Nienke van der Stoep
- Naam
- Dr. N. van der Stoep
- Telefoon
- +31 71 526 9832
- n.van_der_stoep@lumc.nl
- Faculteit Geneeskunde
- Divisie 4
- Humane Genetica
- Tüchler, A.; Pauw, A. de; Ernst, C.; Anota, A.; Lakeman, I.M.M.; Dick, J.; Stoep, N. van der; Asperen, C.J. van; Maringa, M.; Herold, N.; Blümcke, B.; Remy, R.; Westerhoff, A.; Stommel-Jenner, D.J.; Frouin, E.; Richters, L.; Golmard, L.; Kütting, N.; Colas, C.; Wappenschmidt, B.; Rhiem, K.; Devilee, P.; Stoppa-Lyonnet, D.; Schmutzler, R.K. & Hahnen, E. (2024), Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction, The Breast 73.
- Lemmers, R.J.L.F.; Butterfield, R.; Vliet, P.J. van der; Bleecker, J.L. de; Pol, L. van der; Dunn, D.M.; Erasmus, C.E.; D'Hooghe, M.; Verhoeven, K.; Balog, J.; Bigot, A.; Engelen, B. van; Statland, J.; Bugiardini, E.; Stoep, N. van der; Evangelista, T.; Marini-Bettolo, C.; Bergh, P. van den; Tawil, R.; Voermans, N.C.; Vissing, J.; Weiss, R.B. & Maarel, S.M. van der (2023), Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy, Brain.
- Potjer, T.P.; Grinten, T.W.J. van der; Lakeman, I.M.M.; Bollen, S.H.; Rodriguez-Girondo, M.; Iles, M.M.; Barrett, J.H.; Kiemeney, L.A.; Gruis, N.A.; Asperen, C.J. van & Stoep, N. van der (2020), Association between a 46-SNP polygenic risk score and melanoma risk in Dutch patients with familial melanoma, Journal of Medical Genetics 2021(58).
- Dijkstra, J.N.; Goselink, R.J.M.; Alfen, N. van; Groot, I.J.M. de; Pelsma, M.; Stoep, N. van der; Theelen, T.; Engelen, B.G.M. van; Voermans, N.C. & Erasmus, C.E. (2021), Natural history of facioscapulohumeral dystrophy in children, Neurology 97(21): E2103-E2113.
- Potjer, T.P.; Grinten, T.W.J. van der; Lakeman, I.M.M.; Bollen, S.H.; Rodriguez-Girondo, M.; Iles, M.M.; Barrett, J.H.; Kiemeney, L.A.; Gruis, N.A.; Asperen, C.J. van & Stoep, N. van der (2021), Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma, Journal of Medical Genetics 58(11): 760-766.
- Lemmers, R.J.L.F.; Vliet, P.J. van der; Granado, D.S.; Stoep, N. van der; Buermans, H.; Schendel, R. van; Schimmel, J.; Visser, M. de; Coster, R. van; Jeanpierre, M.; Laforet, P.; Upadhyaya, M.; Engelen, B. van; Sacconi, S.; Tawil, R.; Voermans, N.C.; Rogers, M. & Maarel, S.M. van der (2022), High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect, Human Molecular Genetics 31(5): 748-760.
- Vincenten, S.C.C.; Stoep, N. van der; Paulussen, A.D.C.; Mul, K.; Badrising, U.A.; Kriek, M.; Heijden, O.W.H. van der; Engelen, B.G.M. van; Voermans, N.C.; Die-Smulders, C.E.M. de & Lassche, S. (2022), Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease, Clinical Genetics 101(2): 149-160.
- Vincenten, S.C.C.; Stoep, N. van der; Paulussen, A.D.C.; Mul, K.; Badrising, U.A.; Kriek, M.; Heijden, O.W.H. van der; Engelen, B.G.M. van; Voermans, N.C.; Die-Smulders, C.E.M. de & Lassche, S. (2021), Facioscapulohumeral muscular dystrophy, Clinical Genetics 101(2).
- Overbeek, K.A.; Rodriguez-Girondo, M.D.M.; Wagner, A.; Stoep, N. van der; Akker, P.C. van den; Oosterwijk, J.C.; Os, T.A. van; Kolk, L.E. van der; Vasen, H.F.A.; Hes, F.J.; Cahen, D.L.; Bruno, M.J. & Potjer, T.P. (2021), Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants, Journal of Medical Genetics 58(4): 264-269.
