Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non‐CDKN2A/CDK4 melanoma families
Potjer, Thomas P., Bollen, Sander, Grimbergen, Anneliese J.E.M., Doorn, Remco, Gruis, Nelleke A., Asperen, Christi J., Hes, Frederik J., Stoep, Nienke
Published in International journal of cancer (15.05.2019)
Published in International journal of cancer (15.05.2019)
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Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
Overbeek, Kasper A, Rodríguez-Girondo, Mar DM, Wagner, Anja, van der Stoep, Nienke, van den Akker, Peter C, Oosterwijk, Jan C, van Os, Theo A, van der Kolk, Lizet E, Vasen, Hans F A, Hes, Frederik J, Cahen, Djuna L, Bruno, Marco J, Potjer, Thomas P
Published in Journal of medical genetics (01.04.2021)
Published in Journal of medical genetics (01.04.2021)
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Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Goossens, Remko, van den Boogaard, Marlinde L, Lemmers, Richard J L F, Balog, Judit, van der Vliet, Patrick J, Willemsen, Iris M, Schouten, Julie, Maggio, Ignazio, van der Stoep, Nienke, Hoeben, Rob C, Tapscott, Stephen J, Geijsen, Niels, Gonçalves, Manuel A F V, Sacconi, Sabrina, Tawil, Rabi, van der Maarel, Silvère M
Published in Journal of medical genetics (01.12.2019)
Published in Journal of medical genetics (01.12.2019)
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Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma
Potjer, Thomas P, van der Grinten, Tara W J, Lakeman, Inge M M, Bollen, Sander H, Rodríguez-Girondo, Mar, Iles, Mark M, Barrett, Jennifer H, Kiemeney, Lambertus A, Gruis, Nelleke A, van Asperen, Christi J, van der Stoep, Nienke
Published in Journal of medical genetics (01.11.2021)
Published in Journal of medical genetics (01.11.2021)
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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
Lemmers, Richard J L F, van der Vliet, Patrick J, Granado, David San Leon, van der Stoep, Nienke, Buermans, Henk, van Schendel, Robin, Schimmel, Joost, de Visser, Marianne, van Coster, Rudy, Jeanpierre, Marc, Laforet, Pascal, Upadhyaya, Meena, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Voermans, Nicol C, Rogers, Mark, van der Maarel, Silvère M
Published in Human molecular genetics (03.03.2022)
Published in Human molecular genetics (03.03.2022)
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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines
Giardina, Emiliano, Camaño, Pilar, Burton‐Jones, Sarah, Ravenscroft, Gina, Henning, Franclo, Magdinier, Frederique, Stoep, Nienke, Vliet, Patrick J., Bernard, Rafaëlle, Tomaselli, Pedro J., Davis, Mark R., Nishino, Ichizo, Oflazer, Piraye, Race, Valerie, Vishnu, Venugopalan Y., Williams, Victoria, Sobreira, Cláudia F. R., Maarel, Silvere M., Moore, Steve A., Voermans, Nicol C., Lemmers, Richard J. L. F.
Published in Clinical genetics (01.07.2024)
Published in Clinical genetics (01.07.2024)
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SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Lemmers, Richard J L F, van der Stoep, Nienke, Vliet, Patrick J van der, Moore, Steven A, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Shaw, Natalie D, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère M
Published in Journal of medical genetics (01.10.2019)
Published in Journal of medical genetics (01.10.2019)
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Polygenic Risk Score Improves Melanoma Risk Assessment in a Patient Cohort from the Veneto Region of Italy
Pellegrini, Stefania, Potjer, Thomas P, Del Bianco, Paola, Vecchiato, Antonella, Fabozzi, Alessio, Piccin, Luisa, Tonello, Debora, van der Stoep, Nienke, Tinsley, Emily, Landi, Maria Teresa, Iles, Mark M, Menin, Chiara
Published in Biology (Basel, Switzerland) (20.11.2024)
Published in Biology (Basel, Switzerland) (20.11.2024)
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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
Chau, Cindy, van Doorn, Remco, van Poppelen, Natasha M, van der Stoep, Nienke, Mensenkamp, Arjen R, Sijmons, Rolf H, van Paassen, Barbara W, van den Ouweland, Ans M W, Naus, Nicole C, van der Hout, Annemieke H, Potjer, Thomas P, Bleeker, Fonnet E, Wevers, Marijke R, van Hest, Liselotte P, Jongmans, Marjolijn C J, Marinkovic, Marina, Bleeker, Jaco C, Jager, Martine J, Luyten, Gregorius P M, Nielsen, Maartje
Published in Cancers (04.08.2019)
Published in Cancers (04.08.2019)
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Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Goselink, Rianne J.M., Schreuder, Tim H.A., van Alfen, Nens, de Groot, Imelda J.M., Jansen, Merel, Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Stoep, Nienke, Theelen, Thomas, Voermans, Nicol C., van der Maarel, Silvère M., van Engelen, Baziel G.M., Erasmus, Corrie E.
