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SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq).
Johnson SH, Smadbeck JB, Smoley SA, Gaitatzes A, Murphy SJ, Harris FR, Drucker TM, Zenka RM, Pitel BA, Rowsey RA, Hoppman NL, Aypar U, Sukov WR, Jenkins RB, Feldman AL, Kearney HM, Vasmatzis G. Johnson SH, et al. Among authors: rowsey ra. Cancer Genet. 2018 Feb;221:1-18. doi: 10.1016/j.cancergen.2017.11.009. Epub 2017 Dec 2. Cancer Genet. 2018. PMID: 29405991
Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia.
Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Koon SJ, Webley MR, McGrath M, Bayerl MG, Baughn LB, Rowsey RA, Ketterling RP, Greipp PT, Hoppman NL. Peterson JF, et al. Among authors: rowsey ra. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003533. doi: 10.1101/mcs.a003533. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30936193 Free PMC article.
Characterization of TCF3 rearrangements in pediatric B-lymphoblastic leukemia/lymphoma by mate-pair sequencing (MPseq) identifies complex genomic rearrangements and a novel TCF3/TEF gene fusion.
Rowsey RA, Smoley SA, Williamson CM, Vasmatzis G, Smadbeck JB, Ning Y, Greipp PT, Hoppman NL, Baughn LB, Ketterling RP, Peterson JF. Rowsey RA, et al. Blood Cancer J. 2019 Oct 1;9(10):81. doi: 10.1038/s41408-019-0239-z. Blood Cancer J. 2019. PMID: 31575852 Free PMC article.
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ; Medical Genome Initiative. Marshall CR, et al. NPJ Genom Med. 2020 Oct 23;5:47. doi: 10.1038/s41525-020-00154-9. eCollection 2020. NPJ Genom Med. 2020. PMID: 33110627 Free PMC article. Review.
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
Shen W, Sellers HL, Choate LA, Stein MI, Tandale PP, Tan J, Setlem R, Sakai Y, Fadra N, Sosa C, McClelland SP, Barnett SS, Rasmussen KJ, Runke CK, Smoley SA, Tillmans LS, Marcou CA, Rowsey RA, Thorland EC, Boczek NJ, Kearney HM. Shen W, et al. Among authors: rowsey ra. J Mol Diagn. 2023 Jul;25(7):524-531. doi: 10.1016/j.jmoldx.2023.04.001. Epub 2023 Apr 23. J Mol Diagn. 2023. PMID: 37088140 Free article.
Uniparental disomy of multiple chromosomes in two cases with a complex phenotype.
Polonis K, Lopes JL, Cabral H, Babcock HE, Kline L, Ruiz KM, Schwartz S, Hasadsri L, Rowsey RA, Hoppman NL, Grant CL. Polonis K, et al. Among authors: rowsey ra. Am J Med Genet A. 2023 Jul;191(7):1978-1983. doi: 10.1002/ajmg.a.63224. Epub 2023 May 3. Am J Med Genet A. 2023. PMID: 37134191
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