- Landi, M.T.; Bishop, D.T.; MacGregor, S.; Machiela, M.J.; Stratigos, A.J.; Ghiorzo, P.; Brossard, M.; Calista, D.; Choi, J.; Fargnoli, M.C.; Zhang, T.W.; Rodolfo, M.; Trower, A.J.; Menin, C.; Martinez, J.; Hadjisavvas, A.; Song, L.; Stefanaki, I.; Scolyer, R.; Yang, R.; Goldstein, A.M.; Potrony, M.; Kypreou, K.P.; Pastorino, L.; Queirolo, P.; Pellegrini, C.; Cattaneo, L.; Zawistowski, M.; Gimenez-Xavier, P.; Rodriguez, A.; Elefanti, L.; Manoukian, S.; Rivoltini, L.; Smith, B.H.; Loizidou, M.A.; Regno, L. del; Massi, D.; Mandala, M.; Khosrotehrani, K.; Akslen, L.A.; Amos, C.I.; Andresen, P.A.; Avril, M.F.; Azizi, E.; Soyer, H.P.; Bataille, V.; Dalmasso, B.; Bowdler, L.M.; Burdon, K.P.; Chen, W.V.; Codd, V.; Craig, J.E.; Debniak, T.; Falchi, M.; Fang, S.; Friedman, E.; Simi, S.; Galan, P.; Garcia-Casado, Z.; Gillanders, E.M.; Gordon, S.; Green, A.; Gruis, N.A.; Hansson, J.; Harland, M.; Harris, J.; Helsing, P.; Henders, A.; Hocevar, M.; Hoiom, V.; Hunter, D.; Ingvar, C.; Kumar, R.; Lang, J.; Lathrop, G.M.; Lee, J.E.; Li, X.; Lubinski, J.; Mackie, R.M.; Malt, M.; Malvehy, J.; McAloney, K.; Mohamdi, H.; Molven, A.; Moses, E.K.; Neale, R.E.; Novakovic, S.; Nyholt, D.R.; Olsson, H.; Orr, N.; Fritsche, L.G.; Puig-Butille, J.A.; Qureshi, A.A.; Radford-Smith, G.L.; Randerson-Moor, J.; Requena, C.; Rowe, C.; Samani, N.J.; Sanna, M.; Schadendorf, D.; Schulze, H.J.; Simms, L.A.; Smithers, M.; Song, F.; Swerdlow, A.J.; Stoep, N. van der; Kukutsch, N.A.; Visconti, A.; Wallace, L.; Ward, S.V.; Wheeler, L.; Sturm, R.A.; Hutchinson, A.; Jones, K.; Malasky, M.; Vogt, A.; Zhou, W.; Pooley, K.A.; Elder, D.E.; Han, J.L.; Hicks, B.; Hayward, N.K.; Kanetsky, P.A.; Brummett, C.; Montgomery, G.W.; Olsen, C.M.; Hayward, C.; Dunning, A.M.; Martin, N.G.; Evangelou, E.; Mann, G.J.; Long, G.; Pharoah, P.D.P.; Easton, D.F.; Barrett, J.H.; Cust, A.E.; Abecasis, G.; Duffy, D.L.; Whiteman, D.C.; Gogas, H.; Nicolo, A. de; Tucker, M.A.; Newton-Bishop, J.A.; Peris, K.; Chanock, S.J.; Demenais, F.; Brown, K.M.; Puig, S.; Nagore, E.; Shi, J.X.; Iles, M.M.; Law, M.H.; GenoMEL Consortium; Q-MEGA Investigator; QTWIN Investigator; ATHENS Melanoma Study Grp; 23andMe; SDH Study Grp; IBD Investigators; Essen-Heidelberg Investigators; AMFS Investigators & MelaNostrum Consortium (2020), Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility, Nature Genetics 52(5): 494-+.