Published in Annals of neurology (01.11.2018)
Published in Annals of neurology (01.11.2018)
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Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction
Tüchler, Anja, De Pauw, Antoine, Ernst, Corinna, Anota, Amélie, Lakeman, Inge M.M., Dick, Julia, van der Stoep, Nienke, van Asperen, Christi J., Maringa, Monika, Herold, Natalie, Blümcke, Britta, Remy, Robert, Westerhoff, Anke, Stommel-Jenner, Denise J., Frouin, Eléonore, Richters, Lisa, Golmard, Lisa, Kütting, Nadine, Colas, Chrystelle, Wappenschmidt, Barbara, Rhiem, Kerstin, Devilee, Peter, Stoppa-Lyonnet, Dominique, Schmutzler, Rita K., Hahnen, Eric
Published in Breast (Edinburgh) (01.02.2024)
Published in Breast (Edinburgh) (01.02.2024)
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Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease
Vincenten, Sanne C. C., Van Der Stoep, Nienke, Paulussen, Aimée D. C., Mul, Karlien, Badrising, Umesh A., Kriek, Marjolein, Van Der Heijden, Olivier W. H., Van Engelen, Baziel G. M., Voermans, Nicol C., De Die‐Smulders, Christine E. M., Lassche, Saskia
Published in Clinical genetics (01.02.2022)
Published in Clinical genetics (01.02.2022)
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2022-RA-637-ESGO Five-year universal tumor screening of BRCA1/2 in epithelial ovarian carcinoma;is histotype-directed hr-deficiency testing justified?
Kramer, Claire JH, Lanjouw, Lieke, Elst, Arja ter, Solleveld-Westerink, Nienke, Hazelbag, Hans M, Kagie, Marjolein J, Ahsmann, Els JM, van der Hout, Annemieke H, van der Stoep, Nienke, de Kroon, Cor D, Gaarenstroom, Katja N, van Wezel, Tom, Berger, Lieke PV, Smit, Vincent THBM, de Bock, Truuske H, van Asperen, Christi J, Mourits, Marian JE, Vreeswijk, Maaike PG, Bart, Joost, Bosse, Tjalling
Published in International journal of gynecological cancer (20.10.2022)
Published in International journal of gynecological cancer (20.10.2022)
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CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe
Potjer, Thomas P, Helgadottir, Hildur, Leenheer, Mirjam, van der Stoep, Nienke, Gruis, Nelleke A, Höiom, Veronica, Olsson, Håkan, van Doorn, Remco, Vasen, Hans F A, van Asperen, Christi J, Dekkers, Olaf M, Hes, Frederik J, Wagner, A, Der kolk, L Van, Ausems, M, Os, Th Van, Leter, E M, Spruijt, L, Engelen, K Van, Berger, L
Published in Journal of medical genetics (01.10.2018)
Published in Journal of medical genetics (01.10.2018)
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Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2
van den Boogaard, Marlinde L, Lemmers, Richard J F L, Camaño, Pilar, van der Vliet, Patrick J, Voermans, Nicol, van Engelen, Baziel G M, Lopez de Munain, Adolfo, Tapscott, Stephen J, van der Stoep, Nienke, Tawil, Rabi, van der Maarel, Silvère M
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas
Harinck, Femme, Kluijt, Irma, van der Stoep, Nienke, Oldenburg, Rogier A, Wagner, Anja, Aalfs, Cora M, Sijmons, Rolf H, Poley, Jan-Werner, Kuipers, Ernst J, Fockens, Paul, van Os, Theo A M, Bruno, Marco J
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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Non-founder BRCA1 mutations in Russian breast cancer patients
Iyevleva, Aglaya G, Suspitsin, Evgeny N, Kroeze, Karin, Gorodnova, Tatiana V, Sokolenko, Anna P, Buslov, Konstantin G, Voskresenskiy, Dmitry A, Togo, Alexandr V, Kovalenko, Sergey P, Stoep, Nienke van der, Devilee, Peter, Imyanitov, Evgeny N
Published in Cancer letters (08.12.2010)
Published in Cancer letters (08.12.2010)
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Growth Retardation and Leaky SCID Phenotype of Ku70-Deficient Mice
Gu, Yansong, Seidl, Katherine J, Rathbun, Gary A, Zhu, Chengming, Manis, John P, van der Stoep, Nienke, Davidson, Laurie, Cheng, Hwei-Ling, Sekiguchi, JoAnn M, Frank, Karen, Stanhope-Baker, Patricia, Schlissel, Mark S, Roth, David B, Alt, Frederick W
Published in Immunity (Cambridge, Mass.) (01.11.1997)
Published in Immunity (Cambridge, Mass.) (01.11.1997)
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