List of Publications
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Neurological phenotype of Potocki-Lupski syndrome
Ciaccio C, Pantaleoni C, Milani D, Alfei E, Sciacca FL, Canafoglia L, Erbetta A, D’Arrigo S.
American journal of medical genetics Part A. 2020;182(10):2317–24.
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, de Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M
American journal of human genetics. 2020;107(3):499–513.
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IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F
Clinical genetics. 2021;99(3):462–74.
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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