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Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR, Lee K, Pfau RB, Reshmi SC, Corsmeier DJ, Hashimoto S, Dave-Wala A, Jayaraman V, Koboldt D, Matthews T, Mouhlas D, Stein M, McKinney A, Grossman T, Kelly BJ, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Miller CR, et al. Among authors: lee k. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005231. doi: 10.1101/mcs.a005231. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32371413 Free PMC article.
Somatic variation as an incidental finding in the pediatric next-generation sequencing era.
Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Melas M, et al. Among authors: lee k. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006135. doi: 10.1101/mcs.a006135. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34716204 Free PMC article.
Discovery of clinically relevant fusions in pediatric cancer.
LaHaye S, Fitch JR, Voytovich KJ, Herman AC, Kelly BJ, Lammi GE, Arbesfeld JA, Wijeratne S, Franklin SJ, Schieffer KM, Bir N, McGrath SD, Miller AR, Wetzel A, Miller KE, Bedrosian TA, Leraas K, Varga EA, Lee K, Gupta A, Setty B, Boué DR, Leonard JR, Finlay JL, Abdelbaki MS, Osorio DS, Koo SC, Koboldt DC, Wagner AH, Eisfeld AK, Mrózek K, Magrini V, Cottrell CE, Mardis ER, Wilson RK, White P. LaHaye S, et al. Among authors: lee k. BMC Genomics. 2021 Dec 4;22(1):872. doi: 10.1186/s12864-021-08094-z. BMC Genomics. 2021. PMID: 34863095 Free PMC article.
Expanding the clinical phenotype of FGFR1 internal tandem duplication.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez-Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Kautto EA, et al. Among authors: lee k. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006174. doi: 10.1101/mcs.a006174. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35149534 Free PMC article.
Detection of brain somatic variation in epilepsy-associated developmental lesions.
Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Bedrosian TA, et al. Among authors: lee k. Epilepsia. 2022 Aug;63(8):1981-1997. doi: 10.1111/epi.17323. Epub 2022 Jun 23. Epilepsia. 2022. PMID: 35687047
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. Mathew MT, et al. Among authors: lee k. J Mol Diagn. 2022 Sep;24(9):1031-1040. doi: 10.1016/j.jmoldx.2022.06.001. Epub 2022 Jun 16. J Mol Diagn. 2022. PMID: 35718094 Free 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: lee k. 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.
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