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prof. dr. V.V.A.M. Knoers

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  1. 2020
  2. Roessler, H. I., Shields, K., Grange, D. K., Knoers, N. V. A. M., van Haaften, G., Hammond, P., & van Haelst, M. M. (2020). Three-dimensional facial morphology in Cantu syndrome. American Journal of Medical Genetics. Part A, 182(5), 1041-1052. https://doi.org/10.1002/ajmg.a.61517
  3. Voorwinden, J. S., Plantinga, M., Ausems, M., Knoers, N., Velthuizen, M., Birnie, E., Lucassen, A. M., Ranchor, A. V., & van Langen, I. M. (2020). Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary. EJHG, 28(9), 1187-1195. https://doi.org/10.1038/s41431-020-0629-5
  4. de Lange, I. M., Mulder, F., van 't Slot, R., Sonsma, A. C. M., van Kempen, M. J. A., Nijman, I. J., Ernst, R. F., Knoers, N. V. A. M., Brilstra, E. H., & Koeleman, B. P. C. (2020). Modifier genes in SCN1A-related epilepsy syndromes. Molecular genetics & genomic medicine, 8(4), [1103]. https://doi.org/10.1002/mgg3.1103
  5. Snoek, R., van der Graaf, R., Meinderts, J. R., van Reekum, F., Bloemenkamp, K. W. M., Knoers, N. V. A. M., van Eerde, A. M., & Lely, A. T. (2020). Pregnancy in Advanced Kidney Disease: Clinical Practice Considerations on a Challenging Combination. Nephron, 144(4), 185-189. https://doi.org/10.1159/000505781
  6. Terhal, P. A., Vlaar, J. M., Middelkamp, S., Nievelstein, R. A. J., Nikkels, P. G. J., Ross, J., Créton, M., Bos, J. W., Voskuil-Kerkhof, E. S. M., Cuppen, E., Knoers, N., & L I van Gassen, K. (2020). Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. EJHG, 28(1), 31-39. [187]. https://doi.org/10.1038/s41431-019-0427-0
  7. 2019
  8. de Haan, A., Eijgelsheim, M., Vogt, L., Knoers, N. V. A. M., & de Borst, M. H. (2019). Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology. Frontiers in Genetics, 10, [1264]. https://doi.org/10.3389/fgene.2019.01264
  9. Dufek, S., Cheshire, C., Levine, A. P., Trompeter, R. S., Issler, N., Stubbs, M., Mozere, M., Gupta, S., Klootwijk, E., Patel, V., Hothi, D., Waters, A., Webb, H., Tullus, K., Jenkins, L., Godinho, L., Levtchenko, E., Wetzels, J., Knoers, N., ... Bockenhauer, D. (2019). Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. Journal of the American Society of Nephrology, 30(8), 1375-1384. https://doi.org/10.1681/ASN.2018101054
  10. Knoers, N. V. A. M., & Renkema, K. Y. (2019). The genomic landscape of CAKUT; you gain some, you lose some. Kidney International, 96(2), 267-269. https://doi.org/10.1016/j.kint.2019.03.017
  11. Voorwinden, J. S., Plantinga, M., Ausems, M., Knoers, N., Velthuizen, M., Birnie, E., Lucassen, A. M., Ranchor, A. V., & van Langen, I. M. (2019). A large outcome study on genetic counseling in the Netherlands: empowerment and emotional functioning. European Journal of Human Genetics, 27, 696-696.
