Ron Hochstenbach

Research output

Research output per year 2015 2016 2017 2021 2021

• 8 Article
• 2 Review article
• 1 Letter

Research output per year

Research output per year

Search results

• 2021

  Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories

  Hochstenbach, PFR., Hastings, R. J. & Liehr, T., Apr 2021, In: European Journal of Human Genetics. 29, 4, p. 541-552 12 p., PMID: 33311710.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access

• Prevalence and Phenotypic Impact of Robertsonian Translocations

  Hochstenbach, PFR. & Poot, M., 2021, In: Molecular syndromology. 12, 1, p. 1-11 11 p., PMID: 33776621.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
• 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 othersReyniers, 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 journal › Article › Academic › peer-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 journal › Article › Academic › peer-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 journal › Letter › Academic › peer-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 journal › Article › Academic › peer-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 othersBartell, 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 journal › Article › Academic › peer-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 journal › Article › Academic › peer-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 othersOrange, 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 journal › Article › Academic › peer-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 journal › Article › Academic › peer-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 journal › Article › Academic › peer-review