Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL von Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, Belzen, Martine J., Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.

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High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer von Diets, Illja J, Waanders, Esmé, Ligtenberg, Marjolijn J, van Bladel, Diede A G, Kamping, Eveline J, Hoogerbrugge, Peter M, Hopman, Saskia, Olderode-Berends, Maran J, Gerkes, Erica H, Koolen, David A, Marcelis, Carlo, Santen, Gijs W, van Belzen, Martine J, Mordaunt, Dylan, McGregor, Lesley, Thompson, Elizabeth, Kattamis, Antonis, Pastorczak, Agata, Mlynarski, Wojciech, Ilencikova, Denisa, van Silfhout, Anneke Vulto, Gardeitchik, Thatjana, de Bont, Eveline S, Loeffen, Jan, Wagner, Anja, Mensenkamp, Arjen R, Kuiper, Roland P, Hoogerbrugge, Nicoline, Jongmans, Marjolijn C

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EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease von Losekoot, Monique, van Belzen, Martine J, Seneca, Sara, Bauer, Peter, Stenhouse, Susan A R, Barton, David E

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Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma von van den Oever, Jessica M. E., Bijlsma, Emilia K., Feenstra, Ilse, Muntjewerff, Nienke, Mathijssen, Inge B., Bakker, Egbert, van Belzen, Martine J., Boon, Elles M. J.

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Two novel cases expanding the phenotype of SETD2‐related overgrowth syndrome von van Rij, Maartje C., Hollink, Iris H. I. M., Terhal, Paulien Anna, Kant, Sarina G., Ruivenkamp, Claudia, van Haeringen, Arie, Kievit, J. Anneke, van Belzen, Martine J.

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CTLA4+49 A/G and CT60 polymorphisms in Dutch coeliac disease patients von VAN BELZEN, Martine J, MULDER, Chris J. J, ZHERNAKOVA, Alexandra, PEARSON, Peter L, HOUWEN, Roderick H. J, WIJMENGA, Cisca

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Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes von Stuitje, Geerte, van Belzen, Martine J, Gardiner, Sarah L, van Roon-Mom, Willeke M C, Boogaard, Merel W, Tabrizi, Sarah J, Roos, Raymund A C, Aziz, N A

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Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease von Gardiner, Sarah L., Harder, Aster V.E., Campman, Yvonne J.M., Trompet, Stella, Gussekloo, Jacobijn, van Belzen, Martine J., Boogaard, Merel W., Roos, Raymund A.C., Jansen, Iris E., Pijnenburg, Yolande A.L., Scheltens, Philip, van der Flier, Wiesje M., Aziz, N. Ahmad

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Huntingtin gene repeat size variations affect risk of lifetime depression von Gardiner, Sarah L., van Belzen, Martine J., Boogaard, Merel W., van Roon-Mom, Willeke M. C., Rozing, Maarten P., van Hemert, Albert M., Smit, Johannes H., Beekman, Aartjan T. F., van Grootheest, Gerard, Schoevers, Robert A., Oude Voshaar, Richard C., Roos, Raymund A. C., Comijs, Hannie C., Penninx, Brenda W. J. H., van der Mast, Roos C., Aziz, N. Ahmad

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CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype von Menke, Leonie A., van Belzen, Martine J., Alders, Marielle, Cristofoli, Francesca, Ehmke, Nadja, Fergelot, Patricia, Foster, Alison, Gerkes, Erica H., Hoffer, Mariëtte J. V., Horn, Denise, Kant, Sarina G., Lacombe, Didier, Leon, Eyby, Maas, Saskia M., Melis, Daniela, Muto, Valentina, Park, Soo-Mi, Peeters, Hilde, Peters, Dorien J. M., Pfundt, Rolph, van Ravenswaaij-Arts, Conny M. A., Tartaglia, Marco, Hennekam, Raoul C. M.

