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Items: 1 to 20 of 71

1.

High sensitivity and clonal stability of the genomic fusion as single marker for response monitoring in ETV6-RUNX1-positive acute lymphoblastic leukemia.

Hoffmann J, Krumbholz M, Gutiérrez HP, Fillies M, Szymansky A, Bleckmann K, Zur Stadt U, Köhler R, Kuiper RP, Horstmann M, von Stackelberg A, Eckert C, Metzler M.

Pediatr Blood Cancer. 2019 Apr 29:e27780. doi: 10.1002/pbc.27780. [Epub ahead of print]

PMID:
31034759
2.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ.

Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28.

PMID:
30929739
3.

Outcomes of patients with childhood B-cell precursor acute lymphoblastic leukaemia with late bone marrow relapses: long-term follow-up of the ALLR3 open-label randomised trial.

Parker C, Krishnan S, Hamadeh L, Irving JAE, Kuiper RP, Révész T, Hoogerbrugge P, Hancock J, Sutton R, Moorman AV, Saha V.

Lancet Haematol. 2019 Apr;6(4):e204-e216. doi: 10.1016/S2352-3026(19)30003-1. Epub 2019 Feb 27.

4.

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP.

Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011.

PMID:
30753826
5.

TRIM28 haploinsufficiency predisposes to Wilms tumor.

Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, Hadjihannas M, Vasileiou G, Thiel CT, Seven D, Uebe S, Ilencikova D, Waanders E, Mavinkurve-Groothuis AMC, Roeleveld N, de Krijger RR, Wegert J, Graf N, Vokuhl C, Agaimy A, Gessler M, Reis A, Kuiper RP, Jongmans MCJ, Metzler M.

Int J Cancer. 2019 Jan 29. doi: 10.1002/ijc.32167. [Epub ahead of print]

PMID:
30694527
6.

Validation of the United Kingdom copy-number alteration classifier in 3239 children with B-cell precursor ALL.

Hamadeh L, Enshaei A, Schwab C, Alonso CN, Attarbaschi A, Barbany G, den Boer ML, Boer JM, Braun M, Dalla Pozza L, Elitzur S, Emerenciano M, Fechina L, Felice MS, Fronkova E, Haltrich I, Heyman MM, Horibe K, Imamura T, Jeison M, Kovács G, Kuiper RP, Mlynarski W, Nebral K, Ivanov Öfverholm I, Pastorczak A, Pieters R, Piko H, Pombo-de-Oliveira MS, Rubio P, Strehl S, Stary J, Sutton R, Trka J, Tsaur G, Venn N, Vora A, Yano M, Harrison CJ, Moorman AV; International BFM Study Group.

Blood Adv. 2019 Jan 22;3(2):148-157. doi: 10.1182/bloodadvances.2018025718.

7.

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.

Bomken S, van der Werff Ten Bosch J, Attarbaschi A, Bacon CM, Borkhardt A, Boztug K, Fischer U, Hauck F, Kuiper RP, Lammens T, Loeffen J, Neven B, Pan-Hammarström Q, Quinti I, Seidel MG, Warnatz K, Wehr C, Lankester AC, Gennery AR.

Front Immunol. 2018 Dec 12;9:2912. doi: 10.3389/fimmu.2018.02912. eCollection 2018. Review.

8.

Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia.

Jongmans MCJ, Diets IJ, Quarello P, Garelli E, Kuiper RP, Pfundt R.

Haematologica. 2018 Dec;103(12):e607-e609. doi: 10.3324/haematol.2018.200683. Epub 2018 Sep 13. No abstract available.

9.

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.

Diets IJ, Waanders E, Ligtenberg MJ, van Bladel DAG, Kamping EJ, Hoogerbrugge PM, Hopman S, Olderode-Berends MJ, Gerkes EH, Koolen DA, Marcelis C, Santen GW, van Belzen MJ, Mordaunt D, McGregor L, Thompson E, Kattamis A, Pastorczak A, Mlynarski W, Ilencikova D, van Silfhout AV, Gardeitchik T, de Bont ES, Loeffen J, Wagner A, Mensenkamp AR, Kuiper RP, Hoogerbrugge N, Jongmans MC.

Clin Cancer Res. 2018 Apr 1;24(7):1594-1603. doi: 10.1158/1078-0432.CCR-17-1725. Epub 2018 Jan 19.

10.