- Dube, U.; Ibanez, L.; Budde, J.P.; Benitez, B.A.; Davis, A.A.; Harari, O.; Iles, M.M.; Law, M.H.; Brown, K.M.; Agee, M.; Alipanahi, B.; Auton, A.; Bell, R.K.; Bryc, K.; Elson, S.L.; Fontanillas, P.; Furlotte, N.A.; Hinds, D.A.; Huber, K.E.; Kleinman, A.; Litterman, N.K.; McCreight, J.C.; McIntyre, M.H.; Mountain, J.L.; Noblin, E.S.; Northover, C.A.M.; Pitts, S.J.; Sathirapongsasuti, J.F.; Sazonova, O.V.; Shelton, J.F.; Shringarpure, S.; Tian, C.; Tung, J.C.Y.; Vacic, V.; Wilson, C.H.; Law, M.H.; Law, M.H.; Bishop, D.T.; Lee, J.E.; Brossard, M.; Martin, N.G.; Moses, E.K.; Song, F.; Barrett, J.H.; Kumar, R.; Easton, D.F.; Pharoah, P.D.; Swerdlow, A.J.; Kypreou, K.P.; Taylor, J.C.; Harland, M.; Randerson-Moor, J.; Akslen, L.A.; Andresen, P.A.; Avril, M.F.; Azizi, E.; Scarra, G.B.; Brown, K.M.; Debniak, T.; Duffy, D.L.; Elder, D.E.; Fang, S.; Friedman, E.; Galan, P.; Ghiorzo, P.; Gillanders, E.M.; Goldstein, A.M.; Gruis, N.A.; Hansson, J.; Helsing, P.; Hocevar, M.; Hoiom, V.; Ingvar, C.; Kanetsky, P.A.; Chen, W.V.; Landi, M.T.; Lang, J.; Lathrop, G.M.; Lubinski, J.; Mackie, R.M.; Mann, G.J.; Molven, A.; Montgomery, G.W.; Novakovic, S.; Olsson, H.; Puig, S.; Puig-Butille, J.A.; Wu, W.; Qureshi, A.A.; Radford-Smith, G.L.; Stoep, N. van der; Doorn, R. van; Whiteman, D.C.; Craig, J.E.; Schadendorf, E.; Simms, L.A.; Burdon, K.P.; Nyholt, D.R.; Pooley, K.A.; Orr, N.; Stratigos, A.J.; Cust, A.E.; Ward, S.V.; Hayward, N.K.; Han, J.; Schulze, H.J.; Dunning, A.M.; Bishop, J.A.; Demenais, F.; Amos, C.I.; MacGregor, S.; Iles, M.M.; Cruchaga, C.; 23andMe Research Team & Melanoma Meta Analysis Consortium (2020), Overlapping genetic architecture between Parkinson disease and melanoma, Acta Neuropathologica 139(2): 347-364.
- Goossens, R.; Boogaard, M.L. van den; Lemmers, R.J.L.F.; Balog, J.; Vliet, P.J. van der; Willemsen, I.M.; Schouten, J.; Maggio, I.; Stoep, N. van der; Hoeben, R.C.; Tapscott, S.J.; Geijsen, N.; Goncalves, M.A.F.V.; Sacconi, S.; Tawil, R. & Maarel, S.M. van der (2019), Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing, Journal of Medical Genetics 56(12): 828-837.
- Chau, C.; Doorn, R. van; Poppelen, N.M. van; Stoep, N. van der; Mensenkamp, A.R.; Sijmons, R.H.; Paassen, B.W. van; Ouweland, A.M.W. van den; Naus, N.C.; Hout, A.H. van der; Potjer, T.P.; Bleeker, F.E.; Wevers, M.R.; Hest, L.P. van; Jongmans, M.C.J.; Marinkovic, M.; Bleeker, J.C.; Jager, M.J.; Luyten, G.P.M. & Nielsen, M. (2019), Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines, Cancers 11(8).
- Taylor, N.J.; Mitra, N.; Qian, L.; Avril, M.F.; Bishop, D.T.; Bressac-de Paillerets, B.; Bruno, W.; Calista, D.; Cuellar, F.; Cust, A.E.; Demenais, F.; Elder, D.E.; Gerdes, A.M.; Ghiorzo, P.; Goldstein, A.M.; Grazziotin, T.C.; Gruis, N.A.; Hansson, J.; Harland, M.; Hayward, N.K.; Hocevar, M.; Hoiom, V.; Holland, E.A.; Ingvar, C.; Landi, M.T.; Landman, G.; Larre-Borges, A.; Mann, G.J.; Nagore, E.; Olsson, H.; Palmer, J.M.; Peric, B.; Pjanova, D.; Pritchard, A.L.; Puig, S.; Schmid, H.; Stoep, N. van der; Tucker, M.A.; Wadt, K.A.W.; Yang, X.R.; Newton-Bishop, J.A.; Kanetsky, P.A. & GenoMEL Study Grp (2019), Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT, Journal of The American Academy of Dermatology 81(2): 386-394.
