Rots, D., Choufani, S., Faundes, V., Dingemans, A. J. M., Joss, S.,
Foulds, N., Jones, E. A., Stewart, S., Vasudevan, P., Dabir, T.,
Park, S.-M., Jewell, R., Brown, N., Pais, L., Jacquemont, S., Jizi,
K., Ravenswaaij-Arts, C. M. A. V.,
Kroes, H. Y., Stumpel, C. T. R. M. & Ockeloen, C. W.& 84 others, Diets,
I. J., Nizon, M., Vincent, M., Cogné, B., Besnard, T.,
Kambouris, M., Anderson, E., Zackai, E. H., McDougall, C.,
Donoghue, S., O'Donnell-Luria, A., Valivullah, Z., O'Leary, M.,
Srivastava, S., Byers, H., Leslie, N., Mazzola, S., Tiller, G. E.,
Vera, M., Shen, J. J., Boles, R., Jain, V., Brischoux-Boucher, E.,
Kinning, E., Simpson, B. N., Giltay, J. C., Harris, J., Keren, B.,
Guimier, A., Marijon, P., Vries, B. B. A. D., Motter, C. S.,
Mendelsohn, B. A., Coffino, S., Gerkes, E.
H., Afenjar, A., Visconti, P., Bacchelli, E., Maestrini, E.,
Delahaye-Duriez, A., Gooch, C., Hendriks, Y., Adams, H.,
Thauvin-Robinet, C., Josephi-Taylor, S., Bertoli, M., Parker, M.
J., Rutten, J. W., Caluseriu, O., Vernon, H. J., Kaziyev, J., Zhu,
J., Kremen, J., Frazier, Z., Osika, H., Breault, D., Nair, S.,
Lewis, S. M. E., Ceroni, F., Viggiano, M., Posar, A., Brittain, H.,
Giovanna, T., Giulia, G., Quteineh, L., Ha-Vinh Leuchter, R., Zonneveld-Huijssoon, E., Mellado, C., Marey,
I., Coudert, A., Aracena Alvarez, M. I., Kennis, M. G. P., Bouman,
A., Roifman, M., Amorós Rodríguez, M. I.,
Ortigoza-Escobar, J. D., Vernimmen, V., Sinnema, M., Pfundt, R.,
Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Weksberg, R.
& Banka, S., 8-Aug-2024, In: American Journal of Human
Genetics.111, 8, p.
1626-164218 p.
Research output:Contribution to journal ›Article› Academic› peer-review
Koza, S. A., Tabet, A. C., Bonaglia, M.
C., Andres, S., Anderlid, B. M., Aten, E., Stiefsohn, D., the
European Phelan-McDermid syndrome consortium, Evans, D. G.,
van Ravenswaaij-Arts, C. M. A. &
Kant, S. G., Jul-2023, In: European journal of medical
genetics.66, 7, 8
p., 104773.
Research output:Contribution to journal ›Article› Academic› peer-review
the European Phelan-McDermid syndrome consortium,
Damstra, R. J., Vignes, S., Ravenswaaij-Arts, C. V. & Mansour, S.,
Jun-2023, In:
European journal of medical genetics.66, 6,
4 p., 104767.
Research output:Contribution to journal ›Article› Academic› peer-review
ERN ITHACA Guideline Working Group, European
Phelan-McDermid syndrome guideline consortium, van Eeghen,
A. M., Stemkens, D., Fernández-Fructuoso, J. R., Maruani, A.,
Hadzsiev, K. & van Balkom, I. D.
C., Jul-2023, In: European journal of medical
genetics.66, 7, 9
p., 104747.
Research output:Contribution to journal ›Article› Academic› peer-review
Schön, M., Lapunzina, P., Nevado, J., Mattina, T., Gunnarsson,
C., Hadzsiev, K., Verpelli, C., Bourgeron, T., Jesse, S., van Ravenswaaij-Arts, C. M. A., the
European Phelan-McDermid syndrome consortium & Hennekam,
R. C., Jul-2023, In: European journal of medical
genetics.66, 7, 10
p., 104754.
Research output:Contribution to journal ›Article› Academic› peer-review
Vitrac, A., Leblond, C. S., Rolland, T., Cliquet, F., Mathieu, A.,
Maruani, A., Delorme, R., Schön, M., Grabrucker, A. M., van Ravenswaaij-Arts, C., Phelan, K., Tabet,
A. C. & Bourgeron, T., May-2023,
In: European journal of medical
genetics.66, 5, 13
p., 104732.
Research output:Contribution to journal ›Article› Academic› peer-review
van Ravenswaaij-Arts, C. M. A., van Balkom, I. D. C., Jesse, S. &
Bonaglia, M. C., May-2023, In: European journal of medical
genetics.66, 5, 3
p., 104736.
Research output:Contribution to journal ›Editorial› Academic› peer-review
Levitin, M. O., Rawlins, L. E., Sanchez-Andrade, G., Arshad, O. A.,
Collins, S. C., Sawiak, S. J., Iffland, P. H., Andersson, M. H. L.,
Bupp, C., Cambridge, E. L., Coomber, E. L., Ellis, I., Herkert, J. C., Ironfield, H., Jory, L.,
Kretz, P. F., Kant, S. G., Neaverson, A., Nibbeling, E. &
Rowley, C.& 24 others, Relton,
E., Sanderson, M., Scott, E. M., Stewart, H., Shuen, A. Y.,
Schreiber, J., Tuck, L., Tonks, J., Terkelsen, T., van Ravenswaaij-Arts, C., Vasudevan, P.,
Wenger, O., Wright, M., Day, A., Hunter, A., Patel, M., Lelliott,
C. J., Crino, P. B., Yalcin, B., Crosby, A., Baple, E. L., Logan,
D. W., Hurles, M. E. & Gerety, S. S., Nov-2023, In: Brain
: a Journal of Neurology.146, 11,
p. 4766–478318 p.
Research output:Contribution to journal ›Article› Academic› peer-review
Landlust, A. M., Koza, S. A., Carbin,
M., Walinga, M., Robert, S., Cooke, J., Vyshka, K., the
European Phelan-McDermid syndrome consortium, van Balkom, I. D. C. & van Ravenswaaij-Arts, C., Jul-2023, In:
European journal of medical genetics.66, 7,
9 p., 104771.
Research output:Contribution to journal ›Article› Academic› peer-review
Engwerda, A., Frentz, B., Rraku, E., de Souza, N.
F. S., Swertz, M. A., Plantinga, M., Kerstjens-Frederikse, W. S., Ranchor, A. V. & van
Ravenswaaij-Arts, C. M. A., 19-Mar-2023, In:
Orphanet journal of rare diseases.18, 1,
13 p., 60.
Research output:Contribution to journal ›Article› Academic› peer-review
