NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L) von Salemi, Michele, Mandarà, Luana G.M., Salluzzo, Maria Grazia, Schillaci, Francesca A., Castiglione, Roberto, Cordella, Angela, Iorio, Roberta, Perrotta, Concetta Simona, Ferri, Raffaele, Romano, Corrado

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JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects von de Filippis, Tiziana, Marelli, Federica, Nebbia, Gabriella, Porazzi, Patrizia, Corbetta, Sabrina, Fugazzola, Laura, Gastaldi, Roberto, Vigone, Maria Cristina, Biffanti, Roberta, Frizziero, Daniela, Mandarà, Luana, Prontera, Paolo, Salerno, Mariacarolina, Maghnie, Mohamad, Tiso, Natascia, Radetti, Giorgio, Weber, Giovanna, Persani, Luca

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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants von Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, Girirajan, Santhosh

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Molecular characterization of the First Italian Variant of Phosphoglycerate Kinase Deficiency von Bianchi, Paola, Fermo, Elisa, Mandarà, Luana, Vercellati, Cristina, Marcello, Anna Paola Maria Luisa, Cortelezzi, Agostino, Barcellini, Wilma, Zanella, Alberto

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Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development von Iacomino, Michele, Baldassari, Simona, Tochigi, Yuki, Kosla, Katarzyna, Buffelli, Francesca, Torella, Annalaura, Severino, Mariasavina, Paladini, Dario, Mandara, Luana, Riva, Antonella, Scala, Marcello, Balagura, Ganna, Accogli, Andrea, Nigro, Vincenzo, Minetti, Carlo, Fulcheri, Ezio, Zara, Federico, Bednarek, Andrzej K., Striano, Pasquale, Suzuki, Hiroetsu, Salpietro, Vincenzo

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Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment von Benvenuto, Mario, Palumbo, Pietro, Di Muro, Ester, Perrotta, Concetta Simona, Mazza, Tommaso, Mandarà, Giuseppa Maria Luana, Palumbo, Orazio, Carella, Massimo

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Genetic analysis of genes associated with Mendelian dementia von Dautaj, Astrit, Mandarà, Luana, Tassi, Vittorio, Dhuli, Kristjana, Bertelli, Matteo

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome von Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Aughey, Gabriel N., Al Mutairi, Fuad, Accogli, Andrea, Zara, Federico, Tariq, Huma, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, El Said, Huda G., Al Shalan, Maha, Khang, Rin, Elbendary, Hasnaa M., Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Hannah, Michael G., Bertini, Enrico, Aguennouz, Mhammed, Groppa, Stanislav, Kathom, Hadil, Tincheva, Radka, Verrotti, Alberto, Macaya, Alfons, Garavaglia, Barbara, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Rana, Nuzhat N., Atawneh, Osama, Zuccotti, Gian V., Marseglia, Gian L., Shaikh, Farooq, Corsello, Giovanni, Mangano, Salvatore, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Zollo, Massimo, Berni-Canani, Roberto, Sisto, Antonio, Strano, Federica, Di Francesco, Ludovica, Salayev, Kamran, Xiromerisiou, Georgia, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Di Rosa, Gabriella, Pettoello-Mantovani, Massimo, Tazir, Meriem, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Saadi, Nebal W., Maccarone, Rita, Kara, Majdi, Karimiani, Ehsan G., Seri, Marco, Di-Falco, Giovanna, Barrano, Giuseppe, Operto, Francesca F., Valenzise, Mariella, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Shashkin, Chingiz, Koneyev, Kairgali, Pagnamenta, Alistair T., Corsello, Antonio, Dallapiccola, Bruno, Alobeid, Eman, Mankad, Kshitij, Ghayoor-Karimiani, Ehsan, Chung, Wendy K., Green, Rachel, Alkuraya, Fowzan S., Jepson, James E.C., Houlden, Henry

