drs. Y.J. Vos

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E-mail:
y.j.vos umcg.nl

Research

  1. 2020
  2. Wijnen, I. G. M., Veenstra-Knol, H. E., Vansenne, F., Gerkes, E. H., de Koning, T., Vos, Y. J., Tijssen, M. A. J., Sival, D., Darin, N., Vanhoutte, E. K., Oosterloo, M., Pennings, M., van de Warrenburg, B. P., & Kamsteeg, E-J. (2020). De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability. EJHG, 28(6), 763-769. https://doi.org/10.1038/s41431-020-0600-5
  3. Terlouw, D., Suerink, M., Singh, S. S., Gille, H. J. J. P., Hes, F. J., Langers, A. M. J., Morreau, H., Vasen, H. F. A., Vos, Y. J., van Wezel, T., Tops, C. M., ten Broeke, S. W., & Nielsen, M. (2020). Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy. European Journal of Human Genetics, 28(2), 222-230. https://doi.org/10.1038/s41431-019-0509-z
  4. 2019
  5. Suerink, M., Rodriguez-Girondo, M., van der Klift, H. M., Colas, C., Brugieres, L., Lavoine, N., Jongmans, M., Capella Munar, G., Evans, D. G., Farrell, M. P., Genuardi, M., Goldberg, Y., Gomez-Garcia, E., Heinimann, K., Hoell, J., Aretz, S., Jasperson, K. W., Kedar, I., Modi, M. B., ... Nielsen, M. (2019). An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome. Genetics in Medicine, 21(12), 2706-2712. https://doi.org/10.1038/s41436-019-0577-z
  6. Kerstjens-Frederikse, W. S., van der Hout, A. H., Vos, Y. J., Dijkhuizen, T., Verheij, J. B. G. M., van Langen, I. M., Sikkema-Raddatz, B., de Groot, M. J., Drok, H. H. J., Kinds, R., Beunders, G., Zonneveld-Huijssoon, E., Herkert, J. C., Vansenne, F., Wassink-Ruiter, J. S. K., Gerkes, E., van der Velde, K. J., Swertz, M. A., Sinke, R. J., & van Diemen, C. C. (2019). Rapid whole exome sequencing in critically ill children. European Journal of Human Genetics, 27, 508-509.
  7. Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L. A. A., Brilstra, E. H., Dijkhuizen, T., Vos, Y. J., van der Kevie-Kersemaekers, A-M. F., Knijnenburg, J., de Leeuw, N., van Minkelen, R., Ruivenkamp, C. A. L., Stegmann, A. P. A., Brouwer, O. F., & van Ravenswaaij-Arts, C. M. A. (2019). PRRT2-related phenotypes in patients with a 16p11.2 deletion. European journal of medical genetics, 62(4), 265-269. https://doi.org/10.1016/j.ejmg.2018.08.002
  8. GRIN2A Study Grp, Strehlow, V., Heyne, H. O., Vlaskamp, D. R. M., Marwick, K. F. M., Rudolf, G., De Bellescize, J., Biskup, S., Brilstra, E. H., Brouwer, O. F., Callenbach, P. M. C., Hentschel, J., Hirsch, E., Kind, P. C., Mignot, C., Platzer, K., Rump, P., Skehel, P. A., Wyllie, D. J. A., ... Lemke, J. R. (2019). GRIN2A-related disorders: genotype and functional consequence predict phenotype. Brain, 142(1), 80-92. https://doi.org/10.1093/brain/awy304
  9. 2018
  10. ten Broeke, S. W., van der Klift, H. M., Tops, C. M. J., Aretz, S., Bernstein, I., Buchanan, D. D., de la Chapelle, A., Capella, G., Clendenning, M., Engel, C., Gallinger, S., Gomez Garcia, E., Figueiredo, J. C., Haile, R., Hampel, H. L., Hopper, J. L., Hoogerbrugge, N., Doeberitz, M. V. K., Le Marchand, L., ... Win, A. K. (2018). Cancer Risks for PMS2-Associated Lynch Syndrome. Journal of Clinical Oncology, 36(29), 2961-2968. https://doi.org/10.1200/JCO.2018.78.4777
  11. ten Broeke, S. W., Elsayed, F. A., Pagan, L., Olderode-Berends, M. J. W., Garcia, E. G., Gille, H. J. P., van Hest, L. P., Letteboer, T. G. W., van der Kolk, L. E., Mensenkamp, A. R., van Os, T. A., Spruijt, L., Redeker, B. J. W., Suerink, M., Vos, Y. J., Wagner, A., Wijnen, J. T., Steyerberg, E. W., Tops, C. M. J., ... Nielsen, M. (2018). SNP association study in PMS2-associated Lynch syndrome. Familial Cancer, 17(4), 507-515. https://doi.org/10.1007/s10689-017-0061-3
  12. 2017
  13. Otter, M., Wevers, M., Pisters, M., Pfundt, R., Vos, Y., Nievelstein, R. J., & Stumpel, C. (2017). A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report. Clinical case reports, 5(8), 1213-1217. https://doi.org/10.1002/ccr3.1038
