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Page 1
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
Kansal R, Li X, Shen J, Samuel D, Laningham F, Lee H, Panigrahi GB, Shuen A, Kantarci S, Dorrani N, Reiss J, Shintaku P, Deignan JL, Strom SP, Pearson CE, Vilain E, Grody WW. Kansal R, et al. Among authors: samuel d. Genes Chromosomes Cancer. 2016 Feb;55(2):131-42. doi: 10.1002/gcc.22319. Epub 2015 Nov 6. Genes Chromosomes Cancer. 2016. PMID: 26542077
Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
Shuen AY, Lanni S, Panigrahi GB, Edwards M, Yu L, Campbell BB, Mandel A, Zhang C, Zhukova N, Alharbi M, Bernstein M, Bowers DC, Carroll S, Cole KA, Constantini S, Crooks B, Dvir R, Farah R, Hijiya N, George B, Laetsch TW, Larouche V, Lindhorst S, Luiten RC, Magimairajan V, Mason G, Mason W, Mordechai O, Mushtaq N, Nicholas G, Oren M, Palma L, Pedroza LA, Ramdas J, Samuel D, Wolfe Schneider K, Seeley A, Semotiuk K, Shamvil A, Sumerauer D, Toledano H, Tomboc P, Wierman M, Van Damme A, Lee YY, Zapotocky M, Bouffet E, Durno C, Aronson M, Gallinger S, Foulkes WD, Malkin D, Tabori U, Pearson CE. Shuen AY, et al. Among authors: samuel d. J Clin Oncol. 2019 Feb 20;37(6):461-470. doi: 10.1200/JCO.18.00474. Epub 2019 Jan 4. J Clin Oncol. 2019. PMID: 30608896
Comprehensive Analysis of Hypermutation in Human Cancer.
Campbell BB, Light N, Fabrizio D, Zatzman M, Fuligni F, de Borja R, Davidson S, Edwards M, Elvin JA, Hodel KP, Zahurancik WJ, Suo Z, Lipman T, Wimmer K, Kratz CP, Bowers DC, Laetsch TW, Dunn GP, Johanns TM, Grimmer MR, Smirnov IV, Larouche V, Samuel D, Bronsema A, Osborn M, Stearns D, Raman P, Cole KA, Storm PB, Yalon M, Opocher E, Mason G, Thomas GA, Sabel M, George B, Ziegler DS, Lindhorst S, Issai VM, Constantini S, Toledano H, Elhasid R, Farah R, Dvir R, Dirks P, Huang A, Galati MA, Chung J, Ramaswamy V, Irwin MS, Aronson M, Durno C, Taylor MD, Rechavi G, Maris JM, Bouffet E, Hawkins C, Costello JF, Meyn MS, Pursell ZF, Malkin D, Tabori U, Shlien A. Campbell BB, et al. Among authors: samuel d. Cell. 2017 Nov 16;171(5):1042-1056.e10. doi: 10.1016/j.cell.2017.09.048. Epub 2017 Oct 19. Cell. 2017. PMID: 29056344 Free PMC article.
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
Waszak SM, Northcott PA, Buchhalter I, Robinson GW, Sutter C, Groebner S, Grund KB, Brugières L, Jones DTW, Pajtler KW, Morrissy AS, Kool M, Sturm D, Chavez L, Ernst A, Brabetz S, Hain M, Zichner T, Segura-Wang M, Weischenfeldt J, Rausch T, Mardin BR, Zhou X, Baciu C, Lawerenz C, Chan JA, Varlet P, Guerrini-Rousseau L, Fults DW, Grajkowska W, Hauser P, Jabado N, Ra YS, Zitterbart K, Shringarpure SS, De La Vega FM, Bustamante CD, Ng HK, Perry A, MacDonald TJ, Hernáiz Driever P, Bendel AE, Bowers DC, McCowage G, Chintagumpala MM, Cohn R, Hassall T, Fleischhack G, Eggen T, Wesenberg F, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Kjaerheim K, Monoranu CM, Archer TC, Duke E, Pomeroy SL, Shelagh R, Frank S, Sumerauer D, Scheurlen W, Ryzhova MV, Milde T, Kratz CP, Samuel D, Zhang J, Solomon DA, Marra M, Eils R, Bartram CR, von Hoff K, Rutkowski S, Ramaswamy V, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Malkin D, Gajjar A, Korbel JO, Pfister SM. Waszak SM, et al. Among authors: samuel d. Lancet Oncol. 2018 Jun;19(6):785-798. doi: 10.1016/S1470-2045(18)30242-0. Epub 2018 May 9. Lancet Oncol. 2018. PMID: 29753700 Free PMC article.
Recurrent non-canonical histone H3 mutations in spinal cord diffuse gliomas.
Sloan EA, Cooney T, Oberheim Bush NA, Buerki R, Taylor J, Clarke JL, Torkildson J, Kline C, Reddy A, Mueller S, Banerjee A, Butowski N, Chang S, Mummaneni PV, Chou D, Tan L, Theodosopoulos P, McDermott M, Berger M, Raffel C, Gupta N, Sun PP, Li Y, Shah V, Cha S, Braunstein S, Raleigh DR, Samuel D, Scharnhorst D, Fata C, Guo H, Moes G, Kim JYH, Koschmann C, Van Ziffle J, Onodera C, Devine P, Grenert JP, Lee JC, Pekmezci M, Phillips JJ, Tihan T, Bollen AW, Perry A, Solomon DA. Sloan EA, et al. Among authors: samuel d. Acta Neuropathol. 2019 Nov;138(5):877-881. doi: 10.1007/s00401-019-02072-2. Epub 2019 Sep 12. Acta Neuropathol. 2019. PMID: 31515627 Free PMC article. No abstract available.