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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants von Smolen, Corrine, Jensen, Matthew, Dyer, Lisa, Pizzo, Lucilla, Tyryshkina, Anastasia, Banerjee, Deepro, Rohan, Laura, Huber, Emily, El Khattabi, Laila, Prontera, Paolo, Caberg, Jean-Hubert, Van Dijck, Anke, Schwartz, Charles, Faivre, Laurence, Callier, Patrick, Mosca-Boidron, Anne-Laure, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Lockhart, Paul J., Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Luana Mandarà, Giuseppa Maria, Bruccheri, Maria Grazia, Pichon, Olivier, Le Caignec, Cedric, Stoeva, Radka, Cuinat, Silvestre, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Nordsletten, Ashley, Martin-Coignard, Dominique, Sistermans, Erik, Kooy, R. Frank, Amor, David J., Romano, Corrado, Isidor, Bertrand, Juusola, Jane, Girirajan, Santhosh

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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease von Calì, Elisa, Lin, Sheng-Jia, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, El Khorassani, Mohamed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Veggiotti, Pierangelo, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Ibrahim, Shahnaz, Kirmani, Salman, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Alkuraya, Fowzan S., Guliyeva, Ulviyya, Salayev, Kamran, Fiorillo, Chiara, Rissotto, Federico, Gagliano, Antonella, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Magrinelli, Francesca, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Kara, Majdi, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Brancati, Francesco, Di Falco, Giovanna, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Alesse, Edoardo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Parisi, Pasquale, Genomics, Queen Square, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Nardello, Rosaria, Ognibene, Marzia, Ruggieri, Martino, Zara, Federico, Abi Warde, Marie Therese, Gerard, Benedicte, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Varshney, Gaurav, Salpietro, Vincenzo

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Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform von Calì, Francesco, Chiavetta, Valeria, Ruggeri, Giuseppa, Piccione, Maria, Selicorni, Angelo, Palazzo, Daniela, Bonsignore, Maria, Cereda, Anna, Elia, Maurizio, Failla, Pinella, Figura, Maria Grazia, Fiumara, Agata, Maitz, Silvia, Luana Mandarà, Giuseppa Maria, Mattina, Teresa, Ragalmuto, Alda, Romano, Corrado, Ruggieri, Martino, Salluzzo, Roberto, Saporoso, Antonino, Schepis, Carmelo, Sorge, Giovanni, Spanò, Maria, Tortorella, Gaetano, Romano, Valentino

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Identification of a Novel IFOXP1/I Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment von Benvenuto, Mario, Palumbo, Pietro, Di Muro, Ester, Perrotta, Concetta Simona, Mazza, Tommaso, Mandarà, Giuseppa Maria Luana, Palumbo, Orazio, Carella, Massimo

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A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization von Fermo, Elisa, Bianchi, Paola, Chiarelli, Laurent Roberto, Maggi, Maristella, Mandarà, Giuseppa Maria Luana, Vercellati, Cristina, Marcello, Anna Paola, Barcellini, Wilma, Cortelezzi, Agostino, Valentini, Giovanna, Zanella, Alberto

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A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis von Calì, Francesco, Mandarà, Giuseppa Maria Luana, Ruggeri, Giuseppa, Romano, Corrado, Chiavetta, Valeria, Ragalmuto, Alda, Salluzzo, Roberto, Romano, Valentino, Tardanico, Marilena Galati, Schepis, Carmelo

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Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment von Benvenuto, Mario, Palumbo, Pietro, Di Muro, Ester, Perrotta, Concetta Simona, Mazza, Tommaso, Mandarà, Giuseppa Maria Luana, Palumbo, Orazio, Carella, Massimo

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Kisspeptin/GnRH1 system in Leydig cells of horse (Equus caballus): Presence and function von Petrucci, Linda, Maranesi, Margherita, Verini Supplizi, Andrea, Dall’Aglio, Cecilia, Mandara, Maria Teresa, Quassinti, Luana, Bramucci, Massimo, Miano, Antonino, Gobbetti, Anna, Catone, Giuseppe, Boiti, Cristiano, Zerani, Massimo

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