List of Publications
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Primrose syndrome: Characterization of the phenotype in 42 patients.
Melis D, Carvalho D, Barbaro‐Dieber T, Espay AJ, Gambello MJ, Gener B, Gerkes E, Hitzert MM, Hove HB, Jansen S, Jira PE, Lachlan K, Menke LA, Narayanan V, Ortiz D, Overwater E, Posmyk R, Ramsey K, Rossi A, Sandoval RL, Stumpel C, Stuurman KE, Cordeddu V, Turnpenny P, Strisciuglio P, Tartaglia M, Unger S, Waters T, Turnbull C, Hennekam RC
Clinical Genetics. 2020 Jun 20;97(6):890–901.
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Aortic dilation in Sotos syndrome: An underestimated feature?
Pezzani L, Mauri L, Selicorni A, Peron A, Grasso M, Codazzi AC, Rimini A, Marchisio PG, Coviello D, Colli A, Milani D
American journal of medical genetics Part A. 2020;182(7):1819–23.
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Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation
Cacciatori E, Lelii M, Russo S, Alari V, Masciadri M, Guez S, Patria MF, Marchisio P, Milani D.
American journal of medical genetics Part A. 2020;182(12):2982–7.
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Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5
Aleo S, Milani D, Pansa A, Marchisio P, Guerneri S, Silipigni R
American journal of medical genetics Part A. 2020;182(12):3071–3.
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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