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Page 1
Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Donker Kaat L, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: van der tuin k, van ierland y, van doorn r, van haeringen a, van rij m, van der werf t lam as, van de putte df. Genet Med. 2019 May;21(5):1074-1082. doi: 10.1038/s41436-018-0293-0. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287924 Free article.
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
Law MH, Bishop DT, Lee JE, Brossard M, Martin NG, Moses EK, Song F, Barrett JH, Kumar R, Easton DF, Pharoah PDP, Swerdlow AJ, Kypreou KP, Taylor JC, Harland M, Randerson-Moor J, Akslen LA, Andresen PA, Avril MF, Azizi E, Scarrà GB, Brown KM, Dębniak T, Duffy DL, Elder DE, Fang S, Friedman E, Galan P, Ghiorzo P, Gillanders EM, Goldstein AM, Gruis NA, Hansson J, Helsing P, Hočevar M, Höiom V, Ingvar C, Kanetsky PA, Chen WV; GenoMEL Consortium; Essen-Heidelberg Investigators; SDH Study Group; Q-MEGA and QTWIN Investigators; AMFS Investigators; ATHENS Melanoma Study Group; Landi MT, Lang J, Lathrop GM, Lubiński J, Mackie RM, Mann GJ, Molven A, Montgomery GW, Novaković S, Olsson H, Puig S, Puig-Butille JA, Qureshi AA, Radford-Smith GL, van der Stoep N, van Doorn R, Whiteman DC, Craig JE, Schadendorf D, Simms LA, Burdon KP, Nyholt DR, Pooley KA, Orr N, Stratigos AJ, Cust AE, Ward SV, Hayward NK, Han J, Schulze HJ, Dunning AM, Bishop JAN, Demenais F, Amos CI, MacGregor S, Iles MM. Law MH, et al. Among authors: van doorn r, van der stoep n. Nat Genet. 2015 Sep;47(9):987-995. doi: 10.1038/ng.3373. Epub 2015 Aug 3. Nat Genet. 2015. PMID: 26237428 Free PMC article.
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe.
Potjer TP, Helgadottir H, Leenheer M, van der Stoep N, Gruis NA, Höiom V, Olsson H, van Doorn R, Vasen HFA, van Asperen CJ, Dekkers OM, Hes FJ; Dutch Working Group for Clinical Oncogenetics. Potjer TP, et al. Among authors: van asperen cj, van doorn r, van der stoep n. J Med Genet. 2018 Oct;55(10):661-668. doi: 10.1136/jmedgenet-2017-105205. Epub 2018 Apr 16. J Med Genet. 2018. PMID: 29661971 Free article.
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP, Bollen S, Grimbergen AJEM, van Doorn R, Gruis NA, van Asperen CJ, Hes FJ, van der Stoep N; Dutch Working Group for Clinical Oncogenetics. Potjer TP, et al. Among authors: van asperen cj, van doorn r, van der stoep n. Int J Cancer. 2019 May 15;144(10):2453-2464. doi: 10.1002/ijc.31984. Epub 2019 Jan 21. Int J Cancer. 2019. PMID: 30414346 Free PMC article.
Correction: Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Kaat LD, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: van der tuin k, van ierland y, van doorn r, van haeringen a, van rij m, van der werf t lam as, van de putte df. Genet Med. 2019 Sep;21(9):2159-2164. doi: 10.1038/s41436-018-0363-3. Genet Med. 2019. PMID: 30464259 Free article.
Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers.
Christodoulou E, Visser M, Potjer TP, van der Stoep N, Rodríguez-Girondo M, van Doorn R, Gruis N. Christodoulou E, et al. Among authors: van doorn r, van der stoep n. Fam Cancer. 2019 Oct;18(4):439-444. doi: 10.1007/s10689-019-00137-5. Fam Cancer. 2019. PMID: 31203567 Free PMC article.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Chau C, van Doorn R, van Poppelen NM, van der Stoep N, Mensenkamp AR, Sijmons RH, van Paassen BW, van den Ouweland AMW, Naus NC, van der Hout AH, Potjer TP, Bleeker FE, Wevers MR, van Hest LP, Jongmans MCJ, Marinkovic M, Bleeker JC, Jager MJ, Luyten GPM, Nielsen M. Chau C, et al. Among authors: van paassen bw, van der hout ah, van doorn r, van den ouweland amw, van poppelen nm, van der stoep n, van hest lp. Cancers (Basel). 2019 Aug 4;11(8):1114. doi: 10.3390/cancers11081114. Cancers (Basel). 2019. PMID: 31382694 Free PMC article.
NEK11 as a candidate high-penetrance melanoma susceptibility gene.
Christodoulou E, van Doorn R, Visser M, Teunisse A, Versluis M, van der Velden P, Hayward NK, Jochemsen A, Gruis N. Christodoulou E, et al. Among authors: van doorn r, van der velden p. J Med Genet. 2020 Mar;57(3):203-210. doi: 10.1136/jmedgenet-2019-106134. Epub 2019 Nov 8. J Med Genet. 2020. PMID: 31704778
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Gravesteijn G, Hack RJ, Mulder AA, Cerfontaine MN, van Doorn R, Hegeman IM, Jost CR, Rutten JW, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: van doorn r. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12751. doi: 10.1111/nan.12751. Epub 2021 Jul 30. Neuropathol Appl Neurobiol. 2022. PMID: 34297860 Free PMC article.
268 results