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Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study.
Nicolau S, Malhotra J, Kaler M, Magistrado-Coxen P, Iammarino MA, Reash NF, Frair EC, Wijeratne S, Kelly BJ, White P, Lowes LP, Waldrop MA, Flanigan KM. Nicolau S, et al. Among authors: white p. J Neuromuscul Dis. 2024;11(3):679-685. doi: 10.3233/JND-230107. J Neuromuscul Dis. 2024. PMID: 38461513 Free PMC article.
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. Koboldt DC, et al. Among authors: white p. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 30054298 Free PMC article.
Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity.
Miller AR, Wijeratne S, McGrath SD, Schieffer KM, Miller KE, Lee K, Mathew M, LaHaye S, Fitch JR, Kelly BJ, White P, Mardis ER, Wilson RK, Cottrell CE, Magrini V. Miller AR, et al. Among authors: white p. J Mol Diagn. 2022 Dec;24(12):1292-1306. doi: 10.1016/j.jmoldx.2022.09.003. Epub 2022 Sep 30. J Mol Diagn. 2022. PMID: 36191838 Free article.
Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.
Gordon DM, Cunningham D, Zender G, Lawrence PJ, Penaloza JS, Lin H, Fitzgerald-Butt SM, Myers K, Duong T, Corsmeier DJ, Gaither JB, Kuck HC, Wijeratne S, Moreland B, Kelly BJ; Baylor-Johns Hopkins Center for Mendelian Genomics; Garg V, White P, McBride KL. Gordon DM, et al. Among authors: white p. PLoS Genet. 2022 Jun 23;18(6):e1010236. doi: 10.1371/journal.pgen.1010236. eCollection 2022 Jun. PLoS Genet. 2022. PMID: 35737725 Free PMC article.
HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae.
Santana EA, Harrison A, Zhang X, Baker BD, Kelly BJ, White P, Liu Y, Munson RS Jr. Santana EA, et al. Among authors: white p. PLoS One. 2014 Aug 26;9(8):e105644. doi: 10.1371/journal.pone.0105644. eCollection 2014. PLoS One. 2014. PMID: 25157846 Free PMC article.
5,127 results