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105 results

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Page 1
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: pierson cr. Brain. 2021 Nov 29;144(10):2971-2978. doi: 10.1093/brain/awab173. Brain. 2021. PMID: 34048549 Free PMC article.
SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature.
Mangum R, Varga E, Boué DR, Capper D, Benesch M, Leonard J, Osorio DS, Pierson CR, Zumberge N, Sahm F, Schrimpf D, Pfister SM, Finlay JL. Mangum R, et al. Among authors: pierson cr. Childs Nerv Syst. 2016 Dec;32(12):2439-2446. doi: 10.1007/s00381-016-3185-0. Epub 2016 Jul 21. Childs Nerv Syst. 2016. PMID: 27444290 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. Among authors: pierson cr. 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: pierson cr. J Neuropathol Exp Neurol. 2019 Dec 1;78(12):1089-1099. doi: 10.1093/jnen/nlz093. J Neuropathol Exp Neurol. 2019. PMID: 31626289
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: pierson cr. 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. Among authors: pierson cr. 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.
Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas.
Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Shatara M, et al. Among authors: pierson cr. Acta Neuropathol Commun. 2021 Dec 11;9(1):192. doi: 10.1186/s40478-021-01296-2. Acta Neuropathol Commun. 2021. PMID: 34895332 Free PMC article.
105 results