Ron Hochstenbach

DR.

20152019

Research output per year

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Network

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  • Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features

    Stolerman, E. S., Francisco, E., Stallworth, J. L., Jones, J. R., Monaghan, K. G., Keller-Ramey, J., Person, R., Wentzensen, I. M., McWalter, K., Keren, B., Heron, B., Nava, C., Heron, D., Kim, K., Burton, B., Al-Musafri, F., O'Grady, L., Sahai, I., Escobar, L. F., Meuwissen, M. & 11 others, Reyniers, E., Kooy, F., Lacassie, Y., Gunay-Aygun, M., Schatz, K. S., Hochstenbach, R., Zwijnenburg, P. J. G., Waisfisz, Q., van Slegtenhorst, M., Mancini, G. M. S. & Louie, R. J., 1 Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1276-1286

    Research output: Contribution to journalArticleAcademicpeer-review

  • Estimates of live birth prevalence of children with Down syndrome in the period 1991–2015 in the Netherlands

    de Graaf, G., Engelen, J. J. M., Gijsbers, A. C. J., Hochstenbach, R., Hoffer, M. J. V., Kooper, A. J. A., Sikkema-Raddatz, B., Srebniak, M. I., van der Kevie-Kersemaekers, A. M. F., van Zutven, L. J. C. M. & Voorhoeve, E., 1 May 2017, In : Journal of Intellectual Disability Research. 61, 5, p. 461-470 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Fading competency of cytogenetic diagnostic laboratories: The alarm bell has started to ring

    Hochstenbach, R., Slunga-Tallberg, A., Devlin, C., Floridia, G., De Alba, M. R., Bhola, S., Rack, K. & Hastings, R., 1 Feb 2017, In : European Journal of Human Genetics. 25, 3, p. 273-274 2 p.

    Research output: Contribution to journalLetterAcademicpeer-review

  • Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

    Middelkamp, S., van Heesch, S., Braat, A. K., de Ligt, J., van Iterson, M., Simonis, M., van Roosmalen, M. J., Kelder, M. J. E., Kruisselbrink, E., Hochstenbach, R., Verbeek, N. E., Ippel, E. F., Adolfs, Y., Pasterkamp, R. J., Kloosterman, W. P., Kuijk, E. W. & Cuppen, E., 26 Jan 2017, In : Genome Medicine. 9, 1, p. 9

    Research output: Contribution to journalArticleAcademicpeer-review

  • The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M. A., Abdul-Rahman, O. A., Aberg, E., Adley, R., Alcaraz-Estrada, S. L., Alkuraya, F. S., An, Y., Anderson, M. A., Antolik, C., Anyane-Yeboa, K., Atkin, J. F. & 129 others, Bartell, T., Bernstein, J. A., Beyer, E., Blumenthal, I., Bongers, E. M. H. F., Brilstra, E. H., Brown, C. W., Brüggenwirth, H. T., Callewaert, B., Chiang, C., Corning, K., Cox, H., Cuppen, E., Currall, B. B., Cushing, T., David, D., Deardorff, M. A., Dheedene, A., D'Hooghe, M., De Vries, B. B. A., Earl, D. L., Ferguson, H. L., Fisher, H., FitzPatrick, D. R., Gerrol, P., Giachino, D., Glessner, J. T., Gliem, T., Grady, M., Graham, B. H., Griffis, C., Gripp, K. W., Gropman, A. L., Hanson-Kahn, A., Harris, D. J., Hayden, M. A., Hill, R., Hochstenbach, R., Hoffman, J. D., Hopkin, R. J., Hubshman, M. W., Innes, A. M., Irons, M., Irving, M., Jacobsen, J. C., Janssens, S., Jewett, T., Johnson, J. P., Jongmans, M. C., Kahler, S. G., Koolen, D. A., Korzelius, J., Kroisel, P. M., Lacassie, Y., Lawless, W., Lemyre, E., Leppig, K., Levin, A. V., Li, H., Li, H., Liao, E. C., Lim, C., Lose, E. J., Lucente, D., MacEra, M. J., Manavalan, P., Mandrile, G., Marcelis, C. L., Margolin, L., Mason, T., Masser-Frye, D., McClellan, M. W., Zepeda Mendoza, C. J., Menten, B., Middelkamp, S., Mikami, L. R., Moe, E., Mohammed, S., Mononen, T., Mortenson, M. E., Moya, G., Nieuwint, A. W., Ordulu, Z., Parkash, S., Pauker, S. P., Pereira, S., Perrin, D., Phelan, K., Piña Aguilar, R. E., Poddighe, P. J., Pregno, G., Raskin, S., Reis, L., Rhead, W., Rita, D., Renkens, I., Roelens, F., Ruliera, J., Rump, P., Schilit, S. L. P., Shaheen, R., Sparkes, R., Spiegel, E., Stevens, B., Stone, M. R., Tagoe, J., Thakuria, J. V., Van Bon, B. W., Van De Kamp, J., Van Der Burgt, I., Van Essen, T., Van Ravenswaaij-Arts, C. M., Van Roosmalen, M. J., Vergult, S., Volker-Touw, C. M. L., Warburton, D. P., Waterman, M. J., Wiley, S., Wilson, A., Yerena-De Vega, M. D. L. C. A., Zori, R. T., Levy, B., Brunner, H. G., De Leeuw, N., Kloosterman, W. P., Thorland, E. C., Morton, C. C., Gusella, J. F. & Talkowski, M. E., 1 Jan 2017, In : Nature Genetics. 49, 1, p. 36-45 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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