- Christodoulou, E.; Visser, M.; Potjer, T.P.; Stoep, N. van der; Rodriguez-Girondo, M.; Doorn, R. van & Gruis, N. (2019), 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, Familial Cancer.
- Potjer, T.P.; Bollen, S.; Grimbergen, A.J.E.M.; Doorn, R. van; Gruis, N.A.; Asperen, C.J. van; Hes, F.J.; Stoep, N. van der & Dutch Working Grp Clinical Oncogen (2019), Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families, International Journal of Cancer 144(10): 2453-2464.
- Visser, M.; Stoep, N. van der & Gruis, N. (2019), Progress report on the major clinical advances in patient-oriented research into familial melanoma (2013-2018), Familial Cancer 18(2): 267-271.
- Zhang, T.W.; Choi, J.; Kovacs, M.A.; Shi, J.X.; Xu, M.; Goldstein, A.M.; Trower, A.J.; Bishop, D.T.; Iles, M.M.; Duffy, D.L.; MacGregor, S.; Amundadottir, L.T.; Law, M.H.; Loftus, S.K.; Pavan, W.J.; Brown, K.M.; NISC Comparative Sequencing & Melanoma Meta-Anal Consortium (2018), Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes, Genome Research 28(11): 1621-1635.
- Goselink, R.J.M.; Schreuder, T.H.A.; Alfen, N. van; Groot, I.J.M. de; Jansen, M.; Lemmers, R.J.L.F.; Vliet, P.J. van der; Stoep, N. van der; Theelen, T.; Voermans, N.C.; Maarel, S.M. van der; Engelen, B.G.M. van & Erasmus, C.E. (2018), Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study, Annals of Neurology 84(5): 627-637.
- Potjer, T.P.; Helgadottir, H.; Leenheer, M.; Stoep, N. van der; Gruis, N.A.; Hoiom, V.; Olsson, H.; Doorn, R. van; Vasen, H.F.A.; Asperen, C.J. van; Dekkers, O.M.; Hes, F.J. & Dutch Working Grp Clinical Onc (2018), CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe, Journal of Medical Genetics 55(10): 661-668.
- Lemmers, R.J.L.F.; Vliet, P.J. van der; Vreijling, J.P.; Henderson, D.; Stoep, N. van der; Voermans, N.; Engelen, B. van; Baas, F.; Sacconi, S.; Tawil, R. & Maarel, S.M. van der (2018), Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2, Human Molecular Genetics 27(20): 3488-3497.
- Jonge, M.M. de; Ruano, D.; Eijk, R. van; Stoep, N. van der; Nielsen, M.; Wijnen, J.T.; Haar, N.T. ter; Baalbergen, A.; Bos, M.E.M.M.; Kagie, M.J.; Vreeswijk, M.P.G.; Gaarenstroom, K.N.; Kroep, J.R.; Smit, V.T.H.B.M.; Bosse, T.; Wezel, T. van & Asperen, C.J. van (2018), Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue, Journal of Molecular Diagnostics 20(5): 600-611.
- Taylor, N.J.; Mitra, N.; Goldstein, A.M.; Tucker, M.A.; Avil, M.F.; Azizi, E.; Bergman, W.; Bishop, D.T.; Bressac-de Paillerets, B.; Bruno, W.; Calista, D.; Cannon-Albright, L.A.; Cuellar, F.; Cust, A.E.; Demenais, F.; Elder, D.E.; Gerdes, A.M.; Ghiorzo, P.; Grazziotin, T.C.; Hansson, J.; Harland, M.; Hayward, N.K.; Hocevar, M.; Hoiom, V.; Ingvar, C.; Landi, M.T.; Landman, G.; Larre-Borges, A.; Leachman, S.A.; Mann, G.J.; Nagore, E.; Olsson, H.; Palmer, J.M.; Peric, B.; Pjanova, D.; Pritchard, A.; Puig, S.; Stoep, N. van der; Wadt, K.A.W.; Whitaker, L.; Yang, X.R.; Bishop, J.A.N.; Gruis, N.A.; Kanetsky, P.A. & GenoMEL Study Grp (2017), Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families, Journal of Investigative Dermatology 137(12): 2606-2612.
