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693 results

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Page 1
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. Among authors: mcgrath s. 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: mcgrath sd. Genes Chromosomes Cancer. 2021 Sep;60(9):640-646. doi: 10.1002/gcc.22973. Epub 2021 Jun 7. Genes Chromosomes Cancer. 2021. PMID: 34041825
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: mcgrath s. Genes Chromosomes Cancer. 2021 Aug;60(8):577-585. doi: 10.1002/gcc.22953. Epub 2021 Apr 29. Genes Chromosomes Cancer. 2021. PMID: 33893698
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Melas M, et al. Hum Mutat. 2022 Feb;43(2):189-199. doi: 10.1002/humu.24304. Epub 2021 Dec 16. Hum Mutat. 2022. PMID: 34859533
Expanding the clinical phenotype of FGFR1 internal tandem duplication.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez-Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Kautto EA, et al. Among authors: mcgrath s. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006174. doi: 10.1101/mcs.a006174. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35149534 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: mcgrath s. Epilepsia. 2022 Aug;63(8):1981-1997. doi: 10.1111/epi.17323. Epub 2022 Jun 23. Epilepsia. 2022. PMID: 35687047
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: mcgrath sd. 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: mcgrath sd. 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.
PTEN somatic mutations contribute to spectrum of cerebral overgrowth.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. Koboldt DC, et al. Among authors: mcgrath s. Brain. 2021 Nov 29;144(10):2971-2978. doi: 10.1093/brain/awab173. Brain. 2021. PMID: 34048549 Free PMC article.
693 results