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Arjan Bouman

 https://orcid.org/0000-0003-3531-5136

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Collaborations and top research areas from the last five years

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  • Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

    Greene, D., Mendez, R., Undiagnosed Diseases Network, Lees, J., Barbosa, M., Bruselles, A., Chiriatti, L., Ferraro, F., Mancini, C., Schot, R., Sleutels, F., Bertini, E., Bonner, D. E., Bouman, A., Brooks, A. S., Cassini, T. A., Ezell, K. M., Gomez-Ospina, N., Kleefstra, T. & O’Donoghue, M. & 11 others, Rives, L., Shashi, V., Spillmann, R. C., Wafik, M., Freson, K., Barakat, T. S., Tartaglia, M., Bernstein, J. A., Mumford, A. D., Wheeler, M. T. & Turro, E., Apr 2026, In: Nature Genetics. 58, 4, p. 774-781 8 p.

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

    Open Access
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    3 Citations (Scopus)
    5 Downloads (Pure)

  • Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

    Ortiz, S., Affronte, L., Bagliani, C., El-Kamand, S., Kan, A. S. H., Kristoffersen, I. T., Dahl, R. S., Højte, A. F., Auvin, S., Bouman, A., Zeidler, S., Kluger, G., Lesca, G., Chatron, N., Goke-Samar, Z., Papadopoulou, M. T., Terzi, M. A. P., Schaefer, E., de Saint Martin, A. & Baer, S. & 54 others, Al Owain, M., Takroni, S., Al-Dhalaan, H., Bonanni, P., Rossi, A., Zanotta, N., Trivisano, M., Specchio, N., de Dominicis, A., Striano, P., Orsini, A., Mancardi, M. M., Neuens, S., Jennesson-Lyver, M., Benkel-Herrenbrueck, I., Genevieve, D., Sidlow, R., Tezcan, K., Krey, I., Lemke, J. R., Platzer, K., Lederer, D., Talvik, I., Vaher, U., Braun, K. P. J., Guerrot, A. M., More, R., De Wachter, M., Weckhuysen, S., Carapancea, E., Cilio, M. R., Jacobs, J., Sterbova, K., Balestrini, S., Guerrini, R., Peroni, G., Mero, I. L., ElNaggar, W., Elkhateeb, N., Schmetz, A., Chan, D. L., Mirzaa, G. M., Chaumette, B., Legrand, A., McTague, A., Stödberg, T., Harris, R. V., Berkovic, S. F., Scheffer, I. E., Chebib, M., Gardella, E., Ahring, P. K., Absalom, N. L. & Møller, R. S., Apr 2026, In: Epilepsia. 67, 4, p. 1945-1960 16 p.

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

    Open Access
    File
    45 Downloads (Pure)

  • Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder

    Jury, J., Besnard, T., Deb, W., Toutain, A., Gueguen, P., Bruel, A. L., Bouman, A., Veenma, D., Barakat, T. S., Do Souto Ferreira, L., Zwijnenburg, P. J. G., Schuhmann, S., Vasileiou, G., Egloff, M., Bilan, F., Mercier, A., Letard, P., Leitão, E., Schroeder, C. & Depienne, C. & 4 others, Blanc, P., Bézieau, S., Cogné, B. & Isidor, B., Jan 2026, In: Journal of medical genetics. 63, 1, p. 34-39 6 p.

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

    File
    1 Citation (Scopus)
    16 Downloads (Pure)

  • PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

    Masson, A., Paccaud, J., Orefice, M., Colin, E., Mäkitie, O., Cormier-Daire, V., Relator, R., Ghosh, S., Strub, J. M., Schaeffer-Reiss, C., Marcelis, C., Koolen, D. A., Pfundt, R., de Boer, E., Vissers, L. E. L. M., Gardeitchik, T., Aarts, L. A. M., Rinne, T., Terhal, P. A. & Verbeek, N. E. & 75 others, Zuurbier, L. C., Plomp, A. S., Wessels, M. W., de Man, S. A., Bouman, A., Bird, L. M., Saadeh-Haddad, R., Guillen Sacoto, M. J., Person, R., Gooch, C., Hurst, A. C. E., Thompson, M. L., Hiatt, S. M., Littlejohn, R. O., Roeder, E. R., Mori, M., Hickey, S. E., Hunter, J. M., Lee, K., Osman, K., Halloun, R., Bachmann-Gagescu, R., Rauch, A., Wieczorek, D., Platzer, K., Luppe, J., Duplomb-Jego, L., It, F. E., Duffourd, Y., Mau-Them, F. T., Huber, C., Gordon, C. T., Taylan, F., Mäkitie, R. E., Costantini, A., Valta, H., Robertson, S., Poke, G., Francoise, M., Ciolfi, A., Tartaglia, M., Ekhilevitch, N., Zaid, R., Levy, M. A., Kerkhof, J., McConkey, H., Delanne, J., Chevarin, M., Vautrot, V., Bourgeois, V., Nguyen, S., Marle, N., Callier, P., Safraou, H., Morgan, A., Amor, D. J., Hildebrand, M. S., Coman, D., Mucca, M. A., Thevenon, J., Laffargue, F., Bilan, F., Pebrel-Richard, C., Yoon, G., Axford, M. M., Pérez-Jurado, L. A., Sevilla-Porras, M., Black, D. L., Philippe, C., Sadikovic, B., Thauvin-Robinet, C., Olivier-Faivre, L., Ori, M., Thomas, Q. & Vitobello, A., 17 Nov 2025, In: The Journal of clinical investigation. 135, 22, p. 1-18 18 p., e182100.

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

    Open Access
    File
    5 Citations (Scopus)
    17 Downloads (Pure)

  • A clinical and genotype-phenotype analysis of MACF1 variants

    Dekker, J., Schot, R., Aldinger, K. A., Everman, D. B., Washington, C., Jones, J. R., Sullivan, J. A., Spillmann, R. C., Shashi, V., Vitobello, A., Denommé-Pichon, A. S., Mosca-Boidron, A. L., Perrin, L., Auvin, S., Zaki, M. S., Gleeson, J. G., Meave, N., Wallace, C., Nambot, S. & Delanne, J. & 70 others, Ruggiero, S. M., Helbig, I., Fitzgerald, M. P., Leventer, R. J., Grange, D. K., Argilli, E., Sherr, E. H., Prakash, S., Neilson, D. E., Nicita, F., Sferra, A., Bertini, E. S., Aiello, C., Brockmann, K., Kuranov, A. B., Kaulfuss, S., Basit, S., Alluqmani, M., Almatrafi, A., Friedman, J. M., Guimond, C., Mohammed, F., Sharma, P., Goel, D., Wirth, T., Anheim, M., Bahena, P., Koparir, A., Kolokotronis, K., Vona, B., Haaf, T., Kunstmann, E., Maroofian, R., Sczakiel, H. L., Boschann, F., Misra-Isrie, M., Louie, R. J., Stolerman, E. S., Sanchez-Lara, P. A., Mergler, S., Oegema, R., Zarate, Y. A., Kariminejad, A., Tajsharghi, H., Zeidler, S., Kievit, A. J. A., Bouman, A., Cappuccio, G., Brunetti-Pierri, N., Stuurman, K. E., Swols, D. M., Tekin, M., Upadia, J., Martin, D. M., Craven, D., Hiatt, S. M., van de Pol, L. A., D'Arco, F., Margot, H., Wilke, M., Yousefi, S., Barakat, T. S., van Veghel-Plandsoen, M. M., Aronica, E., Anink, J., Rogers, S. L., Slep, K. C., Doherty, D., Dobyns, W. B. & Mancini, G. M. S., 2 Oct 2025, In: American Journal of Human Genetics. 112, 10, p. 2363-2380 18 p.

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

    Open Access
    File
    1 Citation (Web of Science)
    7 Downloads (Pure)
View all 35 research outputs