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Page 1
Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N. Gayden T, et al. Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. Nat Genet. 2018. PMID: 30374066
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.
Khuong-Quang DA, Buczkowicz P, Rakopoulos P, Liu XY, Fontebasso AM, Bouffet E, Bartels U, Albrecht S, Schwartzentruber J, Letourneau L, Bourgey M, Bourque G, Montpetit A, Bourret G, Lepage P, Fleming A, Lichter P, Kool M, von Deimling A, Sturm D, Korshunov A, Faury D, Jones DT, Majewski J, Pfister SM, Jabado N, Hawkins C. Khuong-Quang DA, et al. Acta Neuropathol. 2012 Sep;124(3):439-47. doi: 10.1007/s00401-012-0998-0. Epub 2012 Jun 3. Acta Neuropathol. 2012. PMID: 22661320 Free PMC article.
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.
Liu XY, Gerges N, Korshunov A, Sabha N, Khuong-Quang DA, Fontebasso AM, Fleming A, Hadjadj D, Schwartzentruber J, Majewski J, Dong Z, Siegel P, Albrecht S, Croul S, Jones DT, Kool M, Tonjes M, Reifenberger G, Faury D, Zadeh G, Pfister S, Jabado N. Liu XY, et al. Acta Neuropathol. 2012 Nov;124(5):615-25. doi: 10.1007/s00401-012-1031-3. Epub 2012 Aug 12. Acta Neuropathol. 2012. PMID: 22886134
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.
Fontebasso AM, Schwartzentruber J, Khuong-Quang DA, Liu XY, Sturm D, Korshunov A, Jones DT, Witt H, Kool M, Albrecht S, Fleming A, Hadjadj D, Busche S, Lepage P, Montpetit A, Staffa A, Gerges N, Zakrzewska M, Zakrzewski K, Liberski PP, Hauser P, Garami M, Klekner A, Bognar L, Zadeh G, Faury D, Pfister SM, Jabado N, Majewski J. Fontebasso AM, et al. Acta Neuropathol. 2013 May;125(5):659-69. doi: 10.1007/s00401-013-1095-8. Epub 2013 Feb 16. Acta Neuropathol. 2013. PMID: 23417712 Free PMC article.
Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.
Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N. Gayden T, et al. Nat Genet. 2019 Jan;51(1):196. doi: 10.1038/s41588-018-0304-8. Nat Genet. 2019. PMID: 30429576
Targeted therapy and disease monitoring in CNTRL-FGFR1-driven leukaemia.
Brown LM, Bartolo RC, Davidson NM, Schmidt B, Brooks I, Challis J, Petrovic V, Khuong-Quang DA, Mechinaud F, Khaw SL, Majewski IJ, Oshlack A, Ekert PG. Brown LM, et al. Pediatr Blood Cancer. 2019 Oct;66(10):e27897. doi: 10.1002/pbc.27897. Epub 2019 Jun 28. Pediatr Blood Cancer. 2019. PMID: 31250523
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer.
Wong M, Mayoh C, Lau LMS, Khuong-Quang DA, Pinese M, Kumar A, Barahona P, Wilkie EE, Sullivan P, Bowen-James R, Syed M, Martincorena I, Abascal F, Sherstyuk A, Bolanos NA, Baber J, Priestley P, Dolman MEM, Fleuren EDG, Gauthier ME, Mould EVA, Gayevskiy V, Gifford AJ, Grebert-Wade D, Strong PA, Manouvrier E, Warby M, Thomas DM, Kirk J, Tucker K, O'Brien T, Alvaro F, McCowage GB, Dalla-Pozza L, Gottardo NG, Tapp H, Wood P, Khaw SL, Hansford JR, Moore AS, Norris MD, Trahair TN, Lock RB, Tyrrell V, Haber M, Marshall GM, Ziegler DS, Ekert PG, Cowley MJ. Wong M, et al. Nat Med. 2020 Nov;26(11):1742-1753. doi: 10.1038/s41591-020-1072-4. Epub 2020 Oct 5. Nat Med. 2020. PMID: 33020650
Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors.
Khuong-Quang DA, Brown LM, Wong M, Mayoh C, Sexton-Oates A, Kumar A, Pinese M, Nagabushan S, Lau L, Ludlow LE, Gifford AJ, Rodriguez M, Desai J, Fox SB, Haber M, Ziegler DS, Hansford JR, Marshall GM, Cowley MJ, Ekert PG. Khuong-Quang DA, et al. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005710. doi: 10.1101/mcs.a005710. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33144287 Free PMC article.
30 results