De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome von Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F, Newbury-Ecob, Ruth, Kjaergaard, Susanne, Goodship, Judith, McGowan, Ruth, Bartholdi, Deborah, Rauch, Anita, Peippo, Maarit, Cobben, Jan M, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Veltman, Joris A, Brunner, Han G, de Vries, Bert B B A

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De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum von Jansen, S., Kleefstra, T., Willemsen, M.H., de Vries, P., Pfundt, R., Hehir-Kwa, J.Y., Gilissen, C., Veltman, J.A., de Vries, B.B.A., Vissers, L.E.L.M.

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ARID1B-related disorder in 87 adults: Natural history and self-sustainability von van der Sluijs, P.J., Gösgens, M., Dingemans, A.J.M., Striano, P., Riva, A., Mignot, C., Faudet, A., Vasileiou, G., Walther, M., Schrier Vergano, S.A., Alders, M., Alkuraya, F.S., Alorainy, I., Alsaif, H.S., Anderlid, B., Bache, I., van Beek, I., Blanluet, M., van Bon, B.W., Brunet, T., Brunner, H., Carriero, M.L., Charles, P., Chatron, N., Coccia, E., Dubourg, C., Earl, R.K., Eichler, E.E., Faivre, L., Foulds, N., Graziano, C., Guerrot, A.M., Hashem, M.O., Heide, S., Heron, D., Hickey, S.E., Hopman, S.M.J., Kattentidt-Mouravieva, A., Kerkhof, J., Klein Wassink-Ruiter, J.S., Kurtz-Nelson, E.C., Kušíková, K., Kvarnung, M., Lecoquierre, F., Leszinski, G.S., Loberti, L., Magoulas, P.L., Mari, F., Maystadt, I., Merla, G., Milunsky, J.M., Moortgat, S., Nicolas, G., Leary, M.O.’, Odent, S., Ozmore, J.R., Parbhoo, K., Pfundt, R., Piccione, M., Pinto, A.M., Popp, B., Putoux, A., Rehm, H.L., Reis, A., Renieri, A., Rosenfeld, J.A., Rossi, M., Salzano, E., Saugier-Veber, P., Seri, M., Severi, G., Sonmez, F.M., Strobl-Wildemann, G., Stuurman, K.E., Uctepe, E., Van Esch, H., Vitetta, G., de Vries, B.B.A., Wahl, D., Wang, T., Zacher, P., Heitink, K.R., Ropers, F.G., Steenbeek, D., Rybak, T., Santen, G.W.E.

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID von van Bon, B W M, Coe, B P, Bernier, R, Green, C, Gerdts, J, Witherspoon, K, Kleefstra, T, Willemsen, M H, Kumar, R, Bosco, P, Fichera, M, Li, D, Amaral, D, Cristofoli, F, Peeters, H, Haan, E, Romano, C, Mefford, H C, Scheffer, I, Gecz, J, de Vries, B B A, Eichler, E E

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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females von Polla, D.L., Bhoj, E.J., Verheij, J.B.G.M., Wassink-Ruiter, J.S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A.T. Vulto-van, Pfundt, R., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C.T.R.M., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., de Vries, B.B.A., Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A.P.M.

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome von van Bon, B W M, Mefford, H C, Menten, B, Koolen, D A, Sharp, A J, Nillesen, W M, Innis, J W, de Ravel, T J L, Mercer, C L, Fichera, M, Stewart, H, Connell, L E, Õunap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M A, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E M, Baker, C, Finnemore, P, Huang, S, Maloney, V K, Crolla, J A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, J P, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C G, Oostra, A, Speleman, F, Pereira, A C, Kurg, A, Willatt, L, Knight, S J L, Vermeesch, J R, Romano, C, Barber, J C, Mortier, G, Pérez-Jurado, L A, Kooy, F, Brunner, H G, Eichler, E E, Kleefstra, T, de Vries, B B A

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De novo and biallelic DEAF1 variants cause a phenotypic spectrum von Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P.M., de Vries, Bert B.A., Vulto-vanSilfhout, Anneke T.

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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review von van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.

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Klinefelter’s Syndrome and Prader-Willi Syndrome: A Rare Combination von Verhoeven, W.M.A., de Vries, B.B.A., Duffels, S.J.H., Egger, J.I.M., Noordam, C., Tuinier, S.

