Amsterdam Reproduction & Development

Perceptions of reproductive healthcare providers regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study

Klein, D., van Dijke, I., van Langen, I. M., Dondorp, W., Lakeman, P., Henneman, L. & Cornel, M. C., 1 Jul 2024, In: Reproductive BioMedicine Online. 49, 1, 103857.

Research output: Contribution to journal › Article › Academic

Developmental epileptic encephalopathy in DLG4-related synaptopathy

Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A., Gómez-Andrés, D., & 44 othersGreiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. V., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., 22 Dec 2023, (E-pub ahead of print) In: Epilepsia.

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

Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 (European Journal of Human Genetics, (2022), 30, 4, (420-427), 10.1038/s41431-021-01018-1)

Wang, J., Foroutan, A., Richardson, E., Skinner, S. A., Reilly, J., Kerkhof, J., Curry, C. J., Tarpey, P. S., Robertson, S. P., Maystadt, I., Keren, B., Dixon, J. W., Skinner, C., Stapleton, R., Ruaud, L., Gumus, E., Lakeman, P., Alders, M., Tedder, M. L., Schwartz, C. E., & 3 othersFriez, M. J., Sadikovic, B. & Stevenson, R. E., 2023, (E-pub ahead of print) In: European journal of human genetics.

Research output: Contribution to journal › Erratum/Corrigendum › Academic › peer-review