  12. de Lange, I. M., Weuring, W., van 't Slot, R., Gunning, B., Sonsma, A. C. M., McCormack, M., de Kovel, C., van Gemert, L. J. J. M., Mulder, F., van Kempen, M. J. A., Knoers, N. V. A. M., Brilstra, E. H., & Koeleman, B. P. C. (2019). Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes. Molecular genetics & genomic medicine, 7(7), [e00727]. https://doi.org/10.1002/mgg3.727
  13. Voorwinden, J. S., Plantinga, M., Krijnen, W., Ausems, M., Knoers, N., Velthuizen, M., Birnie, E., Lucassen, A. M., van Langen, I. M., & Ranchor, A. V. (2019). A validated PROM in genetic counselling: The psychometric properties of the Dutch version of the Genetic Counselling Outcome Scale. European Journal of Human Genetics, 27(5), 681-690. https://doi.org/10.1038/s41431-018-0318-9
  14. Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., ... Jans, J. J. (2019). Identification of human D lactate dehydrogenase deficiency. Nature Communications, 10, [1477]. https://doi.org/10.1038/s41467-019-09458-6
  15. Stokman, M. F., Bijnsdorp, I. V., Schelfhorst, T., Pham, T. V., Piersma, S. R., Knol, J. C., Giles, R. H., Bongers, E. M. H. F., Knoers, N. V. A. M., Lilien, M. R., Jiménez, C. R., & Renkema, K. Y. (2019). Changes in the urinary extracellular vesicle proteome are associated with nephronophthisis-related ciliopathies. Journal of proteomics, 192, 27-36. https://doi.org/10.1016/j.jprot.2018.07.008
  16. de Lange, I. M., Koudijs, M. J., van 't Slot, R., Sonsma, A. C. M., Mulder, F., Carbo, E. C., van Kempen, M. J. A., Nijman, I. J., Ernst, R. F., Savelberg, S. M. C., Knoers, N. V. A. M., Brilstra, E. H., & Koeleman, B. P. C. (2019). Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing. JOURNAL OF MEDICAL GENETICS, 56(2), 75-80. https://doi.org/10.1136/jmedgenet-2018-105672
  17. de Lange, I. M., Gunning, B., Sonsma, A. C. M., van Gemert, L., van Kempen, M., Verbeek, N. E., Sinoo, C., Nicolai, J., Knoers, N. V. A. M., Koeleman, B. P. C., & Brilstra, E. H. (2019). Outcomes and comorbidities of SCN1A-related seizure disorders. Epilepsy & Behavior, 90, 252-259. https://doi.org/10.1016/j.yebeh.2018.09.041
  18. Snoek, R., Nguyen, T. Q., van der Zwaag, B., van Zuilen, A. D., Kruis, H. M. E., van Gils-Verrij, L. A., Goldschmeding, R., Knoers, N. V. A. M., Rookmaaker, M. B., & van Eerde, A. M. (2019). Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis. Nephron, 142(4), 351-358. https://doi.org/10.1159/000499937
  19. 2018
  20. Vrijenhoek, T., Middelburg, E. M., Monroe, G. R., van Gassen, K. L. I., Geenen, J. W., Hövels, A. M., Knoers, N. V., van Amstel, H. K. P., & Frederix, G. W. J. (2018). Whole-exome sequencing in intellectual disability; cost before and after a diagnosis. EJHG, 26(11), 1566-1571. https://doi.org/10.1038/s41431-018-0203-6
  21. Nigam, A., Knoers, N. V. A. M., & Renkema, K. Y. (2018). Impact of next generation sequencing on our understanding of CAKUT. Seminars in Cell & Developmental Biology. https://doi.org/10.1016/j.semcdb.2018.08.013
  22. Kleinendorst, L., Massink, M. P. G., Cooiman, M. I., Savas, M., van der Baan-Slootweg, O. H., Roelants, R. J., Janssen, I. C. M., Meijers-Heijboer, H. J., Knoers, N. V. A. M., Ploos van Amstel, H. K., van Rossum, E. F. C., van den Akker, E. L. T., van Haaften, G., van der Zwaag, B., & van Haelst, M. M. (2018). Genetic obesity: next-generation sequencing results of 1230 patients with obesity. JOURNAL OF MEDICAL GENETICS, 55(9), 578-586. https://doi.org/10.1136/jmedgenet-2018-105315
