Chrast, J., Collins, S. C., Roger, C., Ben-Ayache, S., Auwerx, C., Rogg, P., Vacca, F., Musset, O., Gueneau, L., Emmenegger, Y., Allias, F., Tran-Mau-Them, F., Koboldt, D. C., Pastore, M. T., Truxal, K. V., Rossetti, L. Z., Walker, L., Sadrieh, K., Deardorff, M. A., ... Reymond, A. (2025). Lipid transport is necessary for neocortical lamination. ORBi-University of Liège. https://orbi.uliege.be/handle/2268/338373. doi:10.64898/2025.12.05.692589 |
  | Alkan, S., & Depierreux, F. (20 October 2025). Du cerveau en développement à l'autonomie : enjeux de la transition chez l'adolescent atteint d'une pathologie neurogénétique [Paper presentation]. Inauguration de la polyclinique de pédiatrie du Sart Tilman. |
 | Mouraux, C., Alkan, S., CABERG, J.-H., & Depierreux, F. (August 2025). Association between CACNA1A and ATP1A2 variants are responsible for severe neurodevelopmental disorder. Neuropediatrics, 56 (4), 265-268. doi:10.1055/a-2500-7729  Peer Reviewed verified by ORBi |
 | Alkan, S. (23 May 2025). Rapid Whole Genome Sequencing Demonstrated a KCNT1 Pathogenic Variant in a Neonate With a Severe Early Onset Encephalopathy [Paper presentation]. BSPN sping meeting 2024. |
 | Fouquet, C., Beyens, A., De Rycke, R., Alkan, S., Pottie, L., Callewaert, B., & Harvengt, J. (14 March 2025). Cutis Laxa Type 2E Report of a New Case Highlighting Hypotonia as a Major Feature [Poster presentation]. BeSHG Annual Meeting. |
 | Pantiru, A. D., Van de Sompele, S., Ligneul, C., Chatelain, C., Barrea, C., Lerch, J. P., Filippi, B. M., Alkan, S., De Baere, E., Johnston, J., & Clapcote, S. J. (27 February 2025). Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice. Molecular Autism, 16 (1), 14. doi:10.1186/s13229-025-00650-8 Peer Reviewed verified by ORBi |
  | Mouraux, C., Alkan, S., CABERG, J.-H., & Depierreux, F. (07 February 2025). Hemiplegic migraine genes also cause neurodevelopmental and movement disorders [Poster presentation]. Neurodevelopmental syndromes & movement disorders - International symposium, Barcelone, Spain. Peer reviewed |
 | Boemer, F., Hovhannesyan, K., Piazzon, F., MINNER, F., Mni, M., Jacquemin, V., Mashhadizadeh, D., BENMHAMMED, N., Bours, V., Jacquinet, A., Harvengt, J., Bulk, S., Dideberg, V., Helou, L., Palmeira, L., Dangouloff, T., BabyDetect Expert Panel, Servais, L., Alkan, S. (Other coll.), ... Vaessen, S. (Other coll.). (28 January 2025). Population-based, first-tier genomic newborn screening in the maternity ward. Nature Medicine, 31 (4), 1339-1350. doi:10.1038/s41591-024-03465-x Peer Reviewed verified by ORBi |
 | Vecchio, D., Macchiaiolo, M., Gonfiantini, M. V., Panfili, F. M., Petrizzelli, F., Liorni, N., Cortellessa, F., Sinibaldi, L., Rana, I., Agolini, E., Cocciadiferro, D., Colantoni, N., Semeraro, M., Rizzo, C., Deodati, A., Cotugno, N., Caggiano, S., Verrillo, E., Nucci, C. G., ... Mazza, T. (11 December 2024). Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis. Frontiers in Genetics, 15. doi:10.3389/fgene.2024.1477940 Peer Reviewed verified by ORBi |
 | Harvengt, J., Docampo Martínez, E., Jacquinet, A., Alkan, S., Martin, M., Debray, F.-G., BULK, S., & Bours, V. (12 April 2024). New paradigms in clinical geneticist practice in the era of emerging therapies: examples of two pediatric syndromes [Poster presentation]. BESHG Annual Symposium 2024. Peer reviewed |
 | Lumaka Zola, A., Fasquelle, C., Debray, F.-G., Alkan, S., Jacquinet, A., Harvengt, J., Boemer, F., Mulder, A., VAESSEN, S., Viellevoye, R., Palmeira, L., CHARLOTEAUX, B., Brysse, A., BULK, S., Rigo, V., & Bours, V. (16 February 2023). Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours. International Journal of Molecular Sciences, 24 (4), 4003. doi:10.3390/ijms24044003 Peer Reviewed verified by ORBi |
 | DEPIERREUX, F., & ALKAN, S. (2022). Atypical Hemifacial Spasm and Myoclonus Related to AIFM1 Variant. Neuropediatrics. doi:10.1055/s-0042-1744159 Peer Reviewed verified by ORBi |
 | Vanden Brande, L., ALKAN, S., BARREA, C., & LEROY, P. (January 2022). Comment j’explore. Une macrocéphalie. Revue Médicale de Liège, 77 (1), 56-62. Peer reviewed |
 | HARVENGT, J., ALKAN, S., Florkin, B., BULK, S., & Bours, V. (June 2020). POP1-Skeletal dysplasias : description of two new families [Poster presentation]. European Human Genetics Virtual Conference 2020. |
 | BARREA, C., LEROY, P., DEBRAY, F.-G., ALKAN, S., & Rousselle, L. (2020). Comment j’explore… Un trouble du développement intellectuel chez l'enfant. Revue Médicale de Liège, 75 (10), 686-691. Peer reviewed |
 | ALKAN, S., DEMONCEAU, N., & LEWIN, M. (October 2018). L'image du mois: Atteinte isolée et retardée des ganglions de la base après intoxication à la méthadone. Revue Médicale de Liège, 10 (73), 485-487. Peer reviewed |
 | ALKAN, S., DEMONCEAU, N., & LEWIN, M. (October 2018). L’image du mois: Atteinte isolée et retardée des ganglions de la base après intoxication à la méthadone. Revue Médicale de Liège, 73 (10), 485-487. Peer reviewed |
 | Alkan, S., Stouffs, K., Jansen, A., Misson, J.-P., Verloes, A., & JACQUINET, A. (16 February 2018). Circumferential skin creases and blepharophimosis are features associated with tubulinopathies : a case report and review of literature [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium. |
 | ALKAN, S., LEROY, P., & BULK, S. (16 February 2018). Confirmation of an association between CTNNB1 mutations and hyperekplexia [Poster presentation]. Meeting of the Belgian Society for Human Genetics (BeSHG) : "The Epigenome in development and disease", Ghent, Belgium. |
