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9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms 9q34.11微重复包含SET基因，与神经发育障碍和复发性畸形相关。 De Falco, Alessandro; Vincent, Marie; Vieville, Gaelle; Gauthier, Marjolaine; Dieterich, Klaus; Coutton, Charles; Loddo, Sara; Novelli, Antonio; Dallapiccola, Bruno; Digilio, Maria Cristina; Briuglia, Silvana; Bernardini, Laura; Fontana, Paolo; Madej-pilarczyk, Agnieszka; Mlynek, Marlena; De Falco, Luigia; Acquaviva, Fabio; De Brasi, Daniele; Faivre, Laurence; Dauver, Lucie; Alnuaimi, Nouf; Callier, Patrick; Trevisan, Valentina; Onesimo, Roberta; Leoni, Chiara; Zampino, Giuseppe; Neri, Giovanni; Delplancq, Geoffroy; Perrin, Laurence; White, Susan M.; Guerrini, Renzo; Mei, Davide; Sani, Ilaria; Pantaleo, Marilena; Peron, Angela; Brunetti-pierri, Nicola 分享 收藏
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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cave, Helene; Digilio, Maria Cristina; Tartaglia, Marco 分享 收藏
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism Niceta, Marcello; Ciolfi, Andrea; Ferilli, Marco; Pedace, Lucia; Cappelletti, Camilla; Nardini, Claudia; Hildonen, Mathis; Chiriatti, Luigi; Miele, Evelina; Dentici, Maria Lisa; Gnazzo, Maria; Cesario, Claudia; Pisaneschi, Elisa; Baban, Anwar; Novelli, Antonio; Maitz, Silvia; Selicorni, Angelo; Squeo, Gabriella Maria; Merla, Giuseppe; Dallapiccola, Bruno; Tumer, Zeynep; Digilio, Maria Cristina; Priolo, Manuela; Tartaglia, Marco 分享 收藏
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome 分子证实的Sotos综合征患者的先天性心脏缺陷 Calcagni, Giulio; Ferrigno, Federica; Franceschini, Alessio; Dentici, Maria Lisa; Capolino, Rossella; Sinibaldi, Lorenzo; Minotti, Chiara; Micalizzi, Alessia; Alesi, Viola; Novelli, Antonio; Baban, Anwar; Parlapiano, Giovanni; Coviello, Domenico; Versacci, Paolo; Putotto, Carolina; Chinali, Marcello; Drago, Fabrizio; Bartuli, Andrea; Marino, Bruno; Digilio, Maria Cristina 分享 收藏
Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature Maddaloni, Chiara; Ronci, Sara; De Rose, Domenico Umberto; Bersani, Iliana; Campi, Francesca; Di Nardo, Matteo; Stoppa, Francesca; Adorisio, Rachele; Amodeo, Antonio; Toscano, Alessandra; Digilio, Maria Cristina; Novelli, Antonio; Chello, Giovanni; Braguglia, Annabella; Dotta, Andrea; Calzolari, Flaminia 分享 收藏
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome Liu, Delong; Billington, Charles J.; Raja, Neelam; Wong, Zoe C.; Levin, Mark D.; Resch, Wulfgang; Alba, Camille; Hupalo, Daniel N.; Biamino, Elisa; Bedeschi, Maria Francesca; Digilio, Maria Cristina; Squeo, Gabriella Maria; Villa, Roberta; Parrish, Pheobe C. R.; Knutsen, Russell H.; Osgood, Sharon; Freeman, Joy A.; Dalgard, Clifton L.; Merla, Giuseppe; Pober, Barbara R.; Mervis, Carolyn B.; Roberts, Amy E.; Morris, Colleen A.; Osborne, Lucy R.; Kozel, Beth A. 分享 收藏
Williams-Beuren syndrome shapes the gut microbiota metaproteome Marzano, Valeria; Mortera, Stefano Levi; Vernocchi, Pamela; Del Chierico, Federica; Marangelo, Chiara; Guarrasi, Valerio; Gardini, Simone; Dentici, Maria Lisa; Capolino, Rossella; Digilio, Maria Cristina; Di Donato, Maddalena; Spasari, Iolanda; Abreu, Maria Teresa; Dallapiccola, Bruno; Putignani, Lorenza 分享 收藏
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A.; Farholt, Stense; Ferreira, Carlos R.; Wolfe, Lynne A.; Gahl, William A.; Gnazzo, Maria; Goel, Himanshu; Gronborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A.; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F.; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P.; Sawyer, Sarah; Smeland, Marie Falkenberg; Stegmann, Sander; Stumpel, Constanze T.; Goel, Amy; Taylor, Juliet M.; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan 分享 收藏
Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestations Del Chierico, Federica; Marzano, Valeria; Scanu, Matteo; Reddel, Sofia; Dentici, Maria Lisa; Capolino, Rossella; Di Donato, Maddalena; Spasari, Iolanda; Fiscarelli, Ersilia Vita; Digilio, Maria Cristina; Abreu, Maria Teresa; Dallapiccola, Bruno; Putignani, Lorenza 分享 收藏
FOXI3 pathogenic variants cause one form of craniofacial microsomia Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A.; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C.; Groves, Andrew K.; Lupski, James R.; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E. 分享 收藏
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis Frost, F. Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G.; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M.; Ferreira, Elise A.; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T.; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I.; Steinbach, Peter J.; Huang, Yan; Pusey, Barbara N.; Passemard, Sandrine; Levy, Jonathan; Drunat, Severine; Vincent, Marie; Guet, Agnes; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A.; Murphy, Jennifer L.; Lupski, James R.; Vezina, Gilbert; Macnamara, Ellen F.; Adams, David R.; Acosta, Maria T.; Tifft, Cynthia J.; Gahl, William A.; Malicdan, May Christine V. 分享 收藏
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro 分享 收藏
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P.; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K.; Wigby, Kristen M.; Baralle, Diana; Mehrjardi, Mohammad Y., V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M.; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, Francois; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T.; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E.; Ercan-Sencicek, A. Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C.; Redman, Melody; Stegmann, Alexander P. A.; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Muller, Amelie Johanna; Digilio, Maria C.; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N.; Kraus, Alison; Valenzuela, Irene; McLean, Scott D.; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E.; Torti, Erin; Haack, Tobias B.; Prada, Carlos E.; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza 分享 收藏
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Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 Alesi, Viola; Lepri, Francesca Romana; Dentici, Maria Lisa; Genovese, Silvia; Sallicandro, Ester; Bejo, Kristel; Dallapiccola, Bruno; Capolino, Rossella; Novelli, Antonio; Digilio, Maria Cristina 分享 收藏
Syndromic and Non-Syndromic Patients with Repaired Tetralogy of Fallot: Does It Affect the Long-Term Outcome? Calcagni, Giulio; Calvieri, Camilla; Baban, Anwar; Bianco, Francesco; Barracano, Rosaria; Caputo, Massimo; Madrigali, Andrea; Silva Kikina, Stefani; Perrone, Marco Alfonso; Digilio, Maria Cristina; Pozzi, Marco; Secinaro, Aurelio; Sarubbi, Berardo; Galletti, Lorenzo; Gagliardi, Maria Giulia; de Zorzi, Andrea; Drago, Fabrizio; Leonardi, Benedetta 分享 收藏
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