List of Publications
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
Tolchin, D., Yeager, J. P., Prasad, P., Dorrani, N., Russi, A. S., Martinez-Agosto, J. A., Haseeb, A., Angelozzi, M., Santen, G. W. E., Ruivenkamp, C., Mercimek-Andrews, S., Depienne, C., Kuechler, A., Mikat, B., Ludecke, H.-J., Bilan, F., le Guyader, G., Gilbert-Dussardier, B., Keren, B., … le Caignec, C. (2020).
American Journal of Human Genetics, 106(6), 830–845. https://doi.org/10.1016/j.ajhg.2020.04.015
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Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
Trimouille, A., Marguet, F., Sauvestre, F., Lasseaux, E., Pelluard, F., Martin-Négrier, M.-L., Plaisant, C., Rooryck, C., Lacombe, D., Arveiler, B., Boespflug-Tanguy, O., Naudion, S., & Laquerrière, A. (2020).
Acta Neuropathologica Communications, 8(1), 48. https://doi.org/10.1186/s40478-020-00929-2
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Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3
Trimouille, A., Tingaud‐Sequeira, A., Lacombe, D., Duelund Hjortshøj, T., Kreiborg, S., Buciek Hove, H., & Rooryck, C. (2020)
Clinical Genetics, 98(4), 384–389. https://doi.org/10.1111/cge.13811
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Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition
Trivisano, M., Rivera, M., Terracciano, A., Ciolfi, A., Napolitano, A., Pepi, C., Calabrese, C., Digilio, M. C., Tartaglia, M., Curatolo, P., Vigevano, F., & Specchio, N. (2020).
Epilepsy & Behavior : E&B, 108, 107097. https://doi.org/10.1016/j.yebeh.2020.107097
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The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia
Vakkilainen, S., Kleino, I., Honkanen, J., Salo, H., Kainulainen, L., Gräsbeck, M., Kekäläinen, E., Mäkitie, O., & Klemetti, P. (2020)
Frontiers in Immunology, 11, 2020. https://doi.org/10.3389/fimmu.2020.02020
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Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents
van Remmerden, M. C., Hoogland, L., Mous, S. E., Dierckx, B., Coesmans, M., Moll, H. A., Lubbers, K., Lincken, C. R., & van Eeghen, A. M. (2020)
Journal of Autism and Developmental Disorders, 50(6), 2174–2187. https://doi.org/10.1007/s10803-019-03973-7
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White matter disturbances in major depressive disorder: a coordinated analysis across 20 international cohorts in the ENIGMA MDD working group.
van Velzen, L. S., Kelly, S., Isaev, D., Aleman, A., Aftanas, L. I., Bauer, J., Baune, B. T., Brak, I. v., Carballedo, A., Connolly, C. G., Couvy-Duchesne, B., Cullen, K. R., Danilenko, K. v., Dannlowski, U., Enneking, V., Filimonova, E., Förster, K., Frodl, T., Gotlib, I. H., … Schmaal, L. (2020).
Molecular Psychiatry, 25(7), 1511–1525. https://doi.org/10.1038/s41380-019-0477-2
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ATP1A2- and ATP1A3- associated early profound epileptic encephalopathy and polymicrogyria.
Vetro, A., Nielsen, H. N., Holm, R., Hevner, R. F., Parrini, E., Powis, Z., Møller, R. S., Bellan, C., Simonati, A., Lesca, G., Helbig, K. L., Palmer, E. E., Mei, D., Ballardini, E., van Haeringen, A., Syrbe, S., Leuzzi, V., Cioni, G., Curry, C. J., … Muir, A. (2021).
Brain, 144(5), 1435–1450. https://doi.org/10.1093/brain/awab052
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Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.
Villa, R., Fergnani, V. G. C., Silipigni, R., Guerneri, S., Cinnante, C., Guala, A., Danesino, C., Scola, E., Conte, G., Fumagalli, M., Gangi, S., Colombo, L., Picciolini, O., Ajmone, P. F., Accogli, A., Madia, F., Tassano, E., Scala, M., Capra, V., … Bedeschi, M. F. (2020).
European Journal of Paediatric Neurology, 28, 110–119. https://doi.org/10.1016/j.ejpn.2020.07.002
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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., … Eichler, E. E. (2020).
Nature Communications, 11(1), 4932. https://doi.org/10.1038/s41467-020-18723-y