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  • Source: Scopus
20182021

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  • Clinical delineation of an adult female patient with a rare interstitial 10q24.32q25.1 microdeletion

    Jehee, F. S., Bouma, T. & Bouman, A., 1 Jul 2021, In: Clinical Dysmorphology. 30, 3, p. 130-136 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

    Schirwani, S., Albaba, S., DDD Study, Carere, D. A., Guillen Sacoto, M. J., Milan Zamora, F., Si, Y., Rabin, R., Pappas, J., Renaud, D. L., Hauser, N., Reid, E., Blanchet, P., Foulds, N., Dixit, A., Fisher, R., Armstrong, R., Isidor, B., Cogne, B., Schrier Vergano, S. & 35 others, Demirdas, S., Dykzeul, N., Cohen, J. S., Grand, K., Morel, D., Slavotinek, A., Albassam, H. F., Naik, S., Dean, J., Ragge, N., Cinzia, C., Tedesco, M. G., Harrison, R. E., Bouman, A., Palen, E., Challman, T. D., Willemsen, M. H., Vogt, J., Cunniff, C., Bergstrom, K., Walia, J. S., Bruel, A. L., Kini, U., Alkuraya, F. S., Slegesky, V., Meeks, N., Girotto, P., Johnson, D., Newbury-Ecob, R., Ockeloen, C. W., Prontera, P., Lynch, S. A., Li, D., Graham Jr., J. M. & Balasubramanian, M., Nov 2021, In: American Journal of Medical Genetics, Part A. 185, 11, p. 3446-3458 13 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    2 Citations (Scopus)
  • NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    Stamberger, H., Hammer, TB., Gardella, E., Vlaskamp, DRM., Bertelsen, B., Mandelstam, S., Lange, I., Zhang, J., Myers, CT., Fenger, C., Afawi, Z., Almanza Fuerte, EP., Andrade, DM., Balcik, Y., Ben Zeev, B., Bennett, MF., Berkovic, SF., Isidor, B., Bouman, A., Brilstra, E. & 65 others, Busk, ØL., Cairns, A., Caumes, R., Chatron, N., Dale, RC., de Geus, C., Edery, P., Gill, D., Granild-Jensen, JB., Gunderson, L., Gunning, B., Heimer, G., Helle, JR., Hildebrand, MS., Hollingsworth, G., Kharytonov, V., Klee, EW., Koeleman, BPC., Koolen, DA., Korff, C., Küry, S., Lesca, G., Lev, D., Leventer, RJ., Mackay, MT., Macke, EL., McEntagart, M., Mohammad, SS., Monin, P., Montomoli, M., Morava, E., Moutton, S., Muir, AM., Parrini, E., Procopis, P., Ranza, E., Reed, L., Reif, PS., Rosenow, F., Rossi, M., Sadleir, LG., Sadoway, T., Schelhaas, HJ., Schneider, AL., Shah, K., Shalev, R., Sisodiya, SM., Smol, T., Stumpel, C., Stuurman, K., Symonds, JD., Mau-Them, FT., Verbeek, N., Verhoeven, JS., Wallace, G., Yosovich, K., Zarate, YA., Zerem, A., Zuberi, SM., Guerrini, R., Mefford, HC., Patel, C., Zhang, YH., Møller, RS. & Scheffer, IE., 2021, In: Genetics in Medicine. 23, 2, p. 363-373 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
    8 Citations (Scopus)
  • A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    Drivas, TG., Li, D., Nair, D., Alaimo, JT., Alders, M., Altmüller, J., Barakat, S., Bebin, M., Bertsch, NL., Blackburn, P., Blesson, A., Bouman, A., Brockmann, K., Brunelle, D., Burmeister, M., Cooper, G., Denecke, T., Dieux-Coeslier, A., Dubbs, H., Ferrer, A. & 45 others, Gal, D., Bartik, LE., Gunderson, LB., Hasadsri, L., Jain, M., Karimov, C., Keena, BA., Klee, EW., Kloth, K., Lace, B., Macchiaiolo, M., Marcadier, JL., Milunsky, JM., Napier, MP., Ortiz-Gonzalez, XR., Pichurin, PN., Pinner, J., Powis, Z., Prasad, C., Radio, FC., Rasmussen, KJ., Renaud, D., Rush, E., Saunders, C., Selcen, D., Seman, AR., Shinde, D. N., Smith, E., Smol, S., Snijders Blok, L., Stoler, JM., Tang, S., Tartaglia, M., Thompson, ML., van de Kamp, JM., Wang, J., Weise, D., Weiss, K., Woitschach, R., Wollnik, B., Yan, H., Zackai, E., Zampino, G., Campeau, PM. & Bhoj, EJ., 2020, In: European Journal of Human Genetics. 28, 10, p. 1422-1431 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    11 Citations (Scopus)
  • CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    Konrad, EDH., Nardini, N., Caliebe, A., Nagel, I., Young, D., Horvath, G., Bouman, A., Stuurman, K., Van Esch, H. & Zweier, C., 2019, In: Genetics in Medicine. 21, 12, p. 2723-2733 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
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    19 Citations (Scopus)
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