Niels Vos

Research output

Research output per year 2020 2020 2022 2023 2024 2024

• 7 Article
• 1 Comment/Letter to the editor
• 1 Letter
• 1 Review article

Research output per year

Research output per year

Search results

• Article

  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 othersHochstenbach, R., Alders, M., Mannens, M. M. A. M., Sadikovic, B., van Haelst, M. M. & Henneman, P., 1 Aug 2023, In: Genetics in medicine. 25, 8, 100871.

  Research output: Contribution to journal › Article › Academic › peer-review
  8 Citations (Scopus)

• DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

  Vos, N., Reilly, J., Elting, M. W., Campeau, P. M., Coman, D., Stark, Z., Tan, T. Y., Amor, D. J., Kaur, S., StJohn, M., Morgan, A. T., Kamien, B. A., Patel, C., Tedder, M. L., Merla, G., Prontera, P., Castori, M., Muru, K., Collins, F., Christodoulou, J., & 13 othersSmith, J., Zeev, B. B., Murgia, A., Leonardi, E., Esber, N., Martinez-Monseny, A., Casas-Alba, D., Wallis, M., Mannens, M., Levy, M. A., Relator, R., Alders, M. & Sadikovic, B., 1 Mar 2023, In: Epigenomics. 15, 6, p. 351-367 17 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  1 Citation (Scopus)

• Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options

  Vos, N., Kleinendorst, L., van der Laan, L., van Uhm, J., Jansen, P. R., van Eeghen, A. M., Maas, S. M., Mannens, M. M. A. M. & van Haelst, M. M., 2024, (E-pub ahead of print) In: European journal of human genetics.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

  Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Ferilli, M., Fletcher, R. S., Cherick, F., Foroutan, A., & 72 othersFriez, M. J., Gervasini, C., Haghshenas, S., Hilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Plomp, A. S., Poulton, C., Reilly, J., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., John, M. S., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T. B., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Campion, D., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Heron, D., Husson, T., Kernohan, K. D., McNeill, A., Menke, L. A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vincent, M., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L. & Sadikovic, B., Nov 2022, In: Human mutation. 43, 11, p. 1609-1628 20 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  24 Citations (Scopus)

• GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity

  Kleinendorst, L., Abawi, O., Vos, N., van der Valk, E. S., Maas, S. M., Morgan, A. T., Hildebrand, M. S., da Silva, J. D., Florijn, R. J., Lauffer, P., Visser, J. A., van Rossum, E. F. C., van den Akker, E. L. T. & van Haelst, M. M., 2024, (E-pub ahead of print) In: Clinical obesity.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access

• Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome

  Shepherd, D. A., Vos, N., Reid, S. M., Godler, D. E., Guzys, A., Moreno-Betancur, M. & Amor, D. J., 2 Jul 2020, In: Genes. 11, 7

  Research output: Contribution to journal › Article › Academic › peer-review

• Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

  Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Bralo, M. P., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S., & 67 othersHilton, B. A., Jenkins, Z., Kaur, S., Lewis, S., Louie, R. J., Maitz, S., Milani, D., Morgan, A. T., Oegema, R., Østergaard, E., Pallares, N. R., Piccione, M., Pizzi, S., Plomp, A. S., Poulton, C., Reilly, J., Relator, R., Rius, R., Robertson, S., Rooney, K., Rousseau, J., Santen, G. W. E., Santos-Simarro, F., Schijns, J., Squeo, G. M., St John, M., Thauvin-Robinet, C., Traficante, G., van der Sluijs, P. J., Vergano, S. A., Vos, N., Walden, K. K., Azmanov, D., Balci, T., Banka, S., Gecz, J., Henneman, P., Lee, J. A., Mannens, M. M. A. M., Roscioli, T., Siu, V., Amor, D. J., Baynam, G., Bend, E. G., Boycott, K., Brunetti-Pierri, N., Campeau, P. M., Christodoulou, J., Dyment, D., Esber, N., Fahrner, J. A., Fleming, M. D., Genevieve, D., Kerrnohan, K. D., McNeill, A., Merla, G., Prontera, P., Rockman-Greenberg, C., Schwartz, C., Skinner, S. A., Stevenson, R. E., Vitobello, A., Tartaglia, M., Alders, M., Tedder, M. L., Sadikovic, B. & Menke, L. A., 13 Jan 2022, In: Human Genetics and Genomics Advances. 3, 1, p. 100075

  Research output: Contribution to journal › Article › Academic › peer-review