- Fang, J.; Jia, J.P.; Makowski, M.; Xu, M.; Wang, Z.M.; Zhang, T.W.; Hoskins, J.W.; Choi, J.; Han, Y.H.; Zhang, M.F.; Thomas, J.; Kovacs, M.; Collins, I.; Dzyadyk, M.; Thompson, A.; O'Neill, M.; , S. das; Lan, Q.; Koster, R.; Stolzenberg-Solomon, R.S.; Kraft, P.; Wolpin, B.M.; Jansen, P.W.T.C.; Olson, S.; McGlynn, K.A.; Kanetsky, P.A.; Chatterjee, N.; Barrett, J.H.; Dunning, A.M.; Taylor, J.C.; Newton-Bishop, J.A.; Bishop, D.T.; Andresson, T.; Petersen, G.M.; Amos, C.I.; Iles, M.M.; Nathanson, K.L.; Landi, M.T.; Vermeulen, M.; Brown, K.M.; Amundadottir, L.T.; PanScan Consortium; TRICL Consortium & GenoMel Consortium (2017), Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148, Nature Communications 8.
- Jonge, M. de; Eijk, R. van; Ruano, D.; Wijnen, J.; Stoep, N. van der; Nielsen, M.; Gaarenstroom, K.; Kroep, J.; Wezel, T. van; Bosse, T. & Asperen, C. van (2016), BRCA1/2 mutational analysis on formalin fixed paraffin embedded (FFPE) ovarian tumour DNA, International Journal of Gynecological Cancer 26: 129-129.
- Taylor, N.J.; Handorf, E.A.; Mitra, N.; Avril, M.F.; Azizi, E.; Bergman, W.; Bianchi-Scarra, G.; Bishop, D.T.; Bressac-de Paillerets, B.; Calista, D.; Cannon-Albright, L.A.; Cuellar, F.; Cust, A.E.; Demenais, F.; Elder, D.E.; Friedman, E.; Gerdes, A.M.; Ghiorzo, P.; Goldstein, A.M.; Grazziotin, T.C.; Hansson, J.; Hayward, N.K.; Hocevar, M.; Hoiom, V.; Holland, E.A.; Ingvar, C.; Landi, M.T.; Landman, G.; Larre-Borges, A.; Leachman, S.A.; Mann, G.J.; Nagore, E.; Olsson, H.; Palmer, J.; Peric, B.; Pjanova, D.; Puig, S.; Schmid, H.; Stoep, N. van der; Tucker, M.A.; Wadt, K.A.W.; Whitaker, L.; Yang, X.H.R.; Bishop, J.A.N.; Gruis, N.A.; Kanetsky, P.A. & GenoMEL Consortium (2016), Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families, Journal of Investigative Dermatology 136(5): 1066-1069.
- Boogaard, M.L. van den; Lemmers, R.J.F.L.; Camano, P.; Vliet, P.J. van der; Voermans, N.; Engelen, B.G.M. van; Munain, A.L. de; Tapscott, S.J.; Stoep, N. van der; Tawil, R. & Maarel, S.M. van der (2016), Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2, European Journal of Human Genetics 24(1): 78-85.
- Oever, J.M.E. van den; Minderhout, I.J.H.M. van; Harteveld, C.L.; Hollander, N.S. den; Bakker, E.; Stoep, N. van der & Boon, E.M.J. (2015), A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma, Journal of Molecular Diagnostics 17(5): 590-596.
