Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines von 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.

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Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non‐CDKN2A/CDK4 melanoma families von Potjer, Thomas P., Bollen, Sander, Grimbergen, Anneliese J.E.M., Doorn, Remco, Gruis, Nelleke A., Asperen, Christi J., Hes, Frederik J., Stoep, Nienke

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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect von 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

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Progress report on the major clinical advances in patient-oriented research into familial melanoma (2013–2018) von Visser, Mijke, van der Stoep, Nienke, Gruis, Nelleke

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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines von 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

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Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study von 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.

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Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease von 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

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CM-Score : A validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe von 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.

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Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction von 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

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Polygenic Risk Score Improves Melanoma Risk Assessment in a Patient Cohort from the Veneto Region of Italy von 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

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Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2 von 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

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Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma von Law, Matthew H, Bishop, D Timothy, Lee, Jeffrey E, Brossard, Myriam, Martin, Nicholas G, Moses, Eric K, Song, Fengju, Barrett, Jennifer H, Kumar, Rajiv, Easton, Douglas F, Pharoah, Paul D P, Swerdlow, Anthony J, Kypreou, Katerina P, Taylor, John C, Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A, Andresen, Per A, Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M, Dȩbniak, Tadeusz, Duffy, David L, Elder, David E, Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M, Goldstein, Alisa M, Gruis, Nelleke A, Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A, Chen, Wei V, Landi, Maria Teresa, Lang, Julie, Lathrop, G Mark, Lubiński, Jan, Mackie, Rona M, Mann, Graham J, Molven, Anders, Montgomery, Grant W, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Qureshi, Abrar A, Radford-Smith, Graham L, van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C, Craig, Jamie E, Schadendorf, Dirk, Simms, Lisa A, Burdon, Kathryn P, Nyholt, Dale R, Pooley, Karen A, Orr, Nick, Stratigos, Alexander J, Cust, Anne E, Ward, Sarah V, Hayward, Nicholas K, Han, Jiali, Schulze, Hans-Joachim, Dunning, Alison M, Bishop, Julia A Newton, Demenais, Florence, Amos, Christopher I, MacGregor, Stuart, Iles, Mark M

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Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas von 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

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Non-founder BRCA1 mutations in Russian breast cancer patients von 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

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Growth Retardation and Leaky SCID Phenotype of Ku70-Deficient Mice von 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

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E47, IRF-4, and PU.1 synergize to induce B-cell-specific activation of the class II transactivator promoter III (CIITA-PIII) von van der Stoep, Nienke, Quinten, Edwin, Rezende, Marisa Marcondes, van den Elsen, Peter J.

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Class switching in B cells lacking 3' immunoglobulin heavy chain enhancers von Manis, J P, van der Stoep, N, Tian, M, Ferrini, R, Davidson, L, Bottaro, A, Alt, F W

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Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy von Lemmers, Richard J.L.F, Butterfield, Russell, Van Der Vliet, Patrick J, De Bleecker, Jan L, Van Der Pol, Ludo, Dunn, Diane M, Erasmus, Corrie E, D'Hooghe, Marc, Verhoeven, Kristof, Balog, Judit, Bigot, Anne, Van Engelen, Baziel, Statland, Jeffrey, Bugiardini, Enrico, Van Der Stoep, Nienke, Evangelista, Teresinha, Marini-Bettolo, Chiara, Van Den Bergh, Peter, Tawil, Rabi, Voermans, Nicol C, Vissing, John, Weiss, Robert B, Van Der Maarel, Silvere M

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Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories von Weiss, Marjan M., Van der Zwaag, Bert, Jongbloed, Jan D. H., Vogel, Maartje J., Brüggenwirth, Hennie T., Lekanne Deprez, Ronald H., Mook, Olaf, Ruivenkamp, Claudia A. L., van Slegtenhorst, Marjon A., van den Wijngaard, Arthur, Waisfisz, Quinten, Nelen, Marcel R., van der Stoep, Nienke

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Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways von Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart, Sturm, Richard A., Hewitt, Alex W., Kayser, Manfred, Hunter, David J., Newton Bishop, Julia A., Spector, Timothy D., Montgomery, Grant W., Mackey, David A., Smith, George Davey, Nijsten, Tamar E., Bishop, D. Timothy, Bataille, Veronique, Falchi, Mario, Han, Jiali, Martin, Nicholas G.

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