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Telomeres: a diagnosis at the end of the chromosomes von De Vries, B B A, Winter, R, Schinzel, A, van Ravenswaaij-Arts, C

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID von van Bon, B.W.M, Coe, B.P, Bernier, R, Green, C, Gerdts, J, Witherspoon, K, Kleefstra, T, Willemsen, M.H, Kumar, R, Bosco, P, Fichera, M, Li, D, Amaral, D, Cristofoli, Francesca, Peeters, Hilde, Haan, E, Romano, C, Mefford, H.C, Scheffer, I, Gecz, J, de Vries, B.B.A, Eichler, E.E

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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities von Feenstra, I., Fang, J., Koolen, D.A., Siezen, A., Evans, C., Winter, R.M., Lees, M.M., Riegel, M., de Vries, B.B.A., Van Ravenswaaij, C.M.A., Schinzel, A.

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A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome von Vulto-van Silfhout, A.T., de Brouwer, A.P.M., de Leeuw, N., Obihara, C.C., Brunner, H.G., de Vries, B.B.A.

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Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals von Dingemans, A.J.M., Jansen, S., Reeuwijk, J. van, Leeuw, N. de, Pfundt, R., Schuurs-Hoeijmakers, J., Bon, B.W. van, Marcelis, C., Ockeloen, C.W., Willemsen, M., Sluijs, P.J. van der, Santen, G.W.E., Kooy, R.F., Vulto-van Silfhout, A.T., Kleefstra, T., Koolen, D.A., Vissers, L.E.L.M., Vries, B.B.A. de

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome von van Bon, B.W.M, Mefford, H.C, Menten, B, Koolen, D.A, Sharp, A.J, Nillesen, W.M, Innis, J.W, de Ravel de l'Argentière, Thomy, Mercer, C.L, Fichera, M, Stewart, H, Connell, L.E, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M.A, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E.M, Baker, C, Finnemore, P, Huang, S, Maloney, V.K, Crolla, J.A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, Jean-Pierre, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C.G, Oostra, A, Speleman, F, Pereira, A.C, Kurg, A, Willatt, L, Knight, S.J.L, Vermeesch, Joris, Romano, C, Barber, J.C, Mortier, G, Pérez-Jurado, L.A, Kooy, F, Brunner, H.G, Eichler, E.E, Kleefstra, T, de Vries, B.B.A

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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework von Dingemans, A.J.M., Hinne, M., Truijen, K.M.G., Goltstein, L., Reeuwijk, J. van, Leeuw, N. de, Schuurs-Hoeijmakers, J., Pfundt, R., Diets, I.J., Hoed, J. den, Boer, E. de, Spek, J. van der, Jansen, S., Bon, B.W. van, Jonis, N., Ockeloen, C.W., Silfhout, A.V.V.T., Kleefstra, T., Koolen, D.A., Campeau, P.M., Palmer, E.E., Esch, H. van, Lyon, G.J., Alkuraya, F.S., Rauch, A., Marom, R., Baralle, D., Sluijs, P.J. van der, Santen, G.W.E., Kooy, R.F., Gerven, M.A.J. van, Vissers, L.E.L.M., Vries, B.B.A. de

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FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics von de Vries, B B A, Severijnen, L-A, Jacobs, A, Olmer, R, Halley, D J J, Oostra, B A, Willemsen, R

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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant von Boer, E. de, Yaldiz, B., Denomme-Pichon, A.S., Matalonga, L., Laurie, S., Steyaert, W., Reuver, R. de, Gilissen, C., Kwint, M., Pfundt, R., Verloes, A., Willemsen, M.A.A.P., Vries, B.B.A. de, Vitobello, A., Kleefstra, T., Vissers, L.E.L.M.

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De novo variants in ATP2B1 lead to neurodevelopmental delay von Rahimi, M.J., Urban, N., Wegler, M., Sticht, H., Schaefer, M., Popp, B., Gaunitz, F., Morleo, M., Nigro, V., Maitz, S., Mancini, G.M.S., Ruivenkamp, C., Suk, E.K., Bartolomaeus, T., Merkenschlager, A., Koboldt, D., Bartholomew, D., Stegmann, A.P.A., Sinnema, M., Duynisveld, I., Salvarinova, R., Race, S., Vries, B.B.A. de, Trimouille, A., Naudion, S., Marom, D., Hamiel, U., Henig, N., Demurger, F., Rahner, N., Bartels, E., Hamm, J.A., Putnam, A.M., Person, R., Abou Jamra, R., Oppermann, H.

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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria von Sluijs, P.J. van der, Alders, M., Dingemans, A.J.M., Parbhoo, K., Bon, B.W. van, Dempsey, J.C., Doherty, D., Dunnen, J.T. den, Gerkes, E.H., Milller, I.M., Moortgat, S., Regier, D.S., Ruivenkamp, C.A.L., Schmalz, B., Smol, T., Stuurman, K.E., Vincent-Delorme, C., Vries, B.B.A. de, Sadikovic, B., Hickey, S.E., Rosenfeld, J.A., Maystadt, I., Santen, G.W.E.

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