Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene von Piceci‐Sparascio, Francesca, Palencia‐Campos, Adrian, Soto‐Bielicka, Patricia, D'Anzi, Angela, Guida, Valentina, Rosati, Jessica, Caparros‐Martin, Jose A., Torrente, Isabella, D'Asdia, M. Cecilia, Versacci, Paolo, Briuglia, Silvana, Lapunzina, Pablo, Tartaglia, Marco, Marino, Bruno, Digilio, M. Cristina, Ruiz‐Perez, Victor L., De Luca, Alessandro

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The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and Forecasting von Hozhabri, Hossein, Piceci Sparascio, Francesca, Sohrabi, Hamidreza, Mousavifar, Leila, Roy, René, Scribano, Daniela, De Luca, Alessandro, Ambrosi, Cecilia, Sarshar, Meysam

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Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance von Traversa, Alice, Marchionni, Enrica, Giovannetti, Agnese, Genovesi, Maria L., Panzironi, Noemi, Margiotti, Katia, Napoli, Giulia, Piceci Sparascio, Francesca, De Luca, Alessandro, Petrizzelli, Francesco, Carella, Massimo, Cardona, Francesco, Bernardo, Silvia, Manganaro, Lucia, Mazza, Tommaso, Pizzuti, Antonio, Caputo, Viviana

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Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect von Ferese, Rosangela, Bonetti, Monica, Consoli, Federica, Guida, Valentina, Sarkozy, Anna, Lepri, Francesca Romana, Versacci, Paolo, Gambardella, Stefano, Calcagni, Giulio, Margiotti, Katia, Piceci Sparascio, Francesca, Hozhabri, Hossein, Mazza, Tommaso, Digilio, Maria Cristina, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno, Hertog, Jeroen den, Luca, Alessandro

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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) von Guida, Valentina, Calzari, Luciano, Fadda, Maria Teresa, Piceci-Sparascio, Francesca, Digilio, Maria Cristina, Bernardini, Laura, Brancati, Francesco, Mattina, Teresa, Melis, Daniela, Forzano, Francesca, Briuglia, Silvana, Mazza, Tommaso, Bianca, Sebastiano, Valente, Enza Maria, Salehi, Leila Bagherjad, Prontera, Paolo, Pagnoni, Mario, Tenconi, Romano, Dallapiccola, Bruno, Iannetti, Giorgio, Corsaro, Luigi, De Luca, Alessandro, Gentilini, Davide

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Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights von Calcagni, Giulio, Pugnaloni, Flaminia, Digilio, Maria Cristina, Unolt, Marta, Putotto, Carolina, Niceta, Marcello, Baban, Anwar, Piceci Sparascio, Francesca, Drago, Fabrizio, De Luca, Alessandro, Tartaglia, Marco, Marino, Bruno, Versacci, Paolo

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A novel ANO3 variant in two siblings with different phenotypes von Esposito, Marcello, Trinchillo, Assunta, Piceci-Sparascio, Francesca, D'Asdia, Maria Cecilia, Consoli, Federica, De Luca, Alessandro

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POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy von De Dominicis, Angela, Stregapede, Fabrizia, Colona, Vito Luigi, Nicita, Francesco, Sartorelli, Jacopo, Sparascio, Francesca Piceci, Terracciano, Alessandra, Novelli, Antonio, Specchio, Nicola, Bertini, Enrico Silvio, Trivisano, Marina

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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum von Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco

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GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome von Palencia-Campos, Adrian, Ullah, Asmat, Nevado, Julian, Yildirim, Ruken, Unal, Edip, Ciorraga, Maria, Barruz, Pilar, Chico, Lucia, Piceci-Sparascio, Francesca, Guida, Valentina, De Luca, Alessandro, Kayserili, Hülya, Ullah, Irfan, Burmeister, Margit, Lapunzina, Pablo, Ahmad, Wasim, Morales, Aixa V, Ruiz-Perez, Victor L

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome von Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Van Hul, Wim, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud Y., Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skålhegg, Bjørn Steen, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S., Ruiz-Perez, Victor L.

