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Page 1
Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Cell. 2022 Nov 10;185(23):4409-4427.e18. doi: 10.1016/j.cell.2022.10.009.
Cell. 2022.
PMID: 36368308
Free PMC article.
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium.
Lek M, et al. Among authors: deflaux n.
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
Nature. 2016.
PMID: 27535533
Free PMC article.
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW.
C Yuen RK, et al. Among authors: deflaux n.
Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6.
Nat Neurosci. 2017.
PMID: 28263302
Free PMC article.
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The All of Us Research Program: Data quality, utility, and diversity.
Ramirez AH, Sulieman L, Schlueter DJ, Halvorson A, Qian J, Ratsimbazafy F, Loperena R, Mayo K, Basford M, Deflaux N, Muthuraman KN, Natarajan K, Kho A, Xu H, Wilkins C, Anton-Culver H, Boerwinkle E, Cicek M, Clark CR, Cohn E, Ohno-Machado L, Schully SD, Ahmedani BK, Argos M, Cronin RM, O'Donnell C, Fouad M, Goldstein DB, Greenland P, Hebbring SJ, Karlson EW, Khatri P, Korf B, Smoller JW, Sodeke S, Wilbanks J, Hentges J, Mockrin S, Lunt C, Devaney SA, Gebo K, Denny JC, Carroll RJ, Glazer D, Harris PA, Hripcsak G, Philippakis A, Roden DM; All of Us Research Program.
Ramirez AH, et al. Among authors: deflaux n.
Patterns (N Y). 2022 Aug 12;3(8):100570. doi: 10.1016/j.patter.2022.100570. eCollection 2022 Aug 12.
Patterns (N Y). 2022.
PMID: 36033590
Free PMC article.
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Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis.
Deflaux N, Selvaraj MS, Condon HR, Mayo K, Haidermota S, Basford MA, Lunt C, Philippakis AA, Roden DM, Denny JC, Musick A, Collins R, Allen N, Effingham M, Glazer D, Natarajan P, Bick AG.
Deflaux N, et al.
Nat Commun. 2023 Sep 5;14(1):5419. doi: 10.1038/s41467-023-41185-x.
Nat Commun. 2023.
PMID: 37669985
Free PMC article.
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Cloud-based interactive analytics for terabytes of genomic variants data.
Pan C, McInnes G, Deflaux N, Snyder M, Bingham J, Datta S, Tsao PS.
Pan C, et al. Among authors: deflaux n.
Bioinformatics. 2017 Dec 1;33(23):3709-3715. doi: 10.1093/bioinformatics/btx468.
Bioinformatics. 2017.
PMID: 28961771
Free PMC article.
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The ISB Cancer Genomics Cloud: A Flexible Cloud-Based Platform for Cancer Genomics Research.
Reynolds SM, Miller M, Lee P, Leinonen K, Paquette SM, Rodebaugh Z, Hahn A, Gibbs DL, Slagel J, Longabaugh WJ, Dhankani V, Reyes M, Pihl T, Backus M, Bookman M, Deflaux N, Bingham J, Pot D, Shmulevich I.
Reynolds SM, et al. Among authors: deflaux n.
Cancer Res. 2017 Nov 1;77(21):e7-e10. doi: 10.1158/0008-5472.CAN-17-0617.
Cancer Res. 2017.
PMID: 29092928
Free PMC article.
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Systematic analysis of challenge-driven improvements in molecular prognostic models for breast cancer.
Margolin AA, Bilal E, Huang E, Norman TC, Ottestad L, Mecham BH, Sauerwine B, Kellen MR, Mangravite LM, Furia MD, Vollan HK, Rueda OM, Guinney J, Deflaux NA, Hoff B, Schildwachter X, Russnes HG, Park D, Vang VO, Pirtle T, Youseff L, Citro C, Curtis C, Kristensen VN, Hellerstein J, Friend SH, Stolovitzky G, Aparicio S, Caldas C, Børresen-Dale AL.
Margolin AA, et al. Among authors: deflaux na.
Sci Transl Med. 2013 Apr 17;5(181):181re1. doi: 10.1126/scitranslmed.3006112.
Sci Transl Med. 2013.
PMID: 23596205
Free PMC article.
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