NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A.J.M, van Kaam, K.J, van de Kamp, J.M, Kempers, M, Krapels, I.P.C, Kroes, H.Y, Loeys, B, Salemink, S, Stumpel, C.T.R.M, Verhoeven, V.J.M, Wijnands-van den Berg, E, Cobben, J.M, van Tintelen, J.P, Weiss, M.M, Houweling, A.C, Maugeri, A
Published in European journal of medical genetics (01.09.2017)
Published in European journal of medical genetics (01.09.2017)
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Journal Article
A de novo mutation in ZMYND11 , a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability
Cobben, J.M, Weiss, M.M, van Dijk, F.S, De Reuver, R, de Kruiff, C, Pondaag, W, Hennekam, R.C, Yntema, H.G
Published in European journal of medical genetics (01.11.2014)
Published in European journal of medical genetics (01.11.2014)
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Journal Article
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E, Breen, Catherine, Oegema, Renske, Weiss, Marjan Mm, Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A, Boon, Elles Mj, Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T, Scarano, Maria, Schaefer, G Bradley, Brooks, Susan S, Hughes, Susan Starling, van Gassen, K L I, van Hagen, Johanna M, Pandita, Tej K, Agrawal, Pankaj B, Campeau, Philippe M, Yang, Xiang-Jiao
Published in The Journal of clinical investigation (01.03.2020)
Published in The Journal of clinical investigation (01.03.2020)
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Journal Article
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study
Heesterbeek, Catharina J., Tjan-Heijnen, Vivianne C.G., Heimovaara, Joosje H., Lenaerts, Liesbeth, Lok, Christianne, Vriens, Ingeborg J.H., Van Opstal, Diane, Boon, Elles M.J., Sie, Daoud, de Die-Smulders, Christine E.M., Amant, Frédéric, Macville, Merryn V.E., Sistermans, E.A., Henneman, L., Polstra, A., Voorhoeve, E., Zelderen-Bohla, S.L., Boon, E.M.J., Lombardi, M.P.R., Louwerens-Zintel, C., Smit, M., van Maarle, M.C., Tan-Sindhunata, M.B., van der Meij, K., Meij, H., Bax, C., Pajkrt, E., Linskens, I.H., Martin, L., Gitsels-van der Wal, J.T., Galjaard, R.J.H., Van Opstal, D., Srebniak, M.I., Jehee, F.M. Sarquis, Hollink, I.H.I.M., Sleutels, F., de Valk, W., Deelen, W.H., Joosten, A.M.S., Diderich, K.E.M., Redeker, M.E., Go, A.T.J.I., Knapen, M.F.C.M., Galjaard, S., Prinsen, A.K.E., Braat, A.P.G., Macville, M.V.E., Stevens, S.J.C., van der Wijngaard, A., Houben, L.H., van Esch-Lennarts, M.A.A., Hamers, L., Jetten, A.G.P., Ghesquiere, S.A.I., Koning, B. de, ZamaniEsteki, M., Heesterbeek, C.J., de Die-Smulders, C.E.M., Brunner, H., Pieters, M.J., Coumans, A.B.C., Smeets, D.F.C.M., Faas, B.H.W., Westra, D., Weiss, M.M., Derks-Prinsen, I., Feenstra, I., van Rij, M., Sikkel, E., Hoffer, M.J.V., Hollander, N.S. den, Verweij, E.J.T., Haak, M.C., Suijkerbuijk, R.F., Sikkema-Raddatz, B., van Langen, I.M., Bouman, K., Duin, L.K., Schuring-Blom, G.H., Lichtenbelt, K.D., Bekker, M.N., van der Ven, A.J.E.M., van Vliet-Lachotzki, E., Pot, J., van ‘t Padje, S., Bakker, I.M.C., Bradley, E.J.