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Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia von Iturrate, Asier, Rivera-Barahona, Ana, Flores, Carmen-Lisset, Otaify, Ghada A., Elhossini, Rasha, Perez-Sanz, Marina L., Nevado, Julián, Tenorio-Castano, Jair, Triviño, Juan Carlos, Garcia-Gonzalo, Francesc R., Piceci-Sparascio, Francesca, De Luca, Alessandro, Martínez, Leopoldo, Kalaycı, Tugba, Lapunzina, Pablo, Altunoglu, Umut, Aglan, Mona, Abdalla, Ebtesam, Ruiz-Perez, Victor L.

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FOXI3 pathogenic variants cause one form of craniofacial microsomia von 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.

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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules von Mastromoro, Gioia, Santoro, Claudia, Motta, Marialetizia, Sorrentino, Ugo, Daniele, Paola, Peduto, Cristina, Petrizzelli, Francesco, Tripodi, Martina, Pinna, Valentina, Zanobio, Mariateresa, Rotundo, Giovannina, Bellacchio, Emanuele, Lepri, Francesca, Farina, Antonella, D’Asdia, Maria Cecilia, Piceci-Sparascio, Francesca, Biagini, Tommaso, Petracca, Antonio, Castori, Marco, Melis, Daniela, Accadia, Maria, Traficante, Giovanna, Tarani, Luigi, Fontana, Paolo, Sirchia, Fabio, Paparella, Roberto, Currò, Aurora, Benedicenti, Francesco, Scala, Iris, Dentici, Maria Lisa, Leoni, Chiara, Trevisan, Valentina, Cecconi, Antonella, Giustini, Sandra, Pizzuti, Antonio, Salviati, Leonardo, Novelli, Antonio, Zampino, Giuseppe, Zenker, Martin, Genuardi, Maurizio, Digilio, Maria Cristina, Papi, Laura, Perrotta, Silverio, Nigro, Vincenzo, Castellanos, Elisabeth, Mazza, Tommaso, Trevisson, Eva, Tartaglia, Marco, Piluso, Giulio, De Luca, Alessandro

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Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome von 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

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Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects von Guida, Valentina, Sparascio, Francesca Piceci, Bernardini, Laura, Pancheri, Francesco, Melis, Daniela, Cocciadiferro, Dario, Pagnoni, Mario, Puzzo, Marianna, Goldoni, Marina, Barone, Chiara, Hozhabri, Hossein, Putotto, Carolina, Giuffrida, Maria Grazia, Briuglia, Silvana, Palumbo, Orazio, Bianca, Sebastiano, Stanzial, Franco, Benedicenti, Francesco, Kariminejad, Ariana, Forzano, Francesca, Baghernajad Salehi, Leila, Mattina, Teresa, Brancati, Francesco, Castori, Marco, Carella, Massimo, Fadda, Maria Teresa, Iannetti, Giorgio, Dallapiccola, Bruno, Digilio, Maria Cristina, Marino, Bruno, Tartaglia, Marco, De Luca, Alessandro

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome von Palencia-Campos, Adrian, Aoto, Phillip C, Machal, Erik M.F, Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Hul, Wim Van, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S, Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F, Schneider, Amy L, Scheffer, Ingrid E, Kibaek, Maria, Kristiansen, Britta S, Issa, Mahmoud Y, Mehrez, Mennat, Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skalhegg, Bjorn Steen, Otaify, Ghada A, Temtamy, Samia, Aglan, Mona, Jonch, Aia E, De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valerie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W, Taylor, Susan S, Ruiz-Perez, Victor L

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Cover Image, Volume 39, Issue 10 von Ferese, Rosangela, Bonetti, Monica, Consoli, Federica, Guida, Valentina, Sarkozy, Anna, Lepri, Francesca Romana, Versacci, Paolo, Gambardella, Stefano, Calcagni, Giulio, Margiotti, Katia, Piceci Sparascio, Francesca, Hozhabri, Hossein, Mazza, Tommaso, Digilio, Maria Cristina, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno, Hertog, Jeroen den, De Luca, Alessandro

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