Disease gene discovery in male infertility: past, present and future von Xavier, M. J., Salas-Huetos, A., Oud, M. S., Aston, K. I., Veltman, J. A.

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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability von Riazuddin, S, Hussain, M, Razzaq, A, Iqbal, Z, Shahzad, M, Polla, D L, Song, Y, van Beusekom, E, Khan, A A, Tomas-Roca, L, Rashid, M, Zahoor, M Y, Wissink-Lindhout, W M, Basra, M A R, Ansar, M, Agha, Z, van Heeswijk, K, Rasheed, F, Van de Vorst, M, Veltman, J A, Gilissen, C, Akram, J, Kleefstra, T, Assir, M Z, Grozeva, D, Carss, K, Raymond, F L, O'Connor, T D, Riazuddin, S A, Khan, S N, Ahmed, Z M, de Brouwer, A P M, van Bokhoven, H, Riazuddin, S

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene von Jongmans, M C J, Admiraal, R J, van der Donk, K P, Vissers, L E L M, Baas, A F, Kapusta, L, van Hagen, J M, Donnai, D, de Ravel, T J, Veltman, J A, Geurts van Kessel, A, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A

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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy von Friedman, J I, Vrijenhoek, T, Markx, S, Janssen, I M, van der Vliet, W A, Faas, B H W, Knoers, N V, Cahn, W, Kahn, R S, Edelmann, L, Davis, K L, Silverman, J M, Brunner, H G, van Kessel, A Geurts, Wijmenga, C, Ophoff, R A, Veltman, J A

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De Novo Mutations Reflect Development and Aging of the Human Germline von Goldmann, J.M., Veltman, J.A., Gilissen, C.

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Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly von van Bon, BWM, Hoischen, A, Hehir-Kwa, J, de Brouwer, APM, Ruivenkamp, C, Gijsbers, ACJ, Marcelis, CL, de Leeuw, N, Veltman, JA, Brunner, HG, de Vries, BBA

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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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Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability von Riazuddin, S., Hussain, M., Razzaq, A., Iqbal, Z., Shahzad, M., Polla, D. L., Song, Y., van Beusekom, E., Khan, A. A., Tomas-Roca, L., Rashid, M., Zahoor, M. Y., Wissink-Lindhout, W. M., Basra, M. A. R., Ansar, M., Agha, Z., van Heeswijk, K., Rasheed, F., Van de Vorst, M., Veltman, J. A., Gilissen, C., Akram, J., Kleefstra, T., Assir, M. Z., Grozeva, D., Carss, K., Raymond, F. L., O’Connor, T. D., Riazuddin, S. A., Khan, S. N., Ahmed, Z. M., de Brouwer, A. P. M., van Bokhoven, H., Riazuddin, S.

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Pathogenic or not? Assessing the clinical relevance of copy number variants von Hehir-Kwa, JY, Pfundt, R, Veltman, JA, de Leeuw, N

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Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs von Krabbenborg, L., Schieving, J., Kleefstra, T., Vissers, L.E.L.M., Willemsen, M.A., Veltman, J.A., van der Burg, S.

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Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress von Sie, A.S., Prins, J.B., van Zelst-Stams, W.A.G., Veltman, J.A., Feenstra, I., Hoogerbrugge, N.

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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH von Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander-Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G

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Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease von Plantinga, TS, Arts, P, Knarren, GH, Mulder, AH, Wakelkamp, IM, Hermus, AR, Joosten, LA, Netea, MG, Bisschop, PH, Herder, WW, Beijers, HJ, Bruin, IJ, Gilissen, C, Veltman, JA, Hoischen, A, Smit, JW, Netea‐Maier, RT

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Physiological workload reactions to increasing levels of task difficulty von VELTMAN, J. A., GAILLARD, A. W. K.

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The CASPR2 cell adhesion molecule functions as a tumor suppressor gene in glioma von Bralten, L B C, Gravendeel, A M, Kloosterhof, N K, Sacchetti, A, Vrijenhoek, T, Veltman, J A, van den Bent, M J, Kros, J M, Hoogenraad, C C, Sillevis Smitt, P A E, French, P J

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Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia von Oud, M S, Okutman, Ö, Hendricks, L A J, de Vries, P F, Houston, B J, Vissers, L E L M, O’Bryan, M K, Ramos, L, Chemes, H E, Viville, S, Veltman, J A

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Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders von Oud, M. S., Houston, B. J., Volozonoka, L., Mastrorosa, F. K., Holt, G. S., Alobaidi, B. K. S., deVries, P. F., Astuti, G., Ramos, L., Mclachlan, R., O'Bryan, M. K., Veltman, J. A., Chemes, H. E., Sheth, H.

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Lack of evidence for a role of PIWIL1 variants in human male infertility von Oud, M.S., Volozonoka, L., Friedrich, C., Kliesch, S., Nagirnaja, L., Gilissen, C., O’Bryan, M.K., McLachlan, R.I., Aston, K.I., Tüttelmann, F., Conrad, D.F., Veltman, J.A.

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De novo mutations in children born after medical assisted reproduction von Smits, R M, Xavier, M J, Oud, M S, Astuti, G D N, Meijerink, A M, de Vries, P F, Holt, G S, Alobaidi, B K S, Batty, L E, Khazeeva, G, Sablauskas, K, Vissers, L E L M, Gilissen, C, Fleischer, K, Braat, D D M, Ramos, L, Veltman, J A

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Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis von Vissers, Lisenka E L M, de Vries, Bert B A, Veltman, Joris A

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