Published in The Lancet regional health. Europe (01.10.2024)
Published in The Lancet regional health. Europe (01.10.2024)
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Journal Article
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly
Aliferis, K., Marsal, C., Pelletier, V., Doray, B., Weiss, M.M., Tops, C.M.J., Speeg-Schatz, C., Lesnik, S.A.J., Dollfus, H.
Published in Ophthalmic genetics (01.12.2010)
Published in Ophthalmic genetics (01.12.2010)
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Journal Article
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients
Paff, Tamara, Kooi, Irsan E., Moutaouakil, Youssef, Riesebos, Elise, Sistermans, Erik A., Daniels, Hans J. M. A., Weiss, Janneke M. M., Niessen, Hans H. W. M., Haarman, Eric G., Pals, Gerard, Micha, Dimitra
Published in Human mutation (01.05.2018)
Published in Human mutation (01.05.2018)
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Journal Article
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
Published in American journal of human genetics (07.04.2022)
Published in American journal of human genetics (07.04.2022)
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Journal Article
Asymptomatic carriers of a single mutant Parkin allele show underactivity of the left rostral putamen in the context of a visuospatial response conflict
van der Vegt, J.P.M, Weiss, M.M, Bloem, B.R, Binkofski, F, Klein, C, Siebner, H
Published in Aktuelle Neurologie (02.09.2008)
Published in Aktuelle Neurologie (02.09.2008)
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Conference Proceeding
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy
Otten, E., Lekanne dit Deprez, R. H., Weiss, M. M., van Slegtenhorst, M., Joosten, M., van der Smagt, J. J., de Jonge, N., Kerstjens-Frederikse, W. S., Roofthooft, M. T. R., Balk, A. H. M. M., van den Berg, M. P., Ruiter, J. S., van Tintelen, J. P.
Published in Netherlands heart journal (01.10.2010)
Published in Netherlands heart journal (01.10.2010)
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Journal Article
Reaping the benefits of innovative IT: the long and winding road
Massey, A.P., Montoya-Weiss, M.M., Brown, S.A.
Published in IEEE transactions on engineering management (01.08.2001)
Published in IEEE transactions on engineering management (01.08.2001)
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Journal Article
Zunahme der effektiven Konnektivität zwischen den frontalen Augenfeldern und dem linken posterioren intraparietalen Sulcus während der mentalen Rotation von Zahlen und Buchstaben
Weiss, M.M., Wolbers, T., Münchau, A., Büchel, C., Peller, M., Siebner, H.R.
Published in Aktuelle Neurologie (27.09.2006)
Published in Aktuelle Neurologie (27.09.2006)
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Conference Proceeding
Kompensatorische Aktivierung der dorsalen pontocerebellären Schleife bei Patienten mit Schreibkrampf
Peller, M., Zeuner, K.E., Münchau, A., Weiss, M.M., Knutzen, A., Hallett, M., Deuschl, G., Siebner, H.R.
Published in Aktuelle Neurologie (27.09.2006)
Published in Aktuelle Neurologie (27.09.2006)
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Conference Proceeding
Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome
Mazzeu, Juliana F., Krepischi-Santos, Ana Cristina, Rosenberg, Carla, Szuhai, Karoly, Knijnenburg, Jeroen, Weiss, Janneke M.M., Kerkis, Irina, Mustacchi, Zan, Colin, Guilherme, Mombach, Rômulo, Pavanello, Rita de Cássia M., Otto, Paulo A., Vianna-Morgante, Angela M.
Published in American journal of medical genetics. Part A (01.08.2007)
Published in American journal of medical genetics. Part A (01.08.2007)
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Journal Article
Managing technological change when change is mandatory
Massey, A.P., Montoya-Weiss, M.M., Brown, S.A.
Published in Conference proceedings - IEEE International Conference on Systems, Man, and Cybernetics (1998)
Published in Conference proceedings - IEEE International Conference on Systems, Man, and Cybernetics (1998)
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Conference Proceeding
Journal Article