Framing the potential of public frameshift peptides as immunotherapy targets in colon cancer von Spaanderman, Ide T, Peters, Fleur S, Jongejan, Aldo, Redeker, Egbert J. W, Punt, Cornelis J. A, Bins, Adriaan D

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Microfluidic Amplification as a Tool for Massive Parallel Sequencing of the Familial Hypercholesterolemia Genes von HOLLANTS, Silke, REDEKER, Egbert J. W, MATTHIJS, Gert

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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands von Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne

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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly von Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K, Johansson, Lennart F, van Essen, Anthonie J, Verheij, Johanna B G M, Veenstra-Knol, Hermine E, Redeker, Egbert J W, Mannens, Marcel M A M, Swertz, Morris A, Alizadeh, Behrooz Z, van Ravenswaaij-Arts, Conny M A, Sinke, Richard J, Sikkema-Raddatz, Birgit

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Leiden open variation database of the MUTYH gene von Out, Astrid A, Tops, Carli M.J, Nielsen, Maartje, Weiss, Marjan M, van Minderhout, Ivonne J.H.M, Fokkema, Ivo F.A.C, Buisine, Marie‐Pierre, Claes, Kathleen, Colas, Chrystelle, Fodde, Riccardo, Fostira, Florentia, Franken, Patrick F, Gaustadnes, Mette, Heinimann, Karl, Hodgson, Shirley V, Hogervorst, Frans B.L, Holinski‐Feder, Elke, Lagerstedt‐Robinson, Kristina, Olschwang, Sylviane, Ans M.W., van den Ouweland, Redeker, Egbert J.W, Scott, Rodney J, Vankeirsbilck, Bruno, Grønlund, Rikke Veggerby, Wijnen, Juul T, Wikman, Friedrik P, Aretz, Stefan, Sampson, Julian R, Devilee, Peter, den Dunnen, Johan T, Hes, Frederik J

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High rate of mosaicism in individuals with Cornelia de Lange syndrome von Huisman, Sylvia A, Redeker, Egbert J W, Maas, Saskia M, Mannens, Marcel M, Hennekam, Raoul C M

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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study von Kempers, Marlies JE, MD, Kuiper, Roland P, PhD, Ockeloen, Charlotte W, MD, Chappuis, Pierre O, MD, Hutter, Pierre, PhD, Rahner, Nils, MD, Schackert, Hans K, Prof, Steinke, Verena, MD, Holinski-Feder, Elke, Prof, Morak, Monika, PhD, Kloor, Matthias, MD, Büttner, Reinhard, MD, Verwiel, Eugene TP, BSc, van Krieken, J Han, Prof, Nagtegaal, Iris D, MD, Goossens, Monique, BSc, van der Post, Rachel S, MD, Niessen, Renée C, PhD, Sijmons, Rolf H, MD, Kluijt, Irma, MD, Hogervorst, Frans BL, PhD, Leter, Edward M, MD, Gille, Johan JP, PhD, Aalfs, Cora M, MD, Redeker, Egbert JW, PhD, Hes, Frederik J, MD, Tops, Carli MJ, PhD, van Nesselrooij, Bernadette PM, MD, van Gijn, Marielle E, PhD, García, Encarna B Gómez, MD, Eccles, Diana M, Prof, Bunyan, David J, PhD, Syngal, Sapna, MD, Stoffel, Elena M, MD, Culver, Julie O, MSc, Palomares, Melanie R, MD, Graham, Tracy, MSc, Velsher, Lea, MD, Papp, Janos, PhD, Oláh, Edith, Prof, Chan, Tsun L, PhD, Leung, Suet Y, Prof, van Kessel, Ad Geurts, Prof, Kiemeney, Lambertus ALM, Prof, Hoogerbrugge, Nicoline, Prof, Ligtenberg, Marjolijn JL, Dr

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DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma von de Lange, Jan, van Maarle, Merel C, van den Akker, Hans P, Redeker, Egbert J.W

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Targeted carrier screening for four recessive disorders: High detection rate within a founder population von Mathijssen, Inge B, Henneman, Lidewij, van Eeten-Nijman, Janneke M.C, Lakeman, Phillis, Ottenheim, Cecile P.E, Redeker, Egbert J.W, Ottenhof, Winnie, Meijers-Heijboer, Hanne, van Maarle, Merel C