- Law, M.H.; Bishop, D.T.; Lee, J.E.; Brossard, M.; Martin, N.G.; Moses, E.K.; Song, F.J.; Barrett, J.H.; Kumar, R.; Easton, D.F.; Pharoah, P.D.P.; Swerdlow, A.J.; Kypreou, K.P.; Taylor, J.C.; Harland, M.; Randerson-Moor, J.; Akslen, L.A.; Andresen, P.A.; Avril, M.F.; Azizi, E.; Scarra, G.B.; Brown, K.M.; Debniak, T.; Duffy, D.L.; Elder, D.E.; Fang, S.Y.; Friedman, E.; Galan, P.; Ghiorzo, P.; Gillanders, E.M.; Goldstein, A.M.; Gruis, N.A.; Hansson, J.; Helsing, P.; Hocevar, M.; Hoiom, V.; Ingvar, C.; Kanetsky, P.A.; Chen, W.V.; Landi, M.T.; Lang, J.; Lathrop, G.M.; Lubinski, J.; Mackie, R.M.; Mann, G.J.; Molven, A.; Montgomery, G.W.; Novakovic, S.; Olsson, H.; Puig, S.; Puig-Butille, J.A.; Qureshi, A.A.; Radford-Smith, G.L.; Stoep, N. van der; Doorn, R. van; Whiteman, D.C.; Craig, J.E.; Schadendorf, D.; Simms, L.A.; Burdon, K.P.; Nyholt, D.R.; Pooley, K.A.; Orr, N.; Stratigos, A.J.; Cust, A.E.; Ward, S.V.; Hayward, N.K.; Han, J.L.; Schulze, H.J.; Dunning, A.M.; Bishop, J.A.N.; Demenais, F.; Amos, C.I.; MacGregor, S.; Iles, M.M.; GenoMEL Consortium; Essen-Heidelberg Investigators; SDH Study Grp; Q-MEGA QTWIN Investigators; AMFS Investigators & ATHENS Melanoma Study Grp (2015), Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma, Nature Genetics 47(9): 987-+.
- Vrijenhoek, T.; Kraaijeveld, K.; Elferink, M.; Ligt, J. de; Kranendonk, E.; Santen, G.; Nijman, I.J.; Butler, D.; Claes, G.; Costessi, A.; Dorlijn, W.; Eyndhoven, W. van; Halley, D.J.J.; Hout, M.C.G.N. van den; Hove, S. van; Johansson, L.F.; Jongbloed, J.D.H.; Kamps, R.; Kockx, C.E.M.; Koning, B. de; Kriek, M.; Deprez, R.L.D.; Lunstroo, H.; Mannens, M.; Mook, O.R.; Nelen, M.; Ploem, C.; Rijnen, M.; Saris, J.J.; Sinke, R.; Sistermans, E.; Slegtenhorst, M. van; Sleutels, F.; Stoep, N. van der; Tienhoven, M. van; Vermaat, M.; Vogel, M.; Waisfisz, Q.; Weiss, J.M.; Wijngaard, A. van den; Workum, W. van; Ijntema, H.; Zwaag, B. van der; IJcken, W.F.J. van; Dunnen, J. den; Veltman, J.A.; Hennekam, R. & Cuppen, E. (2015), Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects, European Journal of Human Genetics 23(9): 1142-1150.
- Out, A.A.; Minderhout, I.J.H.M. van; Stoep, N. van der; Bommel, L.S.R. van; Kluijt, I.; Aalfs, C.; Voorendt, M.; Vossen, R.H.A.M.; Nielsen, M.; Vasen, H.F.A.; Morreau, H.; Devilee, P.; Tops, C.M.J. & Hes, F.J. (2015), High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations, Familial Cancer 14(2): 247-257.
- Barrett, J.H.; Taylor, J.C.; Bright, C.; Harland, M.; Dunning, A.M.; Akslen, L.A.; Andresen, P.A.; Avril, M.F.; Azizi, E.; Scarra, G.B.; Brossard, M.; Brown, K.M.; Debniak, T.; Elder, D.E.; Friedman, E.; Ghiorzo, P.; Gillanders, E.M.; Gruis, N.A.; Hansson, J.; Helsing, P.; Hocevar, M.; Hoiom, V.; Ingvar, C.; Landi, M.T.; Lang, J.; Lathrop, G.M.; Lubinski, J.; Mackie, R.M.; Molven, A.; Novakovic, S.; Olsson, H.; Puig, S.; Puig-Butille, J.A.; Stoep, N. van der; Doorn, R. van; Workum, W. van; Goldstein, A.M.; Kanetsky, P.A.; Pharoah, P.D.P.; Demenais, F.; Hayward, N.K.; Newton Bishop, J.A.; Bishop, D.T.; Iles, M.M. & GenoMEL Consortium (2015), Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions, International Journal of Cancer 136(6): 1351-1360.
- Thomas P Potjer, Nienke van der Stoep, Jeanine J Houwing-Duistermaat, Ingrid C A W Konings, Cora M Aalfs, Peter C van den Akker, Margreet G Ausems, Charlotte J Dommering, Lizet E van der Kolk, Merel C Maiburg, Liesbeth Spruijt, Anja Wagner, Hans F A Vasen & and Frederik J Hes (2015), Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case–control study, BMC Research Notes 8.
