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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: cottrell ce. 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: cottrell ce. 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: cottrell ce. 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.
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: cottrell ce. 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: cottrell ce. 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.
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: cottrell ce. 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.
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. Among authors: cottrell ce. Am J Surg Pathol. 2021 Mar 1;45(3):329-340. doi: 10.1097/PAS.0000000000001597. Am J Surg Pathol. 2021. PMID: 33074854
93 results