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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A, Hansen TVO, Stoltze UK, Mehrjouy MM, Barnkob NM, Hjalgrim LL, Mathiasen R, Lautrup CK, Gregersen PA, Hasle H, Wehner PS, Tuckuviene R, Sackett PW, Laspiur AO, Rossing M, Marvig RL, Tommerup N, Olsen TE, Scheie D, Gupta R, Gerdes AM, Schmiegelow K, Wadt K. Byrjalsen A, et al. Among authors: gupta r. PLoS Genet. 2020 Dec 17;16(12):e1009231. doi: 10.1371/journal.pgen.1009231. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33332384 Free PMC article.
NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia.
Tulstrup M, Grosjean M, Nielsen SN, Grell K, Wolthers BO, Wegener PS, Jonsson OG, Lund B, Harila-Saari A, Abrahamsson J, Vaitkeviciene G, Pruunsild K, Toft N, Holm M, Hulegårdh E, Liestøl S, Griskevicius L, Punab M, Wang J, Carroll WL, Zhang Z, Dalgaard MD, Gupta R, Nersting J, Schmiegelow K. Tulstrup M, et al. Among authors: gupta r. Leukemia. 2018 Dec;32(12):2527-2535. doi: 10.1038/s41375-018-0245-3. Epub 2018 Sep 10. Leukemia. 2018. PMID: 30201983
Trypsin-encoding PRSS1-PRSS2 variations influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia: a Ponte di Legno toxicity working group report.
Wolthers BO, Frandsen TL, Patel CJ, Abaji R, Attarbaschi A, Barzilai S, Colombini A, Escherich G, Grosjean M, Krajinovic M, Larsen E, Liang DC, Möricke A, Rasmussen KK, Samarasinghe S, Silverman LB, van der Sluis IM, Stanulla M, Tulstrup M, Yadav R, Yang W, Zapotocka E, Gupta R, Schmiegelow K; Ponte di Legno toxicity working group. Wolthers BO, et al. Among authors: gupta r. Haematologica. 2019 Mar;104(3):556-563. doi: 10.3324/haematol.2018.199356. Epub 2018 Nov 22. Haematologica. 2019. PMID: 30467200 Free PMC article.
Genetic predisposition to PEG-asparaginase hypersensitivity in children treated according to NOPHO ALL2008.
Højfeldt SG, Wolthers BO, Tulstrup M, Abrahamsson J, Gupta R, Harila-Saari A, Heyman M, Henriksen LT, Jónsson ÒG, Lähteenmäki PM, Lund B, Pruunsild K, Vaitkeviciene G, Schmiegelow K, Albertsen BK; Nordic Society of Paediatric Haematology Oncology (NOPHO) group. Højfeldt SG, et al. Among authors: gupta r. Br J Haematol. 2019 Feb;184(3):405-417. doi: 10.1111/bjh.15660. Epub 2018 Nov 18. Br J Haematol. 2019. PMID: 30450575 Free article. Clinical Trial.
Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children.
Xu H, Zhang H, Yang W, Yadav R, Morrison AC, Qian M, Devidas M, Liu Y, Perez-Andreu V, Zhao X, Gastier-Foster JM, Lupo PJ, Neale G, Raetz E, Larsen E, Bowman WP, Carroll WL, Winick N, Williams R, Hansen T, Holm JC, Mardis E, Fulton R, Pui CH, Zhang J, Mullighan CG, Evans WE, Hunger SP, Gupta R, Schmiegelow K, Loh ML, Relling MV, Yang JJ. Xu H, et al. Among authors: gupta r. Nat Commun. 2015 Jun 24;6:7553. doi: 10.1038/ncomms8553. Nat Commun. 2015. PMID: 26104880 Free PMC article.
Effects of germline DHFR and FPGS variants on methotrexate metabolism and relapse of leukemia.
Tulstrup M, Moriyama T, Jiang C, Grosjean M, Nersting J, Abrahamsson J, Grell K, Hjalgrim LL, Jónsson ÓG, Kanerva J, Lund B, Nielsen SN, Nielsen RL, Overgaard U, Quist-Paulsen P, Pruunsild K, Vaitkeviciene G, Wolthers BO, Zhang H, Gupta R, Yang JJ, Schmiegelow K. Tulstrup M, et al. Among authors: gupta r. Blood. 2020 Sep 3;136(10):1161-1168. doi: 10.1182/blood.2020005064. Blood. 2020. PMID: 32391884 Free PMC article.
Archival bone marrow samples: suitable for multiple biomarker analysis.
Lund B, Najmi LA, Wesolowska-Andersen A, Landsem VM, Rasmussen KK, Borst L, Gupta R, Schmiegelow K, Klungland H. Lund B, et al. Among authors: gupta r. Appl Immunohistochem Mol Morphol. 2015 Jan;23(1):71-7. doi: 10.1097/PDM.0000000000000032. Appl Immunohistochem Mol Morphol. 2015. PMID: 25621358
Polygenic risk score-analysis of thromboembolism in patients with acute lymphoblastic leukemia.
Jarvis KB, Nielsen RL, Gupta R, Hede FD, Huttunen P, Jónsson ÓG, Rank CU, Ranta S, Saks K, Trakymiene SS, Tuckuviene R, Tulstrup M; INVENT consortium; Ruud E, Schmiegelow K, LeBlanc M. Jarvis KB, et al. Among authors: gupta r. Thromb Res. 2020 Dec;196:15-20. doi: 10.1016/j.thromres.2020.08.015. Epub 2020 Aug 12. Thromb Res. 2020. PMID: 32818716 Free article.
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