drs. Y.J. Vos

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

Research

  1. 2019
  2. Johansson, L. F., van Dijk-Bos, K. K., van der Hout, A. H., Knopperts, A. P., Leegte, B., ter Beest, J., ... Westers, H. (2019). What if we would turn a diagnostic multi-cancer gene panel into a screening tool? European Journal of Human Genetics, 27, 1126-1126.
  3. GRIN2A Study Grp, Strehlow, V., Heyne, H. O., Vlaskamp, D. R. M., Marwick, K. F. M., Rudolf, G., ... 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
  4. 2018
  5. ten Broeke, S. W., van der Klift, H. M., Tops, C. M. J., Aretz, S., Bernstein, I., Buchanan, D. D., ... 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
  6. ten Broeke, S. W., Elsayed, F. A., Pagan, L., Olderode-Berends, M. J. W., Garcia, E. G., Gille, H. J. P., ... 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
  7. 2017
  8. 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
  9. de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., ... 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
  10. 2016
  11. Suerink, M., van der Klift, H. M., ten Broeke, S. W., Dekkers, O. M., Bernstein, I., Capella Munar, G., ... 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
  12. 2015
  13. ten Broeke, S. W., Brohet, R. M., Tops, C. M., van der Klift, H. M., Velthuizen, M. E., Bernstein, I., ... 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
  14. 2013
  15. 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., ... 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
  16. 2011
  17. 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., ... 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
  18. 2010
  19. van Riel, E., Ausems, M. G. E. M., Hogervorst, F. B. L., Kluijt, I., van Gijn, M. E., van Echtelt, J., ... 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
  20. 2009
  21. Wessels, M. W., van de Laar, I. M. B. H., Roos-Hesselink, J., Strikwerda, S., Majoor-Krakauer, D. F., de Vries, B. B. A., ... 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
  22. 2008
  23. van der Hout, A. H., Oudesluijs, G. G., Venema, A., Verheij, J. B. G. M., Mol, B. G. J., Rump, P., ... 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
  24. Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., ... 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
  25. 2007
  26. van Tintelen, J. P., Hofstra, R. M. W., Katerberg, H., Rossenbacker, T., Wiesfeld, A. C. P., Sarvaas, G. J. D. M., ... 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
  27. 2006
  28. van der Hout, A. H., van den Ouweland, AMW., van der Luijt, RB., Gille, HJP., Bodmer, D., Bruggenwirth, 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
  29. 2005
  30. 2004
  31. 2003
  32. Kariola, R., Otway, R., Lonnqvist, KE., Raevaara, TE., Macrae, F., Vos, YJ., ... Nystrom-Lahti, M. (2003). Two mismatch repair gene mutations found in a colon cancer patient - which one is pathogenic? HUMAN GENETICS, 112(2), 105-109. https://doi.org/10.1007/s00439-002-0866-4
  33. Criado, GR., Aytes, AP., Martinez, F., Vos, YJ., Verlind, E., Lopez, AGM., ... Schrander-Stumpel, C. (2003). X-linked hydrocephalus: Another two families with an L1 mutation. Genetic counseling, 14(1), 57-65.
  34. 2002
  35. Raevaara, TE., Timohariu, T., Lonnqvist, KE., Kariola, R., Steinhoff, M., Hofstra, RMW., ... Nystrom-Lahti, M. (2002). Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer. JOURNAL OF MEDICAL GENETICS, 39(10), 747-750.
  36. Sztriha, L., Vos, YJ., Verlind, E., Johansen, J., & Berg, B. (2002). X-linked hydrocephalus: A novel missense mutation in the L1CAM gene. Pediatric neurology, 27(4), 293-296. [PII S0887-8994(02)00440-X].

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