  14. de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., Brouwer, O. F., Mancini, G. M. S., Newman, H. A., Vos, Y. J., Helbig, K. L., Peeters-Scholte, C., Kriek, M., Knoers, N. V., Lindhout, D., Koeleman, B. P. C., van Kempen, M. J. A., & Brilstra, E. H. (2017). Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics, 18(3), 147-153. https://doi.org/10.1007/s10048-017-0517-5
  15. 2016
  16. van der Klift, H. M., Mensenkamp, A. R., Drost, M., Bik, E. C., Vos, Y. J., Gille, H. J. J. P., Redeker, B. E. J. W., Tiersma, Y., Zonneveld, J. B. M., Garcia, E. G., Letteboer, T. G. W., Olderode-Berends, M. J. W., van Hest, L. P., van Os, T. A., Verhoef, S., Wagner, A., van Asperen, C. J., ten Broeke, S. W., Hes, F. J., ... Tops, C. M. J. (2016). Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. Human Mutation, 37(11), 1162-1179. https://doi.org/10.1002/humu.23052
  17. Kerstjens-Frederikse, W. S., van de Laar, I. M. B. H., Vos, Y. J., Verhagen, J. M. A., Berger, R. M. F., Lichtenbelt, K. D., Wassink-Ruiter, J. S. K., van der Zwaag, P. A., Sarvaas, G. J. D. M., Bergman, K. A., Bilardo, C. M., Roos-Hesselink, J. W., Janssen, J. H. P., Frohn-Mulder, I. M., van Spaendonck-Zwarts, K. Y., Melle, van, J. P., Hofstra, R. M. W., & Wessels, M. W. (2016). Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. Genetics in Medicine, 18(9), 914-923. https://doi.org/10.1038/gim.2015.193
  18. Suerink, M., van der Klift, H. M., ten Broeke, S. W., Dekkers, O. M., Bernstein, I., Capella Munar, G., Gomez Garcia, E., Hoogerbrugge, N., Letteboer, T. G. W., Menko, F. H., Lindblom, A., Mensenkamp, A., Moller, P., van Os, T. A., Rahner, N., Redeker, B. J. W., Olderode, M., Spruijt, L., Vos, Y. J., ... Nielsen, M. (2016). The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. Genetics in Medicine, 18(4), 405-409. https://doi.org/10.1038/gim.2015.83
  19. 2015
  20. ten Broeke, S. W., Brohet, R. M., Tops, C. M., van der Klift, H. M., Velthuizen, M. E., Bernstein, I., Capella Munar, G., Garcia, E. G., Hoogerbrugge, N., Letteboer, T. G. W., Menko, F. H., Lindblom, A., Mensenkamp, A. R., Moller, P., Van Os, T. A., Rahner, N., Redeker, B. J. W., Sijmons, R. H., Spruijt, L., ... Wijnen, J. T. (2015). Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk. Journal of Clinical Oncology, 33(4), 319-325. https://doi.org/10.1200/JCO.2014.57.8088
  21. 2013
  22. Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Blezer, M. M. J., Weber, J. W., Schrander, J. J. P., Rubio-Gozalbo, M. E., Bakker, J. A., Stegmann, A. P. A., Vos, Y. J., & Frints, S. G. M. (2013). Adducted thumbs: A clinical clue to genetic diagnosis. European journal of medical genetics, 56(3), 153-158. https://doi.org/10.1016/j.ejmg.2012.11.004
  23. Knopperts, A. P., Nielsen, M., Niessen, R. C., Tops, C. M. J., Jorritsma, B., Varkevisser, J., Wijnen, J., Siezen, C. L. E., Heine-Broring, R. C., van Kranen, H. J., Vos, Y. J., Westers, H., Kampman, E., Sijmons, R. H., & Hes, F. J. (2013). Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. Familial Cancer, 12(1), 43-50. https://doi.org/10.1007/s10689-012-9570-2
  24. 2011
  25. Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Krapels, P. C., de Die-Smulders, C. E. M., van Lint, F. H. M., Willekes, C., Weber, J. W., Gavilanes, A. W. D., Macville, M. V. E., Stegmann, A. P. A., Engelen, J. J. M., Bakker, J., Vos, Y. J., & Frints, S. G. M. (2011). Congenital hydrocephalus in clinical practice: A genetic diagnostic approach. European journal of medical genetics, 54(6), E542-E547. https://doi.org/10.1016/j.ejmg.2011.06.005
  26. 2010
  27. Sijmons, R. H., Vos, Y. J., Herkert, J. C., Bos, K. K., Holzik, M. F., Hoekstra-Weebers, J. E., Hofstra, R. M., & Hoekstra, H. J. (2010). Screening for germline DND1 mutations in testicular cancer patients. Familial Cancer, 9(3), 439-442. https://doi.org/10.1007/s10689-010-9340-y
