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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.
GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.
Richardson TE, Tang K, Vasudevaraja V, Serrano J, William CM, Mirchia K, Pierson CR, Leonard JR, AbdelBaki MS, Schieffer KM, Cottrell CE, Tovar-Spinoza Z, Comito MA, Boué DR, Jour G, Snuderl M. Richardson TE, et al. Among authors: schieffer km. J Neuropathol Exp Neurol. 2019 Dec 1;78(12):1089-1099. doi: 10.1093/jnen/nlz093. J Neuropathol Exp Neurol. 2019. PMID: 31626289
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.
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.
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: schieffer km. 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.
YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas.
Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. Schieffer KM, et al. Am J Surg Pathol. 2021 Mar 1;45(3):329-340. doi: 10.1097/PAS.0000000000001597. Am J Surg Pathol. 2021. PMID: 33074854
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.
Novel morphologic findings in PLAG1-rearranged soft tissue tumors.
Logan SJ, Schieffer KM, Conces MR, Stonerock E, Miller AR, Fitch J, LaHaye S, Voytovich K, McGrath S, Magrini V, White P, Wilson RK, Mardis ER, Cottrell CE, Koo SC. Logan SJ, et al. Among authors: schieffer km. Genes Chromosomes Cancer. 2021 Aug;60(8):577-585. doi: 10.1002/gcc.22953. Epub 2021 Apr 29. Genes Chromosomes Cancer. 2021. PMID: 33893698
50 results