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

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E-mail:
v.v.a.m.knoers umcg.nl

Research

  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. 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
  4. 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
  5. 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
  6. 2019
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 2018
  15. 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
  16. 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
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 2017
  27. 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
  28. 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
  29. 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
  30. 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
  31. 2016
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
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