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Page 1
Comprehensive Genomic Characterization of Congenital and Infantile Cancers Reveals High Yield of Medically Meaningful Findings.
Mathew MT, Potter SL, Schieffer KM, O'Donovan J, Garfinkle EAR, Paxton SA, Setty B, Lazow MA, Boue' DR, Varga E, Miller K, Wheeler G, Kelly B, White P, Wilson RK, Mardis ER, Cottrell CE. Mathew MT, et al. Among authors: schieffer km. JCO Precis Oncol. 2025 Jun;9:e2400910. doi: 10.1200/PO-24-00910. Epub 2025 Jun 6. JCO Precis Oncol. 2025. PMID: 40479623
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.
Germline susceptibility from broad genomic profiling of pediatric brain cancers.
Mardis ER, Potter SL, Schieffer KM, Varga EA, Mathew MT, Costello HM, Wheeler G, Kelly BJ, Miller KE, Garfinkle EAR, Wilson RK, Cottrell CE. Mardis ER, et al. Among authors: schieffer km. Neurooncol Adv. 2024 Jun 15;6(1):vdae099. doi: 10.1093/noajnl/vdae099. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 39036440 Free PMC article. Review.
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.
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.
Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence.
Koo SC, LaHaye S, Kovari BP, Schieffer KM, Ranalli MA, Aldrink JH, Michalsky MP, Colace S, Miller KE, Bedrosian TA, Leraas KM, Voytovich K, Wheeler G, Brennan P, Fitch J, Kelly BJ, McGrath SD, Miller AR, White P, Magrini V, Wilson RK, Mardis ER, Lauwers GY, Baker PB, Cottrell CE. Koo SC, et al. Among authors: schieffer km. Genes Chromosomes Cancer. 2021 Sep;60(9):640-646. doi: 10.1002/gcc.22973. Epub 2021 Jun 7. Genes Chromosomes Cancer. 2021. PMID: 34041825
57 results