- Iles, M.M.; Bishop, D.T.; Taylor, J.C.; Hayward, N.K.; Brossard, M.; Cust, A.E.; Dunning, A.M.; Lee, J.E.; Moses, E.K.; Akslen, L.A.; Andresen, P.A.; Avril, M.F.; Azizi, E.; Scarra, G.B.; Brown, K.M.; Debniak, T.; Elder, D.E.; Friedman, E.; Ghiorzo, P.; Gillanders, E.M.; Goldstein, A.M.; Gruis, N.A.; Hansson, J.; Harland, M.; Helsing, P.; Hocevar, M.; Hoiom, V.; Ingvar, C.; Kanetsky, P.A.; Landi, M.T.; Lang, J.; Lathrop, G.M.; Lubinski, J.; Mackie, R.M.; Martin, N.G.; Molven, A.; Montgomery, G.W.; Novakovic, S.; Olsson, H.; Puig, S.; Puig-Butille, J.A.; Radford-Smith, G.L.; Randerson-Moor, J.; Stoep, N. van der; Doorn, R. van; Whiteman, D.C.; MacGregor, S.; Pooley, K.A.; Ward, S.V.; Mann, G.J.; Amos, C.I.; Pharoah, P.D.P.; Demenais, F.; Law, M.H.; Bishop, J.A.N.; Barrett, J.H.; AMFS Investigators; IBD Investigators; QMEGA Investigator; QTWIN Investigator; SDH Study Grp & GenoMEL Consortium (2014), The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length, JNCI: Journal of the National Cancer Institute 106(10).
- Weiss, M.M.; Zwaag, B. van der; Jongbloed, J.D.H.; Vogel, M.J.; Bruggenwirth, H.T.; Deprez, R.H.L.; Mook, O.; Ruivenkamp, C.A.L.; Slegtenhorst, M.A. van; Wijngaard, A. van den; Waisfisz, Q.; Nelen, M.R. & Stoep, N. van der (2013), Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories, Human Mutation 34(10): 1313-1321.
- Quint, K.D.; Rhee, J.I. van der; Gruis, N.A.; Huurne, J.A. ter; Wolterbeek, R.; Stoep, N. van der; Bergman, W. & Kukutsch, N.A. (2012), Melanocortin 1 Receptor (MC1R) Variants in High Melanoma Risk Patients are Associated with Specific Dermoscopic ABCD Features, Acta Dermato-Venereologica 92(6): 587-592.
- Harinck, F.; Kluijt, I.; Stoep, N. van der; Oldenburg, R.A.; Wagner, A.; Aalfs, C.M.; Sijmons, R.H.; Poley, J.W.; Kuipers, E.J.; Fockens, P.; Os, T.A.M. van & Bruno, M.J. (2012), Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas, Journal of Medical Genetics 49(6): 362-365.
- Barrett, J.H.; Iles, M.M.; Harland, M.; Taylor, J.C.; Aitken, J.F.; Andresen, P.A.; Akslen, L.A.; Armstrong, B.K.; Avril, M.F.; Azizi, E.; Bakker, B.; Bergman, W.; Bianchi-Scarra, G.; Bressac-de Paillerets, B.; Calista, D.; Cannon-Albright, L.A.; Corda, E.; Cust, A.E.; Debniak, T.; Duffy, D.; Dunning, A.M.; Easton, D.F.; Friedman, E.; Galan, P.; Ghiorzo, P.; Giles, G.G.; Hansson, J.; Hocevar, M.; Hoiom, V.; Hopper, J.L.; Ingvar, C.; Janssen, B.; Jenkins, M.A.; Jonsson, G.; Kefford, R.F.; Landi, G.; Landi, M.T.; Lang, J.; Lubinski, J.; Mackie, R.; Malvehy, J.; Martin, N.G.; Molven, A.; Montgomery, G.W.; Nieuwpoort, F.A. van; Novakovic, S.; Olsson, H.; Pastorino, L.; Puig, S.; Puig-Butille, J.A.; Randerson-Moor, J.; Snowden, H.; Tuominen, R.; VanBelle, P.; Stoep, N. van der; Whiteman, D.C.; Zelenika, D.; Han, J.L.; Fang, S.Y.; Lee, J.E.; Wei, Q.Y.; Lathrop, G.M.; Gillanders, E.M.; Brown, K.M.; Goldstein, A.M.; Kanetsky, P.A.; Mann, G.J.; MacGregor, S.; Elder, D.E.; Amos, C.I.; Hayward, N.K.; Gruis, N.A.; Demenais, F.; Bishop, J.A.N.; Bishop, D.T. & GenoMEL Consortium (2011), Genome-wide association study identifies three new melanoma susceptibility loci, Nature Genetics 43(11): 1108-U98.
