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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: miller de. 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.
Correction to: Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing.
Lyle ANJ, Ohlsen TJD, Miller DE, Brown G, Waligorski N, Stark R, Taylor MR, Puia-Dumitrescu M. Lyle ANJ, et al. Among authors: miller de. Matern Health Neonatol Perinatol. 2023 May 25;9(1):7. doi: 10.1186/s40748-023-00161-5. Matern Health Neonatol Perinatol. 2023. PMID: 37231499 Free PMC article. No abstract available.
Genome Report: chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus).
Nguyen ED, Fard VN, Kim BY, Collins S, Galey M, Nelson BR, Wakenight P, Gable SM, McKenna A, Bammler TK, MacDonald J, Okamura DM, Shendure J, Beier DR, Ramirez JM, Majesky MW, Millen KJ, Tollis M, Miller DE. Nguyen ED, et al. Among authors: miller de. G3 (Bethesda). 2023 Sep 30;13(10):jkad177. doi: 10.1093/g3journal/jkad177. G3 (Bethesda). 2023. PMID: 37552705 Free PMC article.
Applications of long-read sequencing to Mendelian genetics.
Mastrorosa FK, Miller DE, Eichler EE. Mastrorosa FK, et al. Among authors: miller de. Genome Med. 2023 Jun 14;15(1):42. doi: 10.1186/s13073-023-01194-3. Genome Med. 2023. PMID: 37316925 Free PMC article. Review.
Advances in the discovery and analyses of human tandem repeats.
Chaisson MJP, Sulovari A, Valdmanis PN, Miller DE, Eichler EE. Chaisson MJP, et al. Among authors: miller de. Emerg Top Life Sci. 2023 Dec 14;7(3):361-381. doi: 10.1042/ETLS20230074. Emerg Top Life Sci. 2023. PMID: 37905568 Free PMC article. Review.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. Mullegama SV, et al. Among authors: miller de. Am J Hum Genet. 2024 May 14:S0002-9297(24)00167-8. doi: 10.1016/j.ajhg.2024.05.004. Online ahead of print. Am J Hum Genet. 2024. PMID: 38749428 No abstract available.
220 results