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461 results

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Page 1
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM, Lawlor JMJ, Handley LH, Latner DR, Bonnstetter ZT, Finnila CR, Thompson ML, Boston LB, Williams M, Nunez IR, Jenkins J, Kelley WV, Bebin EM, Lopez MA, Hurst ACE, Korf BR, Schmutz J, Grimwood J, Cooper GM. Hiatt SM, et al. Among authors: cooper gm. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304633. doi: 10.1101/2024.03.22.24304633. medRxiv. 2024. PMID: 38585854 Free PMC article. Preprint.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Felker SA, Lawlor JM, Hiatt SM, Thompson ML, Latner DR, Finnila CR, Bowling KM, Bonnstetter ZT, Bonini KE, Kelly NR, Kelley WV, Hurst AC, Kelly MA, Nakouzi G, Hendon LG, Bebin EM, Kenny EE, Cooper GM. Felker SA, et al. Among authors: cooper gm. bioRxiv [Preprint]. 2023 Jan 13:2023.01.12.523654. doi: 10.1101/2023.01.12.523654. bioRxiv. 2023. PMID: 36711854 Free PMC article. Updated. Preprint.
Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs.
Moyers BA, Loupe JM, Felker SA, Lawlor JMJ, Anderson AG, Rodriguez-Nunez I, Bunney WE, Bunney BG, Cartagena PM, Sequeira A, Watson SJ, Akil H, Mendenhall EM, Cooper GM, Myers RM. Moyers BA, et al. Among authors: cooper gm. bioRxiv [Preprint]. 2023 Oct 9:2023.10.06.561245. doi: 10.1101/2023.10.06.561245. bioRxiv. 2023. PMID: 37873117 Free PMC article. Preprint.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Green RC, et al. Among authors: cooper gm. Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.002. Am J Hum Genet. 2016. PMID: 27392080 Free PMC article. No abstract available.
Single-cell genomics and regulatory networks for 388 human brains.
Emani PS, Liu JJ, Clarke D, Jensen M, Warrell J, Gupta C, Meng R, Lee CY, Xu S, Dursun C, Lou S, Chen Y, Chu Z, Galeev T, Hwang A, Li Y, Ni P, Zhou X; PsychENCODE Consortium‡; Bakken TE, Bendl J, Bicks L, Chatterjee T, Cheng L, Cheng Y, Dai Y, Duan Z, Flaherty M, Fullard JF, Gancz M, Garrido-Martín D, Gaynor-Gillett S, Grundman J, Hawken N, Henry E, Hoffman GE, Huang A, Jiang Y, Jin T, Jorstad NL, Kawaguchi R, Khullar S, Liu J, Liu J, Liu S, Ma S, Margolis M, Mazariegos S, Moore J, Moran JR, Nguyen E, Phalke N, Pjanic M, Pratt H, Quintero D, Rajagopalan AS, Riesenmy TR, Shedd N, Shi M, Spector M, Terwilliger R, Travaglini KJ, Wamsley B, Wang G, Xia Y, Xiao S, Yang AC, Zheng S, Gandal MJ, Lee D, Lein ES, Roussos P, Sestan N, Weng Z, White KP, Won H, Girgenti MJ, Zhang J, Wang D, Geschwind D, Gerstein M; PsychENCODE Consortium. Emani PS, et al. Science. 2024 May 24;384(6698):eadi5199. doi: 10.1126/science.adi5199. Epub 2024 May 24. Science. 2024. PMID: 38781369
Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain.
Wen C, Margolis M, Dai R, Zhang P, Przytycki PF, Vo DD, Bhattacharya A, Matoba N, Tang M, Jiao C, Kim M, Tsai E, Hoh C, Aygün N, Walker RL, Chatzinakos C, Clarke D, Pratt H; PsychENCODE Consortium†; Peters MA, Gerstein M, Daskalakis NP, Weng Z, Jaffe AE, Kleinman JE, Hyde TM, Weinberger DR, Bray NJ, Sestan N, Geschwind DH, Roeder K, Gusev A, Pasaniuc B, Stein JL, Love MI, Pollard KS, Liu C, Gandal MJ; PsychENCODE Consortium. Wen C, et al. Science. 2024 May 24;384(6698):eadh0829. doi: 10.1126/science.adh0829. Epub 2024 May 24. Science. 2024. PMID: 38781368
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex.
Huuki-Myers LA, Spangler A, Eagles NJ, Montgomery KD, Kwon SH, Guo B, Grant-Peters M, Divecha HR, Tippani M, Sriworarat C, Nguyen AB, Ravichandran P, Tran MN, Seyedian A; PsychENCODE Consortium†; Hyde TM, Kleinman JE, Battle A, Page SC, Ryten M, Hicks SC, Martinowich K, Collado-Torres L, Maynard KR; PsychENCODE Consortium. Huuki-Myers LA, et al. Science. 2024 May 24;384(6698):eadh1938. doi: 10.1126/science.adh1938. Epub 2024 May 24. Science. 2024. PMID: 38781370
Multiomic profiling of transcription factor binding and function in human brain.
Loupe JM, Anderson AG, Rizzardi LF, Rodriguez-Nunez I, Moyers B, Trausch-Lowther K, Jain R, Bunney WE, Bunney BG, Cartagena P, Sequeira A, Watson SJ, Akil H, Cooper GM, Myers RM. Loupe JM, et al. Among authors: cooper gm. Nat Neurosci. 2024 Jun 3. doi: 10.1038/s41593-024-01658-8. Online ahead of print. Nat Neurosci. 2024. PMID: 38831039
Massively parallel characterization of regulatory elements in the developing human cortex.
Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM; PsychENCODE Consortium‡; Pollen AA, Nowakowski TJ, Ahituv N, Pollard KS; PsychENCODE Consortium. Deng C, et al. Science. 2024 May 24;384(6698):eadh0559. doi: 10.1126/science.adh0559. Epub 2024 May 24. Science. 2024. PMID: 38781390
461 results