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Extend the benchmarking indel set by manual review using the individual cell line sequencing data from the Sequencing Quality Control 2 (SEQC2) project.
Gong B, Li D, Zhang Y, Kusko R, Lababidi S, Cao Z, Chen M, Chen N, Chen Q, Chen Q, Dai J, Gan Q, Gao Y, Guo M, Hariani G, He Y, Hou W, Jiang H, Kushwaha G, Li JL, Li J, Li Y, Liu LC, Liu R, Liu S, Meriaux E, Mo M, Moore M, Moss TJ, Niu Q, Patel A, Ren L, Saremi NF, Shang E, Shang J, Song P, Sun S, Urban BJ, Wang D, Wang S, Wen Z, Xiong X, Yang J, Yin L, Zhang C, Zhang R, Bhandari A, Cai W, Eterovic AK, Megherbi DB, Shi T, Suo C, Yu Y, Zheng Y, Novoradovskaya N, Sears RL, Shi L, Jones W, Tong W, Xu J. Gong B, et al. Among authors: sears rl. Sci Rep. 2024 Mar 25;14(1):7028. doi: 10.1038/s41598-024-57439-7. Sci Rep. 2024. PMID: 38528062 Free PMC article.
Human placental cytotrophoblast epigenome dynamics over gestation and alterations in placental disease.
Zhang B, Kim MY, Elliot G, Zhou Y, Zhao G, Li D, Lowdon RF, Gormley M, Kapidzic M, Robinson JF, McMaster MT, Hong C, Mazor T, Hamilton E, Sears RL, Pehrsson EC, Marra MA, Jones SJM, Bilenky M, Hirst M, Wang T, Costello JF, Fisher SJ. Zhang B, et al. Among authors: sears rl. Dev Cell. 2021 May 3;56(9):1238-1252.e5. doi: 10.1016/j.devcel.2021.04.001. Epub 2021 Apr 22. Dev Cell. 2021. PMID: 33891899 Free PMC article.
WashU Epigenome Browser update 2019.
Li D, Hsu S, Purushotham D, Sears RL, Wang T. Li D, et al. Among authors: sears rl. Nucleic Acids Res. 2019 Jul 2;47(W1):W158-W165. doi: 10.1093/nar/gkz348. Nucleic Acids Res. 2019. PMID: 31165883 Free PMC article.
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Tranchant C, Anheim M, Ayrignac X, Goizet C, Vidailhet M, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D; French PFBC study group; Oliveira JR, Garavaglia B, Coppola G, Nicolas G. Ramos EM, et al. Among authors: sears rl. Eur J Hum Genet. 2018 Oct;26(10):1462-1477. doi: 10.1038/s41431-018-0185-4. Epub 2018 Jun 28. Eur J Hum Genet. 2018. PMID: 29955172 Free PMC article.
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Legati A, et al. Among authors: sears rl. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938945 Free PMC article.
A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy.
Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas AM, Hsu SC, Sears RL, Chatzopoulou D, Huang AY, Wojta KJ, Klein E, Lee J, Beekly DL, Boxer A, Faber KM, Haase CM, Miller J, Poon WW, Rosen A, Rosen H, Sapozhnikova A, Shapira J, Varpetian A, Foroud TM, Levenson RW, Levey AI, Kukull WA, Mendez MF, Ringman J, Chui H, Cotman C, DeCarli C, Miller BL, Geschwind DH, Coppola G. Chen JA, et al. Among authors: sears rl. JAMA Neurol. 2015 Apr;72(4):414-22. doi: 10.1001/jamaneurol.2014.4040. JAMA Neurol. 2015. PMID: 25706306 Free PMC article.
Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser.
Zhou X, Li D, Zhang B, Lowdon RF, Rockweiler NB, Sears RL, Madden PA, Smirnov I, Costello JF, Wang T. Zhou X, et al. Among authors: sears rl. Nat Biotechnol. 2015 Apr;33(4):345-6. doi: 10.1038/nbt.3158. Nat Biotechnol. 2015. PMID: 25690851 Free PMC article. No abstract available.
An epigenetic signature in peripheral blood associated with the haplotype on 17q21.31, a risk factor for neurodegenerative tauopathy.
Li Y, Chen JA, Sears RL, Gao F, Klein ED, Karydas A, Geschwind MD, Rosen HJ, Boxer AL, Guo W, Pellegrini M, Horvath S, Miller BL, Geschwind DH, Coppola G. Li Y, et al. Among authors: sears rl. PLoS Genet. 2014 Mar 6;10(3):e1004211. doi: 10.1371/journal.pgen.1004211. eCollection 2014 Mar. PLoS Genet. 2014. PMID: 24603599 Free PMC article.
13 results