Ron Hochstenbach

DR.

20152019

Research output per year

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Research Output

2019

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

2017

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

2016

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Lo-A-Njoe, S., van der Veken, L. T., Vermont, C., Rafael-Croes, L., Keizer, V., Hochstenbach, R., Knoers, N. & van Haelst, M. M., 2016, In : Case reports in genetics. 2016, p. 2861653

Research output: Contribution to journalArticleAcademicpeer-review

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Van Der Crabben, S. N., Hennus, M. P., McGregor, G. A., Ritter, D. I., Nagamani, S. C. S., Wells, O. S., Harakalova, M., Chinn, I. K., Alt, A., Vondrova, L., Hochstenbach, R., Van Montfrans, J. M., Terheggen-Lagro, S. W., Van Lieshout, S., Van Roosmalen, M. J., Renkens, I., Duran, K., Nijman, I. J., Kloosterman, W. P., Hennekam, E. & 10 others, Orange, J. S., Van Hasselt, P. M., Wheeler, D. A., Palecek, J. J., Lehmann, A. R., Oliver, A. W., Pearl, L. H., Plon, S. E., Murray, J. M. & Van Haaften, G., 1 Aug 2016, In : Journal of Clinical Investigation. 126, 8, p. 2881-2892 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias

Giltay, J. C., Klijn, A. J., De Jong, T. P. V. M., Kats, P., Van Breugel, M., Lens, S., Vromans, M., Van Der Veken, L. T. & Hochstenbach, R., 1 Jul 2016, In : Molecular syndromology. 7, 3, p. 153-159 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

2015

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring

De Pagter, M. S., Van Roosmalen, M. J., Baas, A. F., Renkens, I., Duran, K. J., Van Binsbergen, E., Tavakoli-Yaraki, M., Hochstenbach, R., Van Der Veken, L. T., Cuppen, E. & Kloosterman, W. P., 2 Apr 2015, In : American journal of human genetics. 96, 4, p. 651-656 6 p.

Research output: Contribution to journalArticleAcademicpeer-review