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With expanded carrier screening, founder populations run the risk of being overlooked von Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne

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A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism von de Lange, Jan, MD, DMD, van Maarle, Merel C., MD, PhD, van den Akker, Hans P., DMD, PhD, Redeker, Egbert J.W., PhD

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Cancer Risks for PMS2-Associated Lynch Syndrome von Ten Broeke, Sanne W, van der Klift, Heleen M, Tops, Carli M J, Aretz, Stefan, Bernstein, Inge, Buchanan, Daniel D, de la Chapelle, Albert, Capella, Gabriel, Clendenning, Mark, Engel, Christoph, Gallinger, Steven, Gomez Garcia, Encarna, Figueiredo, Jane C, Haile, Robert, Hampel, Heather L, Hopper, John L, Hoogerbrugge, Nicoline, von Knebel Doeberitz, Magnus, Le Marchand, Loic, Letteboer, Tom G W, Jenkins, Mark A, Lindblom, Annika, Lindor, Noralane M, Mensenkamp, Arjen R, Møller, Pål, Newcomb, Polly A, van Os, Theo A M, Pearlman, Rachel, Pineda, Marta, Rahner, Nils, Redeker, Egbert J W, Olderode-Berends, Maran J W, Rosty, Christophe, Schackert, Hans K, Scott, Rodney, Senter, Leigha, Spruijt, Liesbeth, Steinke-Lange, Verena, Suerink, Manon, Thibodeau, Stephen, Vos, Yvonne J, Wagner, Anja, Winship, Ingrid, Hes, Frederik J, Vasen, Hans F A, Wijnen, Juul T, Nielsen, Maartje, Win, Aung Ko

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Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders von Redeker, Egbert J W, de Visser, Annette S H, Bergen, Arthur A B, Mannens, Marcel M A M

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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up von Huffnagel, Irene C., Redeker, Egbert J. W., Reneman, Liesbeth, Vaz, Frédéric M., Ferdinandusse, Sacha, Poll-The, Bwee Tien

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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands von Dommering, Charlotte J, Henneman, Lidewij, van der Hout, Annemarie H, Jonker, Marianne A, Tops, Carli M J, van den Ouweland, Ans M W, van der Luijt, Rob B, Mensenkamp, Arjen R, Hogervorst, Frans B L, Redeker, Egbert J W, de Die-Smulders, Christine E M, Moll, Annette C, Meijers-Heijboer, Hanne

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Two major components of synaptonemal complexes are specific for meiotic prophase nuclei von HEYTING, C, DETTMERS, R. J, DIETRICH, A. J. J, REDEKER, E. J. W, VINK, A. C. G

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HIGH COLORECTAL AND LOW ENDOMETRIAL CANCER RISK IN EPCAM DELETION-POSITIVE LYNCH SYNDROME: A COHORT STUDY von Kempers, Marlies JE, Kuiper, Roland P, Ockeloen, Charlotte W, Chappuis, Pierre O, Hutter, Pierre, Rahner, Nils, Schackert, Hans K, Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Büttner, Reinhard, Verwiel, Eugene TP, van Krieken, J. Han, Nagtegaal, Iris D, Goossens, Monique, van der Post, Rachel S., Niessen, Renée C, Sijmons, Rolf H, Kluijt, Irma, Hogervorst, Frans BL, Leter, Edward M, Gille, Johan JP, Aalfs, Cora M, Redeker, Egbert JW, Hes, Frederik J, Tops, Carli MJ, van Nesselrooij, Bernadette PM, van Gijn, Marielle E, García, Encarna B Gómez, Eccles, Diana M, Bunyan, David J, Syngal, Sapna, Stoffel, Elena M, Culver, Julie O, Palomares, Melanie R, Graham, Tracy, Velsher, Lea, Papp, Janos, Oláh, Edith, Chan, Tsun L, Leung, Suet Y, van Kessel, Ad Geurts, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn JL

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Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands von Lombardi, M Paola, Redeker, Egbert Jw, Defesche, Joep C, Kamerling, Sylvia Wa, Trip, Mieke D, Mannens, Marcel Mam, Havekes, Louis M, Kastelein, John Jp

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