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Uniparental disomy in a population of 32,067 clinical exome trios.
Scuffins J, Keller-Ramey J, Dyer L, Douglas G, Torene R, Gainullin V, Juusola J, Meck J, Retterer K. Scuffins J, et al. Among authors: dyer l. Genet Med. 2021 Jun;23(6):1101-1107. doi: 10.1038/s41436-020-01092-8. Epub 2021 Jan 25. Genet Med. 2021. PMID: 33495530 Free PMC article.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: dyer lh. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744 Free PMC article.
Long-read sequencing and optical genome mapping identify causative gene disruptions in noncoding sequence in two patients with neurologic disease and known chromosome abnormalities.
Sund KL, Liu J, Lee J, Garbe J, Abdelhamed Z, Maag C, Hallinan B, Wu SW, Sperry E, Deshpande A, Stottmann R, Smolarek TA, Dyer LM, Hestand MS. Sund KL, et al. Among authors: dyer lm. Am J Med Genet A. 2024 Dec;194(12):e63818. doi: 10.1002/ajmg.a.63818. Epub 2024 Jul 23. Am J Med Genet A. 2024. PMID: 39041659
New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.
Schnur RE, Dvořáček L, Kalsner L, Shapiro FL, Grebeňová D, Yanni D, Wasserman BN; VIGOR; Dyer LM, Antonarakis SE, Kuželová K. Schnur RE, et al. Among authors: dyer lm. Clin Genet. 2024 Oct;106(4):518-524. doi: 10.1111/cge.14578. Epub 2024 Jun 18. Clin Genet. 2024. PMID: 38894571
Management of the refractory nocturnal enuresis patient to desmopressin in a pediatric population: Desmopressin + oxybutynin vs. desmopressin + imipramine.
Shain S, Gitlin J, Pantazis A, Fine R, Horowitz M, Friedman S, Zelkovic P, Dyer L, Schlussel R, Freyle J, Fang A, Sommer J, Franco I. Shain S, et al. Among authors: dyer l. J Pediatr Urol. 2024 Aug;20(4):603.e1-603.e8. doi: 10.1016/j.jpurol.2024.05.024. Epub 2024 May 31. J Pediatr Urol. 2024. PMID: 38871547
204 results