List of Publications
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ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
Hyder Z, van Paesschen W, Sabir A, Sansbury FH, Burke KB, Khan N, Chandler KE, Cooper NS, Wright R, McHale E, van Esch H, Banka S
European journal of human genetics : EJHG. 2021;29(9):1377–83.
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Growth charts in Kabuki syndrome 1.
Ruault, V., Corsini, C., Duflos, C., Akouete, S., Georgescu, V., Abaji, M., Alembick, Y., Alix, E., Amiel, J., Amouroux, C., Barat-Houari, M., Baumann, C., Bonnard, A., Boursier, G., Boute, O., Burglen, L., Busa, T., Cordier, M.-P., Cormier-Daire, V., … Geneviève, D. (2020).
American Journal of Medical Genetics. Part A, 182(3), 446–453. https://doi.org/10.1002/ajmg.a.61462
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Pränatale Diagnostik und postnatale Komplikationen im Fall einer extrem seltenen Tetraamelie.
Schwickert, A., Dame, C., Akanbi, S., Spielmann, M., Schönborn, I., & Henrich, W. (2021)
Zeitschrift Für Geburtshilfe Und Neonatologie, 225(03), 279–282. https://doi.org/10.1055/a-1250-8957
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TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
Sferra, A., Petrini, S., Bellacchio, E., Nicita, F., Scibelli, F., Dentici, M. L., Alfieri, P., Cestra, G., Bertini, E. S., & Zanni, G. (2020).
International Journal of Molecular Sciences, 21(4). https://doi.org/10.3390/ijms21041385
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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Smith, M., Alexander, E., Marcinkute, R., Dan, D., Rawson, M., Banka, S., Gavin, J., Mina, H., Hennessy, C., Riccardi, F., Radio, F. C., Havlovicova, M., Cassina, M., Emandi, A. C., Fradin, M., Gompertz, L., Nordgren, A., Traberg, R., Rossi, M., … ERN ITHACA. (2020).
Orphanet Journal of Rare Diseases, 15(1), 103. https://doi.org/10.1186/s13023-020-1349-1
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Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France.
F., Antomarchi, J., Moceri, P., Paquis-Flucklinger, V., D’Ercole, C., & Bretelle, F. (2020).
PloS One, 15(10), e0239476. https://doi.org/10.1371/journal.pone.0239476
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Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS
ingaud‐Sequeira, A., Trimouille, A., Marlin, S., Lopez, E., Berenguer, M., Gherbi, S., Arveiler, B., Lacombe, D., & Rooryck, C. (2020).
Molecular Genetics & Genomic Medicine, 8(10). https://doi.org/10.1002/mgg3.1375
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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