Intragenic amplification of PAX5: a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

Schwab C, Nebral K, Chilton L, Leschi C, Waanders E, Boer JM, Žaliová M, Sutton R, Öfverholm II, Ohki K, Yamashita Y, Groeneveld-Krentz S, Froňková E, Bakkus M, Tchinda J, Barbosa TDC, Fazio G, Mlynarski W, Pastorczak A, Cazzaniga G, Pombo-de-Oliveira MS, Trka J, Kirschner-Schwabe R, Imamura T, Barbany G, Stanulla M, Attarbaschi A, Panzer-Grümayer R, Kuiper RP, den Boer ML, Cavé H, Moorman AV, Harrison CJ, Strehl S.

Blood Adv. 2017 Aug 14;1(19):1473-1477. doi: 10.1182/bloodadvances.2017006734. eCollection 2017 Aug 22.

11.

NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?

Weren RD, Ligtenberg MJ, Geurts van Kessel A, De Voer RM, Hoogerbrugge N, Kuiper RP.

J Pathol. 2018 Feb;244(2):135-142. doi: 10.1002/path.5002. Epub 2017 Dec 14. Review.

PMID:
29105096
12.

Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing.

Yu J, Antić Ž, van Reijmersdal SV, Hoischen A, Sonneveld E, Waanders E, Kuiper RP.

Leuk Lymphoma. 2018 Jul;59(7):1690-1699. doi: 10.1080/10428194.2017.1390232. Epub 2017 Oct 23.

PMID:
29058513
13.

Use of CRISPR-modified human stem cell organoids to study the origin of mutational signatures in cancer.

Drost J, van Boxtel R, Blokzijl F, Mizutani T, Sasaki N, Sasselli V, de Ligt J, Behjati S, Grolleman JE, van Wezel T, Nik-Zainal S, Kuiper RP, Cuppen E, Clevers H.

Science. 2017 Oct 13;358(6360):234-238. doi: 10.1126/science.aao3130. Epub 2017 Sep 14.

14.

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N.

Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi: 10.1038/ejhg.2017.138. Epub 2017 Sep 6.

15.

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.

Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE.

Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710. Review.

16.

Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.

Achatz MI, Porter CC, Brugières L, Druker H, Frebourg T, Foulkes WD, Kratz CP, Kuiper RP, Hansford JR, Hernandez HS, Nathanson KL, Kohlmann WK, Doros L, Onel K, Schneider KW, Scollon SR, Tabori U, Tomlinson GE, Evans DGR, Plon SE.

Clin Cancer Res. 2017 Jul 1;23(13):e107-e114. doi: 10.1158/1078-0432.CCR-17-0790. Review.

17.

Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions.

Porter CC, Druley TE, Erez A, Kuiper RP, Onel K, Schiffman JD, Wolfe Schneider K, Scollon SR, Scott HS, Strong LC, Walsh MF, Nichols KE.

Clin Cancer Res. 2017 Jun 1;23(11):e14-e22. doi: 10.1158/1078-0432.CCR-17-0428. Review.

18.

A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.

Zhang J, Wang X, de Voer RM, Hehir-Kwa JY, Kamping EJ, Weren RDA, Nelen M, Hoischen A, Ligtenberg MJL, Hoogerbrugge N, Yang X, Yang Z, Fan X, Wang L, Liu H, Wang J, Kuiper RP, van Kessel AG.

Oncotarget. 2017 Apr 11;8(15):24533-24547. doi: 10.18632/oncotarget.15593.

19.

Antagonism of B cell enhancer networks by STAT5 drives leukemia and poor patient survival.

Katerndahl CDS, Heltemes-Harris LM, Willette MJL, Henzler CM, Frietze S, Yang R, Schjerven H, Silverstein KAT, Ramsey LB, Hubbard G, Wells AD, Kuiper RP, Scheijen B, van Leeuwen FN, Müschen M, Kornblau SM, Farrar MA.

Nat Immunol. 2017 Jun;18(6):694-704. doi: 10.1038/ni.3716. Epub 2017 Apr 3.

20.

IL-7 Receptor Mutations and Steroid Resistance in Pediatric T cell Acute Lymphoblastic Leukemia: A Genome Sequencing Study.

Li Y, Buijs-Gladdines JG, Canté-Barrett K, Stubbs AP, Vroegindeweij EM, Smits WK, van Marion R, Dinjens WN, Horstmann M, Kuiper RP, Buijsman RC, Zaman GJ, van der Spek PJ, Pieters R, Meijerink JP.

PLoS Med. 2016 Dec 20;13(12):e1002200. doi: 10.1371/journal.pmed.1002200. eCollection 2016 Dec.

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