  28. van Riel, E., Ausems, M. G. E. M., Hogervorst, F. B. L., Kluijt, I., van Gijn, M. E., van Echtelt, J., Scheidel-Jacobse, K., Hennekam, E. F. A. M., Stulp, R. P., Vos, Y. J., Offerhaus, G. J. A., Menko, F. H., & Gille, J. J. P. (2010). A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome. Hereditary cancer in clinical practice, 8, [7]. https://doi.org/10.1186/1897-4287-8-7
  29. Vos, Y. J., de Walle, H. E. K., Bos, K. K., Stegeman, J. A., ten Berge, A. M., Bruining, M., van Maarle, M. C., Elting, M. W., den Hollander, N. S., Hamel, B., Fortuna, A. M., Sunde, L. E. M., Stolte-Dijkstra, I., Schrander-Stumpel, C. T. R. M., & Hofstra, R. M. W. (2010). Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. JOURNAL OF MEDICAL GENETICS, 47(3), 169-175. https://doi.org/10.1136/jmg.2009.071688
  30. 2009
  31. Griseri, P., Vos, Y., Giorda, R., Gimelli, S., Beri, S., Santamaria, G., Mognato, G., Hofstra, R. M. W., Gimelli, G., & Ceccherini, I. (2009). Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). European Journal of Human Genetics, 17(4), 483-490. https://doi.org/10.1038/ejhg.2008.191
  32. Wessels, M. W., van de Laar, I. M. B. H., Roos-Hesselink, J., Strikwerda, S., Majoor-Krakauer, D. F., de Vries, B. B. A., Kerstjens-Frederikse, W. S., Vos, Y. J., de Graaf, B. M., Bertoli-Avella, A. M., & Willems, P. J. (2009). Autosomal Dominant Inheritance of Cardiac Valves Anomalies in Two Families: Extended Spectrum of Left-Ventricular Outflow Tract Obstruction. American Journal of Medical Genetics. Part A, 149A(2), 216-225. https://doi.org/10.1002/ajmg.a.32594
  33. 2008
  34. van der Hout, A. H., Oudesluijs, G. G., Venema, A., Verheij, J. B. G. M., Mol, B. G. J., Rump, P., Brunner, H. G., Vos, Y. J., & van Essen, A. J. (2008). Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. European Journal of Human Genetics, 16(6), 673-679. https://doi.org/10.1038/sj.ejhg.5202012
  35. Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., Thiruvahindrapduram, B., Fiebig, A., Schreiber, S., Friedman, J., Ketelaars, C. E. J., Vos, Y. J., Ficicioglu, C., Kirkpatrick, S., Nicolson, R., ... Scherer, S. W. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82(2), 477-488. https://doi.org/10.1016/j.ajhg.2007.12.009
  36. 2007
  37. van Tintelen, J. P., Hofstra, R. M. W., Katerberg, H., Rossenbacker, T., Wiesfeld, A. C. P., Sarvaas, G. J. D. M., Wilde, A. A. M., van Langen, I. M., Nannenberg, E. A., van der Kooi, A. J., Kraak, M., van Gelder, I. C., van Veldhuisen, D. J., Vos, Y., & van den Berg, M. P. (2007). High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. American Heart Journal, 154(6), 1130-1139. [ARTN 1130-9]. https://doi.org/10.1016/j.ahj.2007.07.038
  38. van Tintelen, J. P., Tio, R. A., Kerstjens-Frederikse, W. S., van Berlo, J. H., Boven, L. G., Suurmeijer, A. J. H., White, S. J., den Dunnen, J. T., te Meerman, G. J., Vos, Y. J., van der Hout, A. H., Osinga, J., van den Berg, M. P., van Veldhuisen, D. J., Buys, C. H. C. M., Hofstra, R. M. W., & Pinto, Y. M. (2007). Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. Journal of the American College of Cardiology, 49(25), 2430-2439. https://doi.org/10.1016/j.jacc.2007.02.063
  39. 2006
  40. van der Hout, A. H., van den Ouweland, AMW., van der Luijt, RB., Gille, HJP., Bodmer, D., Bruggenwirth, H., Mulder, IM., van der Vlies, P., Elfferich, P., Huisman, M. T., ten Berge, A. M., Kromosoeto, J., Jansen, RPM., van Zon, PHA., Vriesman, T., Arts, N., Lange, MBD., Oosterwijk, J. C., Meijers-Heijboer, H., ... Hofstra, R. M. W. (2006). A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: Application in a Dutch cancer clinic setting. Human Mutation, 27(7), 654-666. https://doi.org/10.1002/humu.20340
  41. 2005
  42. 2004
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