  23. de Lange, I. M., Gunning, B., Sonsma, A. C. M., van Gemert, L., van Kempen, M., Verbeek, N. E., Nicolai, J., Knoers, N. V. A. M., Koeleman, B. P. C., & Brilstra, E. H. (2018). Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes. Epilepsia, 59(6), 1154-1165. https://doi.org/10.1111/epi.14191
  24. Snoek, R., van Setten, J., Keating, B. J., Israni, A. K., Jacobson, P. A., Oetting, W. S., Matas, A. J., Mannon, R. B., Zhang, Z., Zhang, W., Hao, K., Murphy, B., Reindl-Schwaighofer, R., Heinzl, A., Oberbauer, R., Viklicky, O., Conlon, P. J., Stapleton, C. P., Bakker, S. J. L., ... van Eerde, A. M. (2018). NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD. Journal of the American Society of Nephrology, 29(6), 1772-1779. https://doi.org/10.1681/ASN.2017111200
  25. RD-Connect consortium (2018). RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. EJHG, 26(6), 778-785. https://doi.org/10.1038/s41431-018-0115-5
  26. Neirijnck, Y., Reginensi, A., Renkema, K. Y., Massa, F., Kozlov, V. M., Dhib, H., Bongers, E. M. H. F., Feitz, W. F., van Eerde, A. M., Lefebvre, V., Knoers, N. V. A. M., Tabatabaei, M., Schulz, H., McNeill, H., Schaefer, F., Wegner, M., Sock, E., & Schedl, A. (2018). Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT). Kidney International, 93(5), 1142-1153. https://doi.org/10.1016/j.kint.2017.11.026
  27. Renkema, K. Y., Giles, R. H., Lilien, M. R., Beales, P. L., Roepman, R., Oud, M. M., Arts, H. H., & Knoers, N. V. A. M. (2018). The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis. Frontiers in Pediatrics, 6, [131]. https://doi.org/10.3389/fped.2018.00131
  28. de Lange, I. M., Koudijs, M. J., van 't Slot, R., Gunning, B., Sonsma, A. C. M., van Gemert, L. J. J. M., Mulder, F., Carbo, E. C., van Kempen, M. J. A., Verbeek, N. E., Nijman, I. J., Ernst, R. F., Savelberg, S. M. C., Knoers, N. V. A. M., Brilstra, E. H., & Koeleman, B. P. C. (2018). Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. Epilepsia, 59(3), 690-703. https://doi.org/10.1111/epi.14021
  29. Hartill, V. L., van de Hoek, G., Patel, M. P., Little, R., Watson, C. M., Berry, I. R., Shoemark, A., Abdelmottaleb, D., Parkes, E., Bacchelli, C., Szymanska, K., Knoers, N. V., Scambler, P. J., Ueffing, M., Boldt, K., Yates, R., Winyard, P. J., Adler, B., Moya, E., ... Johnson, C. A. (2018). DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27(3), 529-545. https://doi.org/10.1093/hmg/ddx422
  30. Terhal, P. A., Verbeek, N. E., Knoers, N., Nievelstein, R. J. A. J., van den Ouweland, A., Sakkers, R. J., Speleman, L., & van Haaften, G. (2018). Further delineation of the GDF6 related multiple synostoses syndrome. American Journal of Medical Genetics. Part A, 176(1), 225-229. https://doi.org/10.1002/ajmg.a.38503
  31. Stokman, M. F., van der Zwaag, B., van de Kar, N. C. A. J., van Haelst, M. M., van Eerde, A. M., van der Heijden, J. W., Kroes, H. Y., Ippel, E., Schulp, A. J. A., van Gassen, K. L., van Rooij, I. A. L. M., Giles, R. H., Beales, P. L., Roepman, R., Arts, H. H., Bongers, E. M. H. F., Renkema, K. Y., Knoers, N. V. A. M., van Reeuwijk, J., & Lilien, M. R. (2018). Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. Pediatric Nephrology, 33(10), 1701-1712. https://doi.org/10.1007/s00467-018-3958-7
