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484 results

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Page 1
Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma.
Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Miller KE, et al. Among authors: mardis er. Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002618. doi: 10.1101/mcs.a002618. Print 2018 Apr. Cold Spring Harb Mol Case Stud. 2018. PMID: 29434027 Free PMC article.
Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.
Schieffer KM, Varga E, Miller KE, Agarwal V, Koboldt DC, Brennan P, Kelly B, Dave-Wala A, Pierson CR, Finlay JL, AbdelBaki MS, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Schieffer KM, et al. Among authors: mardis er. Eur J Med Genet. 2019 Aug;62(8):103701. doi: 10.1016/j.ejmg.2019.103701. Epub 2019 Jun 10. Eur J Med Genet. 2019. PMID: 31195167 Free PMC article.
Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.
Darby CA, Fitch JR, Brennan PJ, Kelly BJ, Bir N, Magrini V, Leonard J, Cottrell CE, Gastier-Foster JM, Wilson RK, Mardis ER, White P, Langmead B, Schatz MC. Darby CA, et al. Among authors: mardis er. iScience. 2019 Aug 30;18:1-10. doi: 10.1016/j.isci.2019.05.037. Epub 2019 May 29. iScience. 2019. PMID: 31271967 Free PMC article.
Immunotherapeutic Challenges for Pediatric Cancers.
Hutzen B, Ghonime M, Lee J, Mardis ER, Wang R, Lee DA, Cairo MS, Roberts RD, Cripe TP, Cassady KA. Hutzen B, et al. Among authors: mardis er. Mol Ther Oncolytics. 2019 Aug 28;15:38-48. doi: 10.1016/j.omto.2019.08.005. eCollection 2019 Dec 20. Mol Ther Oncolytics. 2019. PMID: 31650024 Free PMC article. Review.
De novo primary central nervous system pure erythroid leukemia/sarcoma with t(1;16)(p31;q24) NFIA/CBFA2T3 translocation.
Liu H, Guinipero TL, Schieffer KM, Carter C, Colace S, Leonard JR, Orr BA, Kahwash SB, Brennan PJ, Fitch JR, Kelly B, Magrini VJ, White P, Wilson RK, Mardis ER, Cottrell CE, Boué DR. Liu H, et al. Among authors: mardis er. Haematologica. 2020 Apr;105(4):e194-e197. doi: 10.3324/haematol.2019.231928. Epub 2020 Jan 16. Haematologica. 2020. PMID: 31949013 Free PMC article. No abstract available.
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: mardis er. 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 SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue.
Miller KE, Koboldt DC, Schieffer KM, Bedrosian TA, Crist E, Sheline A, Leraas K, Magrini V, Zhong H, Brennan P, Bush J, Fitch J, Bir N, Miller AR, Cottrell CE, Leonard J, Pindrik JA, Rusin JA, Shah SH, White P, Wilson RK, Mardis ER, Pierson CR, Ostendorf AP. Miller KE, et al. Among authors: mardis er. Neurol Genet. 2020 Jun 17;6(4):e460. doi: 10.1212/NXG.0000000000000460. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32637635 Free PMC article.
Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing.
Avenarius MR, Miller CR, Arnold MA, Koo S, Roberts R, Hobby M, Grossman T, Moyer Y, Wilson RK, Mardis ER, Gastier-Foster JM, Pfau RB. Avenarius MR, et al. Among authors: mardis er. J Mol Diagn. 2020 Oct;22(10):1238-1245. doi: 10.1016/j.jmoldx.2020.07.004. Epub 2020 Aug 1. J Mol Diagn. 2020. PMID: 32745614 Free PMC article.
Infantile fibrosarcoma-like tumor driven by novel RBPMS-MET fusion consolidated with cabozantinib.
Gupta A, Belsky JA, Schieffer KM, Leraas K, Varga E, McGrath SD, Koo SC, Magrini V, Wilson RK, White P, Mardis ER, Jatana KR, Cottrell CE, Setty BA. Gupta A, et al. Among authors: mardis er. Cold Spring Harb Mol Case Stud. 2020 Oct 7;6(5):a005645. doi: 10.1101/mcs.a005645. Print 2020 Oct. Cold Spring Harb Mol Case Stud. 2020. PMID: 33028644 Free PMC article.
484 results