- Iyevleva, A.G.; Suspitsin, E.N.; Kroeze, K.; Gorodnova, T.V.; Sokolenko, A.P.; Buslov, K.G.; Voskresenskiy, D.A.; Togo, A.V.; Kovalenko, S.P.; Stoep, N. van der; Devilee, P. & Imyanitov, E.N. (2010), Non-founder BRCA1 mutations in Russian breast cancer patients, Cancer Letters 298(2): 258-263.
- Mattocks, C.J.; Morris, M.A.; Matthijs, G.; Swinnen, E.; Corveleyn, A.; Dequeker, E.; Muller, C.R.; Pratt, V.; Wallace, A. & EuroGentest Validation Grp (2010), A standardized framework for the validation and verification of clinical molecular genetic tests., European Journal of Human Genetics.
- van der Stoep N, van Paridon CD, Janssens T, Krenkova P, Stambergova A, Macek M, Matthijs G & Bakker E (2009), Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner., Human Mutation 30(6): 899-909.
- Almomani R, van der Stoep N, Bakker E, den Dunnen JT, Breuning MH & Ginjaar IB (2009), Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis, Neuromuscular Disorders 19(6): 383-390.
- van der Stoep N, Quinten E, Alblas G, Plancke A, van Eggermond MCJA, Holling TA & van den Elsen PJ (2007), Constitutive and IFN gamma-induced activation of MHC2TA promoter type III in human melanoma cell lines is governed by separate regulatory elements within the PIII upstream regulatory region, Molecular Immunology 44(8).
- van der Stoep N, Quinten E, Rezende MM & van den Elsen PJ (2004), E47, IRF-4, and PU.1 synergize to induce B-cell-specific activation of the class II transactivator promoter III (CIITA-PIII), Blood 104(9).
- Holling TM, Van der Stoep N & Van den Elsen PJ (2004), Epigenetic control of CIITA expression in leukemic T cells, Biochemical Pharmacology 68(6).
- van den Elsen PJ, Holling TM, Kuipers HF & van der Stoep N (2004), Transcriptional regulation of antigen presentation, Current Opinion in Immunology 16(1).
- van den Elsen PJ, Holling TM, van der Stoep N & Boss JM (2003), DNA methylation and expression of major histocompatibility complex class I and class II transactivator genes in human developmental tumor cells and in T cell malignancies, Clinical Immunology 109(1).
- van den Elsen PJ & van der Stoep N (2003), Class II transactivator (CIITA) deficiency in tumor cells: Complicated mechanisms or not?, American Journal of Pathology 163(1).
- van der Stoep N, Quinten E & van den Elsen PJ (2002), Transcriptional regulation of the MHC class II trans-activator (CIITA) promoter III: Identification of a novel regulatory region in the 5 '-untranslated region and an important role for cAMP-responsive element binding protein 1 and activating transcription factor-1 in CIITA-promoter III transcriptional activation in B lymphocytes, Journal of Immunology 169(9).
- van der Stoep N, Biesta P, Quinten E & van den Elsen PJ (2002), Lack of IFN-gamma-mediated induction of the class II transactivator (CIITA) through promoter methylation is predominantly found in developmental tumor cell lines, International Journal of Cancer 97(4).
- Holling TM, van der Stoep N, Quinten E & van den Elsen PJ (2002), Activated human T cells accomplish MHC class II expression through T cell-specific occupation of class II transactivator promoter III, Journal of Immunology 168(2).
- van den Elsen PJ, Gobin SJP, van der Stoep N, Datema G & Vietor HE (2001), Transcriptional control of MHC genes in fetal trophoblast cells, Journal of Reproductive Immunology 52(1-2).
- van den Elsen PJ, van der Stoep N, Vietor HE, Wilson L, van Zutphen M & Gobin SJP (2000), Lack of CIITA expression is central to the absence of antigen presentation functions of trophoblast cells and is caused by methylation of the IFN-gamma inducible promoter (PIV) of CIITA, Human Immunology 61(9).