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Dive into the research topics where Ron Hochstenbach is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
van der Laan, L., Silva, A., Kleinendorst, L., Rooney, K., Haghshenas, S., Lauffer, P., Alanay, Y., Bhai, P., Brusco, A., de Munnik, S., de Vries, B. B. A., Vega, A. D., Engelen, M., Herkert, J. C., Hochstenbach, R., Hopman, S., Kant, S. G., Kira, R., Kato, M. & Keren, B. & 24 others, , 9 Jan 2025, In: Human Genetics and Genomics Advances. 6, 1, 100380.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile39 Downloads (Pure) -
FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype
Arduç, A., Zuurbier, L. C., van Maarle, M. C., Lauffer, P., Verbeke, J. I. M. L., Bax, C. J., van Tuyl, M., Hochstenbach, R. & Pajkrt, E., 2025, (E-pub ahead of print) In: Clinical genetics.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile29 Downloads (Pure) -
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
van der Laan, L., Lauffer, P., Rooney, K., Silva, A., Haghshenas, S., Relator, R., Levy, M. A., Trajkova, S., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Baysal, Ö., Zweier, C., Palomares-Bralo, M., Fischer, J., Szakszon, K., Faivre, L., Piton, A. & Mesman, S. & 14 others, , 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 100289.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile27 Downloads (Pure) -
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
Rooney, K., van der Laan, L., Trajkova, S., Haghshenas, S., Relator, R., Lauffer, P., Vos, N., Levy, M. A., Brunetti-Pierri, N., Terrone, G., Mignot, C., Keren, B., de Villemeur, T. B., Volker-Touw, C. M. L., Verbeek, N., van der Smagt, J. J., Oegema, R., Brusco, A., Ferrero, G. B. & Misra-Isrie, M. & 6 others, , 1 Aug 2023, In: Genetics in medicine. 25, 8, p. 100871 100871.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile28 Downloads (Pure) -
Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories
Hochstenbach, P., 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 AccessFile13 Downloads (Pure)