  32. van Rooijen, E., van de Hoek, G., Logister, I., Ajzenberg, H., Knoers, N. V. A. M., van Eeden, F., Voest, E. E., Schulte-Merker, S., & Giles, R. H. (2018). The von Hippel-Lindau Gene Is Required to Maintain Renal Proximal Tubule and Glomerulus Integrity in Zebrafish Larvae. Nephron, 138(4), 310-323. https://doi.org/10.1159/000484096
  33. 2017
  34. Snoek, R., van Eerde, A. M., & Knoers, N. V. A. M. (2017). Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease. Kidney International, 92(6), 1325-1327. https://doi.org/10.1016/j.kint.2017.07.009
  35. Conference Participants (2017). Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 92(4), 796-808. https://doi.org/10.1016/j.kint.2017.06.018
  36. Verbeek, N., Kasteleijn-Nolst Trenité, D., Wassenaar, M., van Campen, J., Sonsma, A., Gunning, W. B., de Weerd, A., Knoers, N., Spetgens, W., Gutter, T., Leijten, F., & Brilstra, E. (2017). Photosensitivity in Dravet syndrome is under-recognized and related to prognosis. Clinical Neurophysiology, 128(2), 323-330. https://doi.org/10.1016/j.clinph.2016.11.021
  37. Baas, A. F., Spiering, W., Moll, F. L., Page-Christiaens, L., Beenakkers, I. C. M., Dooijes, D., Vonken, E-J. P. A., van der Smagt, J. J., Knoers, N. V., Koenen, S. V., van Herwaarden, J. A., & Sieswerda, G. T. (2017). Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family. American Journal of Medical Genetics. Part A, 173(2), 519-523. https://doi.org/10.1002/ajmg.a.38033
  38. Renkema, K. Y., & Knoers, N. V. A. M. (2017). Genetics of kidney disease in 2016: Ingenious tactics to unravel complex kidney disease genetics. Nature Reviews Nephrology, 13(2), 67-68. https://doi.org/10.1038/nrneph.2016.192
  39. Blanchard, A., Bockenhauer, D., Bolignano, D., Calò, L. A., Cosyns, E., Devuyst, O., Ellison, D. H., Karet Frankl, F. E., Knoers, N. V. A. M., Konrad, M., Lin, S-H., & Vargas-Poussou, R. (2017). Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 91(1), 24-33. https://doi.org/10.1016/j.kint.2016.09.046
  40. Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., ... Møller, R. S. (2017). Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain, 140(5), 1316-1336. https://doi.org/10.1093/brain/awx054
  41. 2016
  42. Monroe, G. R., Kappen, I. F., Stokman, M. F., Terhal, P. A., van den Boogaard, M-J. H., Savelberg, S. M., van der Veken, L. T., van Es, R. J., Lens, S. M., Hengeveld, R. C., Creton, M. A., Janssen, N. G., Mink van der Molen, A. B., Ebbeling, M. B., Giles, R. H., Knoers, N. V., & van Haaften, G. (2016). Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome). EJHG, 24(12), 1752-1760. https://doi.org/10.1038/ejhg.2016.103
  43. Cornelis, C., Tibben, A., Dondorp, W., van Haelst, M., Bredenoord, A. L., Knoers, N., Düwell, M., Bolt, I., & van Summeren, M. (2016). Whole-exome sequencing in pediatrics: parents' considerations toward return of unsolicited findings for their child. EJHG, 24(12), 1681-1687. https://doi.org/10.1038/ejhg.2016.100
  44. Souwer, I. H., Smaal, D., Bor, J. H. J., Knoers, N., & Lagro-Janssen, A. L. M. (2016). Phenotypic familial aggregation in chronic chilblains. Family practice, 33(5), 461-465. https://doi.org/10.1093/fampra/cmw052
  45. van Eerde, A. M., Krediet, C. T. P., Rookmaaker, M. B., van Reekum, F. E., Knoers, N. V. A. M., & Lely, A. T. (2016). Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling. Kidney International, 90(4), 905-906. https://doi.org/10.1016/j.kint.2016.05.035
