, Blangero J, McGarvey S, L Williams K, Xiao S, Yang M, C Gu C, Chen Y-DIda, Lee W-J, Marcus GM, Kane JP, Pullinger CR, M Shoemaker B, Darbar D, Roden DM, Albert C, Kooperberg C, Zhou Y, Manson JAE, Desai P, Johnson AD, Mathias RA, Blackwell TW, Abecasis GR, Smith AV, Kang HM, Satpathy AT, Natarajan P, Kitzman JO, Whitsel EA, Reiner AP, Bick AG, Jaiswal S. Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.
Schwarz LC, Wright JA, Gingras M-C, Kondaiah P, Danielpour D, Pimentel M, Sporn MB, Greenberg AH. Aberrant TGF-beta production and regulation in metastatic malignancy. Growth Factors. 1990 ;3(2):115-27.
Haaland WC, Scaduto DI, Maldonado MR, Mansouri DL, Nalini R, Iyer D, Patel S, Guthikonda A, Hampe CS, Balasubramanyam A, Metzker ML. A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. Diabetes Care. 2009 ;32(5):873-7.
Xu J, Reznik E, Lee H-J, Gundem G, Jonsson P, Sarungbam J, Bialik A, Sánchez-Vega F, Creighton CJ, Hoekstra J, Zhang L, Sajjakulnukit P, Kremer D, Tolstyka Z, Casuscelli J, Stirdivant S, Tang J, Schultz N, Jeng P, Dong Y, Su W, Cheng EH, Russo P, Coleman JA, Papaemmanuil E, Chen Y-B, Reuter VE, Sander C, Kennedy SR, Hsieh JJ, Lyssiotis CA, Tickoo SK, A Hakimi A. Abnormal oxidative metabolism in a quiet genomic background underlies clear cell papillary renal cell carcinoma. Elife. 2019 ;8.
van der Zee A-HMaitland-, Boerwinkle E, Arnett DK, Davis BR, Leiendecker-Foster C, Miller MB, Klungel OH, Ford CE, Eckfeldt JH. Absence of an interaction between the angiotensin-converting enzyme insertion-deletion polymorphism and pravastatin on cardiovascular disease in high-risk hypertensive patients: the Genetics of Hypertension-Associated Treatment (GenHAT) study. Am Heart J. 2007 ;153(1):54-8.
Carvalho CMB, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MVE, Liu P, Johnson D, Stankiewicz P, Brown CW, Shaw CA, Hurles ME, Ira G, Hastings PJ, Brunner HG, Lupski JR. Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 ;96(4):555-64.
Saettini F, Poli C, Vengoechea J, Bonanomi S, Orellana JC, Fazio G, Rodriguez FH, Noguera LP, Booth C, Jarur-Chamy V, Shams M, Iascone M, Vukic M, Gasperini S, Quadri M, Seijas ABarroeta, Rivers E, Mauri M, Badolato R, Cazzaniga G, Bugarin C, Gaipa G, Kroes WGM, Moratto D, Dam MM van Oost, Baas F, van der Maarel S, Piazza R, Coban-Akdemir ZH, Lupski JR, Yuan B, Chinn IK, Daxinger L, Biondi A. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 ;137(4):493-499.
Liu Y, Chen S, Li Z, Morrison AC, Boerwinkle E, Lin X. ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies. Am J Hum Genet. 2019 ;104(3):410-421.
Kingston H, Stilp AM, Gordon W, Broome J, Gogarten SM, Ling H, Barnard J, Dugan-Perez S, Ellinor PT, Gabriel S, Germer S, Gibbs RA, Gupta N, Rice K, Smith AV, Zody MC, Blackman SM, Cutting G, Knowles MR, Zhou Y-H, Rosenfeld M, Gibson RL, Bamshad M, Fohner A, Blue EE. Accounting for population structure in genetic studies of cystic fibrosis. HGG Adv. 2022 ;3(3):100117.
Midorikawa Y, Yamamoto S, Tatsuno K, Renard-Guillet C, Tsuji S, Hayashi A, Ueda H, Fukuda S, Fujita T, Katoh H, Ishikawa S, Covington KR, Creighton CJ, Sugitani M, Wheeler DA, Shibata T, Nagae G, Takayama T, Aburatani H. Accumulation of Molecular Aberrations Distinctive to Hepatocellular Carcinoma Progression. Cancer Res. 2020 ;80(18):3810-3819.
Langlois AWR, El-Boraie A, Fukunaga K, Mushiroda T, Kubo M, Lerman C, Knight J, Scherer SE, Chenoweth MJ, Tyndale RF. Accuracy and applications of sequencing and genotyping approaches for CYP2A6 and homologous genes. Pharmacogenet Genomics. 2022 ;32(4):159-172.
Wenger AM, Peluso P, Rowell WJ, Chang P-C, Hall RJ, Concepcion GT, Ebler J, Fungtammasan A, Kolesnikov A, Olson ND, Töpfer A, Alonge M, Mahmoud M, Qian Y, Chin C-S, Phillippy AM, Schatz MC, Myers G, DePristo MA, Ruan J, Marschall T, Sedlazeck FJ, Zook JM, Li H, Koren S, Carroll A, Rank DR, Hunkapiller MW. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 ;37(10):1155-1162.
Sedlazeck FJ, Rescheneder P, Smolka M, Fang H, Nattestad M, von Haeseler A, Schatz MC. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 ;15(6):461-468.
Metzker ML, Allain KM, Gibbs RA. Accurate determination of DNA in agarose gels using the novel algorithm GelScann(1.0). Comput Appl Biosci. 1995 ;11(2):187-94.