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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