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Page 1
Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency.
Lindsay H, Scollon S, Reuther J, Voicu H, Rednam SP, Lin FY, Fisher KE, Chintagumpala M, Adesina AM, Parsons DW, Plon SE, Roy A. Lindsay H, et al. Among authors: parsons dw. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004499. doi: 10.1101/mcs.a004499. Print 2019 Oct. Cold Spring Harb Mol Case Stud. 2019. PMID: 31624068 Free PMC article.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Green RC, et al. Among authors: parsons dw. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181682 Free PMC article.
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Ritter DI, Roychowdhury S, Roy A, Rao S, Landrum MJ, Sonkin D, Shekar M, Davis CF, Hart RK, Micheel C, Weaver M, Van Allen EM, Parsons DW, McLeod HL, Watson MS, Plon SE, Kulkarni S, Madhavan S; ClinGen Somatic Cancer Working Group. Ritter DI, et al. Among authors: parsons dw. Genome Med. 2016 Nov 4;8(1):117. doi: 10.1186/s13073-016-0367-z. Genome Med. 2016. PMID: 27814769 Free PMC article.
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL; Deciphering Developmental Disorders Study; Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y. Stankiewicz P, et al. Among authors: parsons dw. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942966 Free PMC article.
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA; CSER consortium; Plon SE, Jarvik GP. Amendola LM, et al. Among authors: parsons dw. Am J Hum Genet. 2018 Sep 6;103(3):319-327. doi: 10.1016/j.ajhg.2018.08.007. Am J Hum Genet. 2018. PMID: 30193136 Free PMC article.
Phase II study of peginterferon alpha-2b for patients with unresectable or recurrent craniopharyngiomas: a Pediatric Brain Tumor Consortium report.
Goldman S, Pollack IF, Jakacki RI, Billups CA, Poussaint TY, Adesina AM, Panigrahy A, Parsons DW, Broniscer A, Robinson GW, Robison NJ, Partap S, Kilburn LB, Onar-Thomas A, Dunkel IJ, Fouladi M. Goldman S, et al. Among authors: parsons dw. Neuro Oncol. 2020 Nov 26;22(11):1696-1704. doi: 10.1093/neuonc/noaa119. Neuro Oncol. 2020. PMID: 32393959 Free PMC article. Clinical Trial.
ZFTA-RELA Dictates Oncogenic Transcriptional Programs to Drive Aggressive Supratentorial Ependymoma.
Arabzade A, Zhao Y, Varadharajan S, Chen HC, Jessa S, Rivas B, Stuckert AJ, Solis M, Kardian A, Tlais D, Golbourn BJ, Stanton AJ, Chan YS, Olson C, Karlin KL, Kong K, Kupp R, Hu B, Injac SG, Ngo M, Wang PR, De León LA, Sahm F, Kawauchi D, Pfister SM, Lin CY, Hodges HC, Singh I, Westbrook TF, Chintagumpala MM, Blaney SM, Parsons DW, Pajtler KW, Agnihotri S, Gilbertson RJ, Yi J, Jabado N, Kleinman CL, Bertrand KC, Deneen B, Mack SC. Arabzade A, et al. Among authors: parsons dw. Cancer Discov. 2021 Sep;11(9):2200-2215. doi: 10.1158/2159-8290.CD-20-1066. Epub 2021 Mar 19. Cancer Discov. 2021. PMID: 33741710 Free PMC article.
Epigenetic Alterations of Repeated Relapses in Patient-matched Childhood Ependymomas.
Zhao S, Li J, Zhang H, Qi L, Du Y, Kogiso M, Braun FK, Xiao S, Huang Y, Li J, Teo WY, Lindsay H, Baxter P, Su JMF, Adesina A, Laczik M, Genevini P, Veillard AC, Schvartzman S, Berguet G, Ding SR, Du L, Stephan C, Yang J, Davies PJA, Lu X, Chintagumpala M, Parsons DW, Perlaky L, Xia YF, Man TK, Huang Y, Sun D, Li XN. Zhao S, et al. Among authors: parsons dw. Nat Commun. 2022 Nov 5;13(1):6689. doi: 10.1038/s41467-022-34514-z. Nat Commun. 2022. PMID: 36335125 Free PMC article.
197 results