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Association of Common and Rare Variants with Alzheimer's Disease in over 13,000 Diverse Individuals with Whole-Genome Sequencing from the Alzheimer's Disease Sequencing Project.
Lee WP, Choi SH, Shea MG, Cheng PL, Dombroski BA, Pitsillides AN, Heard-Costa NL, Wang H, Bulekova K, Kuzma AB, Leung YY, Farrell JJ, Lin H, Naj A, Blue EE, Nusetor F, Wang D, Boerwinkle E, Bush WS, Zhang X, De Jager PL, Dupuis J, Farrer LA, Fornage M, Martin E, Pericak-Vance M, Seshadri S, Wijsman EM, Wang LS, Schellenberg GD, Destefano AL, Haines JL, Peloso GM. Lee WP, et al. Among authors: blue ee. medRxiv [Preprint]. 2023 Sep 2:2023.09.01.23294953. doi: 10.1101/2023.09.01.23294953. medRxiv. 2023. PMID: 37693521 Free PMC article. Preprint.
Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.
Vardarajan BN, Barral S, Jaworski J, Beecham GW, Blue E, Tosto G, Reyes-Dumeyer D, Medrano M, Lantigua R, Naj A, Thornton T, DeStefano A, Martin E, Wang LS, Brown L, Bush W, van Duijn C, Goate A, Farrer L, Haines JL, Boerwinkle E, Schellenberg G, Wijsman E, Pericak-Vance MA, Mayeux R; Alzheimer's Disease Sequencing Project; Wang LS. Vardarajan BN, et al. Ann Clin Transl Neurol. 2018 Mar 13;5(4):406-417. doi: 10.1002/acn3.537. eCollection 2018 Apr. Ann Clin Transl Neurol. 2018. PMID: 29688227 Free PMC article.
Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data.
Wang Y, Sarnowski C, Lin H, Pitsillides AN, Heard-Costa NL, Choi SH, Wang D, Bis JC, Blue EE; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Boerwinkle E, De Jager PL, Fornage M, Wijsman EM, Seshadri S, Dupuis J, Peloso GM, DeStefano AL; Alzheimer’s Disease Sequencing Project (ADSP). Wang Y, et al. Among authors: blue ee. medRxiv [Preprint]. 2023 Aug 29:2023.08.28.23294631. doi: 10.1101/2023.08.28.23294631. medRxiv. 2023. PMID: 37693453 Free PMC article. Updated. Preprint.
Genetic Examination of Hematological Parameters in SARS-CoV-2 Infection and COVID-19.
Rowland B, Sun Q, Wang W, Miller-Fleming T, Cox N, Graff M, Faucon A, Shuey MM, Blue EE, Auer P, Li Y, Sankaran VG, Reiner AP, Raffield LM. Rowland B, et al. Among authors: blue ee. medRxiv [Preprint]. 2022 Feb 28:2022.02.28.22271562. doi: 10.1101/2022.02.28.22271562. medRxiv. 2022. PMID: 35262092 Free PMC article. Updated. Preprint.
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Cheng YH, Ranchalis J, Mao Y, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB. Vollger MR, et al. Among authors: blue ee. bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559521. doi: 10.1101/2023.09.26.559521. bioRxiv. 2023. PMID: 37808736 Free PMC article. Preprint.
De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects.
Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ. Ma M, et al. medRxiv [Preprint]. 2024 Jan 9:2024.01.08.23300523. doi: 10.1101/2024.01.08.23300523. medRxiv. 2024. PMID: 38260438 Free PMC article. Preprint.
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: blue ee. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN, Matoy EJ, Uppala LV, Draves SB, Watson CJ, Sefranek BA, Stacey ML, Anderson SP, Belshan MA, Blue EE, Huff CD, Fu Y, Stessman HAF. Plowman JN, et al. Among authors: blue ee. HGG Adv. 2024 May 10;5(3):100306. doi: 10.1016/j.xhgg.2024.100306. Online ahead of print. HGG Adv. 2024. PMID: 38734904 Free article.
49 results