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.
Durno C, Ercan AB, Bianchi V, Edwards M, Aronson M, Galati M, Atenafu EG, Abebe-Campino G, Al-Battashi A, Alharbi M, Azad VF, Baris HN, Basel D, Bedgood R, Bendel A, Ben-Shachar S, Blumenthal DT, Blundell M, Bornhorst M, Bronsema A, Cairney E, Rhode S, Caspi S, Chamdin A, Chiaravalli S, Constantini S, Crooks B, Das A, Dvir R, Farah R, Foulkes WD, Frenkel Z, Gallinger B, Gardner S, Gass D, Ghalibafian M, Gilpin C, Goldberg Y, Goudie C, Hamid SA, Hampel H, Hansford JR, Harlos C, Hijiya N, Hsu S, Kamihara J, Kebudi R, Knipstein J, Koschmann C, Kratz C, Larouche V, Lassaletta A, Lindhorst S, Ling SC, Link MP, Loret De Mola R, Luiten R, Lurye M, Maciaszek JL, MagimairajanIssai V, Maher OM, Massimino M, McGee RB, Mushtaq N, Mason G, Newmark M, Nicholas G, Nichols KE, Nicolaides T, Opocher E, Osborn M, Oshrine B, Pearlman R, Pettee D, Rapp J, Rashid M, Reddy A, Reichman L, Remke M, Robbins G, Roy S, Sabel M, Samuel D, Scheers I, Schneider KW, Sen S, Stearns D, Sumerauer D, Swallow C, Taylor L, Thomas G, Toledano H, Tomboc P, Van Damme A, Winer I, Yalon M, Yen LY, Zapotocky M, Zelcer S, Ziegler DS, Zimmermann S, Hawkins C, Malkin D, Bouffet E, Villani A, Tabori U. Durno C, et al. Among authors: samuel d. J Clin Oncol. 2021 Sep 1;39(25):2779-2790. doi: 10.1200/JCO.20.02636. Epub 2021 May 4. J Clin Oncol. 2021. PMID: 33945292 Free PMC article.
Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy.
Kline CN, Joseph NM, Grenert JP, van Ziffle J, Talevich E, Onodera C, Aboian M, Cha S, Raleigh DR, Braunstein S, Torkildson J, Samuel D, Bloomer M, Campomanes AGA, Banerjee A, Butowski N, Raffel C, Tihan T, Bollen AW, Phillips JJ, Korn WM, Yeh I, Bastian BC, Gupta N, Mueller S, Perry A, Nicolaides T, Solomon DA. Kline CN, et al. Among authors: samuel d. Neuro Oncol. 2017 May 1;19(5):699-709. doi: 10.1093/neuonc/now254. Neuro Oncol. 2017. PMID: 28453743 Free PMC article.
High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis.
Ferris SP, Velazquez Vega J, Aboian M, Lee JC, Van Ziffle J, Onodera C, Grenert JP, Saunders T, Chen YY, Banerjee A, Kline CN, Gupta N, Raffel C, Samuel D, Ruiz-Diaz I, Magaki S, Wilson D, Neltner J, Al-Hajri Z, Phillips JJ, Pekmezci M, Bollen AW, Tihan T, Schniederjan M, Cha S, Perry A, Solomon DA. Ferris SP, et al. Among authors: samuel d. Brain Pathol. 2020 Jan;30(1):46-62. doi: 10.1111/bpa.12747. Epub 2019 Jun 10. Brain Pathol. 2020. PMID: 31104347 Free PMC article.
Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor.
Lucas CG, Gupta R, Doo P, Lee JC, Cadwell CR, Ramani B, Hofmann JW, Sloan EA, Kleinschmidt-DeMasters BK, Lee HS, Wood MD, Grafe M, Born D, Vogel H, Salamat S, Puccetti D, Scharnhorst D, Samuel D, Cooney T, Cham E, Jin LW, Khatib Z, Maher O, Chamyan G, Brathwaite C, Bannykh S, Mueller S, Kline CN, Banerjee A, Reddy A, Taylor JW, Clarke JL, Oberheim Bush NA, Butowski N, Gupta N, Auguste KI, Sun PP, Roland JL, Raffel C, Aghi MK, Theodosopoulos P, Chang E, Hervey-Jumper S, Phillips JJ, Pekmezci M, Bollen AW, Tihan T, Chang S, Berger MS, Perry A, Solomon DA. Lucas CG, et al. Among authors: samuel d. Acta Neuropathol Commun. 2020 Aug 28;8(1):151. doi: 10.1186/s40478-020-01027-z. Acta Neuropathol Commun. 2020. PMID: 32859279 Free PMC article.
Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset.
Chung J, Negm L, Bianchi V, Stengs L, Das A, Liu ZA, Sudhaman S, Aronson M, Brunga L, Edwards M, Forster V, Komosa M, Davidson S, Lees J, Tomboc P, Samuel D, Farah R, Bendel A, Knipstein J, Schneider KW, Reschke A, Zelcer S, Zorzi A, McWilliams R, Foulkes WD, Bedgood R, Peterson L, Rhode S, Van Damme A, Scheers I, Gardner S, Robbins G, Vanan MI, Meyn MS, Auer R, Leach B, Burke C, Villani A, Malkin D, Bouffet E, Huang A, Taylor MD, Durno C, Shlien A, Hawkins C, Getz G, Maruvka YE, Tabori U; International Replication Repair Deficiency Consortium. Chung J, et al. Among authors: samuel d. J Clin Oncol. 2023 Feb 1;41(4):766-777. doi: 10.1200/JCO.21.02873. Epub 2022 Oct 14. J Clin Oncol. 2023. PMID: 36240479 Free PMC article.
1,259 results