  46. Monroe, G. R., Frederix, G. W., Savelberg, S. M. C., de Vries, T. I., Duran, K. J., van der Smagt, J. J., Terhal, P. A., van Hasselt, P. M., Kroes, H. Y., Verhoeven-Duif, N. M., Nijman, I. J., Carbo, E. C., van Gassen, K. L., Knoers, N. V., Hövels, A. M., van Haelst, M. M., Visser, G., & van Haaften, G. (2016). Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. Genetics in Medicine, 18(9), 949-956. https://doi.org/10.1038/gim.2015.200
  47. Stokman, M. F., Renkema, K. Y., Giles, R. H., Schaefer, F., Knoers, N. V. A. M., & van Eerde, A. M. (2016). The expanding phenotypic spectra of kidney diseases: insights from genetic studies. Nature Reviews Nephrology, 12(8), 472-483. https://doi.org/10.1038/nrneph.2016.87
  48. Groen In 't Woud, S., Renkema, K. Y., Schreuder, M. F., Wijers, C. H. W., van der Zanden, L. F. M., Knoers, N. V. A. M., Feitz, W. F. J., Bongers, E. M. H. F., Roeleveld, N., & van Rooij, I. A. L. M. (2016). Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study. Birth Defects Research A Clinical and Molecular Teratology, 106(7), 596-603. https://doi.org/10.1002/bdra.23500
  49. DDD Study (2016). Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. Human Molecular Genetics, 25(11), 2158-2167. https://doi.org/10.1093/hmg/ddw082
  50. Stokman, M. F., Oud, M. M., van Binsbergen, E., Slaats, G. G., Nicolaou, N., Renkema, K. Y., Nijman, I. J., Roepman, R., Giles, R. H., Arts, H. H., Knoers, N. V. A. M., & van Haelst, M. M. (2016). De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia. American Journal of Medical Genetics. Part A, 170(6), 1566-1569. https://doi.org/10.1002/ajmg.a.37598
  51. Kroes, H. Y., Monroe, G. R., van der Zwaag, B., Duran, K. J., de Kovel, C. G., van Roosmalen, M. J., Harakalova, M., Nijman, I. J., Kloosterman, W. P., Giles, R. H., Knoers, N. V. A. M., & van Haaften, G. (2016). Joubert syndrome: genotyping a Northern European patient cohort. EJHG, 24(2), 214-220. https://doi.org/10.1038/ejhg.2015.84
  52. Nicolaou, N., Pulit, S. L., Nijman, I. J., Monroe, G. R., Feitz, W. F. J., Schreuder, M. F., van Eerde, A. M., de Jong, T. P. V. M., Giltay, J. C., van der Zwaag, B., Havenith, M. R., Zwakenberg, S., van der Zanden, L. F. M., Poelmans, G., Cornelissen, E. A. M., Lilien, M. R., Franke, B., Roeleveld, N., van Rooij, I. A. L. M., ... Renkema, K. Y. (2016). Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT. Kidney International, 89(2), 476-486. https://doi.org/10.1038/ki.2015.319
  53. Slaats, G. G., Isabella, C. R., Kroes, H. Y., Dempsey, J. C., Gremmels, H., Monroe, G. R., Phelps, I. G., Duran, K. J., Adkins, J., Kumar, S. A., Knutzen, D. M., Knoers, N. V., Mendelsohn, N. J., Neubauer, D., Mastroyianni, S. D., Vogt, J., Worgan, L., Karp, N., Bowdin, S., ... Doherty, D. (2016). MKS1 regulates ciliary INPP5E levels in Joubert syndrome. JOURNAL OF MEDICAL GENETICS, 53(1), 62-72. https://doi.org/10.1136/jmedgenet-2015-103250
  54. 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). De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies. Case reports in genetics, 2016, [2861653]. https://doi.org/10.1155/2016/2861653
  55. Knoers, N. V. A. M., & Bindels, R. J. (2016). MAGE-D2 and the Regulation of Renal Salt Transporters. New England Journal of Medicine, 374(19), 1888-1890. https://doi.org/10.1056/NEJMe1603856
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