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Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences von Quarrell, Oliver W., Clarke, Angus J., Compton, Cecilia, de Die‐Smulders, Christine E.M., Fryer, Alan, Jenkins, Sian, Lahiri, Nayana, MacLeod, Rhona, Miedzybrodzka, Zosia, Morrison, Patrick J., Musgrave, Hannah, O'Driscoll, Mary, Strong, Mark, van Belzen, Martine J., Vermeer, Sascha, Verschuuren‐Bemelmans, Corien C., Bijlsma, Emilia K.

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Making (anti-) sense out of huntingtin levels in Huntington disease von Evers, Melvin M, Schut, Menno H, Pepers, Barry A, Atalar, Melek, van Belzen, Martine J, Faull, Richard Lm, Roos, Raymund Ac, van Roon-Mom, Willeke M C

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A new mutation for Huntington disease following maternal transmission of an intermediate allele von Semaka, Alicia, Kay, Chris, Belfroid, René D.M, Bijlsma, Emilia K, Losekoot, Monique, van Langen, Irene M, van Maarle, Merel C, Oosterloo, Mayke, Hayden, Michael R, van Belzen, Martine J

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A major non-HLA locus in celiac disease maps to chromosome 19 von Van Belzen, Martine J, Meijer, Jos W.R, Sandkuijl, Lodewijk A, Bardoel, Alfons F.J, Mulder, Chris J.J, Pearson, Peter L, Houwen, Roderick H.J, Wijmenga, Cisca

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The interferon gamma gene in celiac disease: augmented expression correlates with tissue damage but no evidence for genetic susceptibility von Wapenaar, Martin C., van Belzen, Martine J., Fransen, Justin H., Fariña Sarasqueta, Aranzazu, Houwen, Roderick H.J., Meijer, Jos W.R., Mulder, Chris J.J., Wijmenga, Cisca

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Reply von Van Belzen, Martine J., Houwen, Roderick H.J., Wijmenga, Cisca, Mulder, Chris J.

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A major non-HLA locus in celiac disease maps to chromosome 191 1This study is dedicated to the memory of Lodewijk Sandkuijl (1953–2002), who died shortly after its completion. He w... von Van Belzen, Martine J, Meijer, Jos W.R, Sandkuijl, Lodewijk A, Bardoel, Alfons F.J, Mulder, Chris J.J, Pearson, Peter L, Houwen, Roderick H.J, Wijmenga, Cisca

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A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia von VAN BELZEN, M. J, HIEL, J. A. P, WEEMAES, C. M. R, GABREËLS, F. J. M, VAN ENGELEN, B. G. M, SMEETS, D. F. C. M, VAN DEN HEUVEL, L. P. W. J

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Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations von Fergelot, Patricia, Van Belzen, Martine, Van Gils, Julien, Afenjar, Alexandra, Armour, Christine M., Arveiler, Benoit, Beets, Lex, Burglen, Lydie, Busa, Tiffany, Collet, Marie, Deforges, Julie, de Vries, Bert B. A., Dominguez Garrido, Elena, Dorison, Nathalie, Dupont, Juliette, Francannet, Christine, Garciá-Minaúr, Sixto, Gabau Vila, Elisabeth, Gebre-Medhin, Samuel, Gener Querol, Blanca, Geneviève, David, Gérard, Marion, Gervasini, Cristina Giovanna, Goldenberg, Alice, Josifova, Dragana, Lachlan, Katherine, Maas, Saskia, Maranda, Bruno, Moilanen, Jukka S., Nordgren, Ann, Parent, Philippe, Rankin, Julia, Reardon, Willie, Rio, Marlène, Roume, Joëlle, Shaw, Adam, Smigiel, Robert, Sojo, Amaia, Solomon, Benjamin, Stembalska, Agnieszka, Stumpel, Constance, Suarez, Francisco, Terhal, Paulien, Thomas, Simon, Touraine, Renaud, Verloes, Alain, Vincent-Delorme, Catherine, Wincent, Josephine, Peters, Dorien J. M., Bartsch, Oliver, Larizza, Lidia, Lacombe, Didier, Hennekam, Raoul C.

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CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome von Wincent, Josephine, Luthman, Aron, Belzen, Martine, Lans, Christian, Albert, Johanna, Nordgren, Ann, Anderlid, Britt‐Marie

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