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Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity.
Wijeratne S, Gonzalez MEH, Roach K, Miller KE, Schieffer KM, Fitch JR, Leonard J, White P, Kelly BJ, Cottrell CE, Mardis ER, Wilson RK, Miller AR. Wijeratne S, et al. Among authors: schieffer km. BMC Genomics. 2024 Jan 29;25(1):122. doi: 10.1186/s12864-024-10021-x. BMC Genomics. 2024. PMID: 38287261 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: schieffer km. BMC Genomics. 2021 Dec 4;22(1):872. doi: 10.1186/s12864-021-08094-z. BMC Genomics. 2021. PMID: 34863095 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: schieffer km. 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.
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: schieffer km. Neurol Genet. 2020 Jun 17;6(4):e460. doi: 10.1212/NXG.0000000000000460. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32637635 Free PMC article.
Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.
Schieffer KM, Feldman AZ, Kautto EA, McGrath S, Miller AR, Hernandez-Gonzalez ME, LaHaye S, Miller KE, Koboldt DC, Brennan P, Kelly B, Wetzel A, Agarwal V, Shatara M, Conley S, Rodriguez DP, Abu-Arja R, Shaikhkhalil A, Snuderl M, Orr BA, Finlay JL, Osorio DS, Drapeau AI, Leonard JR, Pierson CR, White P, Magrini V, Mardis ER, Wilson RK, Cottrell CE, Boué DR. Schieffer KM, et al. Acta Neuropathol Commun. 2021 Apr 7;9(1):61. doi: 10.1186/s40478-021-01164-z. Acta Neuropathol Commun. 2021. PMID: 33827698 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: schieffer km. Epilepsia. 2022 Aug;63(8):1981-1997. doi: 10.1111/epi.17323. Epub 2022 Jun 23. Epilepsia. 2022. PMID: 35687047
Molecular Heterogeneity in Pediatric Malignant Rhabdoid Tumors in Patients With Multi-Organ Involvement.
Miller KE, Wheeler G, LaHaye S, Schieffer KM, Cearlock S, Venkata LPR, Bravo AO, Grischow OE, Kelly BJ, White P, Pierson CR, Boué DR, Koo SC, Klawinski D, Ranalli MA, Shaikhouni A, Salloum R, Shatara M, Leonard JR, Wilson RK, Cottrell CE, Mardis ER, Koboldt DC. Miller KE, et al. Among authors: schieffer km. Front Oncol. 2022 Jul 13;12:932337. doi: 10.3389/fonc.2022.932337. eCollection 2022. Front Oncol. 2022. PMID: 35912263 Free PMC article.
A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition.
Macke EL, Miller AR, Stonerock E, Olshefski R, Zajo K, Bedrosian TA, Mardis ER, Akkari YMN, Cottrell CE, Schieffer KM. Macke EL, et al. Among authors: schieffer km. Neurooncol Adv. 2023 Dec 10;6(1):vdad163. doi: 10.1093/noajnl/vdad163. eCollection 2024 Jan-Dec. Neurooncol Adv. 2023. PMID: 38213835 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. 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.
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: schieffer km. 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.
50 results