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Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease Malhotra, Alka; Thorpe, Erin; Coffey, Alison J.; Rajkumar, Revathi; Adjeman, Josephine; Adjetey, Naomi Dianne Naa Adjeley; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C.; Kawome, Martina; Lumaka, Aime; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; Mccarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M.; Salguero, Hildegard Pena; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J.; Perry, Denise L.; Kesari, Akanchha Share Save
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco Share Save
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple cafe-au-lait macules 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; Curro, 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 Share Save
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene Vimercati, Alessandro; Tannorella, Pierpaola; Guzzetti, Sara; Calzari, Luciano; Gentilini, Davide; Manfredini, Emanuela; Gori, Giulia; Gaudino, Rossella; Antona, Vincenzo; Piccione, Maria; Daolio, Cecilia; Auricchio, Renata; Sirchia, Fabio; Minelli, Antonella; Rossi, Elena; Bellini, Melissa; Biasucci, Giacomo; Raucci, Annalisa Russo; Pozzobon, Gabriella; Patti, Giuseppa; Napoli, Flavia; Larizza, Lidia; Maghnie, Mohamad; Russo, Silvia Share Save
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R.; Morelli, Federica; Ramadza, Danijela Petkovic; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria Share Save
The impact of clinical genome sequencing in a global population with suspected rare genetic disease Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C.; del Campo, Miguel; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M.; Urraca, Nora; Bosfield, Kerri; Brown, Chester W.; Lydigsen, Holly; Mroczkowski, Henry J.; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Pena; Lumaka, Aime; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D.; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S.; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E.; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S.; Perry, Denise L.; Belmont, John; Taft, Ryan J. Share Save
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy Perinelli, Martina Giorgia; Naboni, Cecilia; Balagura, Ganna; Amadori, Elisabetta; Vari, Maria Stella; Capra, Valeria; Lentoiou, Camelia; Foiadelli, Thomas; Sirchia, Fabio; Luparia, Antonella; Marseglia, Gianluigi; Ramenghi, Luca A.; Striano, Pasquale Share Save
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Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease David, Clemence; Badonyi, Mihaly; Kechiche, Robin; Insalaco, Antonella; Zecca, Marco; De Benedetti, Fabrizio; Orcesi, Simona; Chiapparini, Luisa; Comoli, Patrizia; Federici, Silvia; Gattorno, Marco; Ginevrino, Monia; Giorgio, Elisa; Matteo, Valentina; Moran-Alvarez, Patricia; Politano, Davide; Prencipe, Giusi; Sirchia, Fabio; Volpi, Stefano; Masson, Cecile; Rice, Gillian I.; Fremond, Marie-Louise; Lepelley, Alice; Marsh, Joseph A.; Crow, Yanick J. Share Save
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SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis Fiandrino, Giacomo; Arossa, Alessia; Ghirardello, Stefano; Kalantari, Silvia; Rossi, Chiara; Bonasoni, Maria Paola; Cesari, Stefania; Rizzuti, Tommaso; Giorgio, Elisa; Bassanese, Francesco; Scatigno, Annachiara Licia; Meroni, Anna; Melito, Chiara; Feltri, Monica; Longo, Stefania; Figar, Tiziana Angelica; Andorno, Annalisa; Gelli, Maria Carolina; Bertozzi, Mirko; Spinillo, Arsenio; Riccipetitoni, Giovanna; Valente, Enza Maria; Paulli, Marco; Sirchia, Fabio Share Save
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When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort Scott, Alexandra; Di Giosaffatte, Niccolo; Pinna, Valentina; Daniele, Paola; Corno, Sara; D'Ambrosio, Valentina; Andreucci, Elena; Marozza, Annabella; Sirchia, Fabio; Tortora, Giada; Mangiameli, Daniela; Di Marco, Chiara; Romagnoli, Maria; Donati, Ilaria; Zonta, Andrea; Grosso, Enrico; Naretto, Valeria Giorgia; Mastromoro, Gioia; Versacci, Paolo; Pantaleoni, Francesca; Radio, Francesca Clementina; Mazza, Tommaso; Damante, Giuseppe; Papi, Laura; Mattina, Teresa; Giancotti, Antonella; Pizzuti, Antonio; Laberge, Anne-Marie; Tartaglia, Marco; Delrue, Marie-Ange; De Luca, Alessandro Share Save
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy Voisin, Norine; Schnur, Rhonda E.; Douzgou, Sofia; Hiatt, Susan M.; Rustad, Cecilie F.; Brown, Natasha J.; Earl, Dawn L.; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A.; Hancarova, Miroslava; Amor, David J.; Bebin, E. Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M.; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkolbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Oystein L.; Hurst, Anna C. E.; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Severine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalova, Darina; Rhodes, Lindsay; Sanders, Victoria R.; Sedlacek, Zdenek; Seebacher, Heidelis A.; Sellars, Elizabeth A.; Sirchia, Fabio; Takenouchi, Toshiki; Tanaka, Akemi J.; Taska-Tench, Heidi; Tonne, Elin; Tveten, Kristian; Vitiello, Giuseppina; Vlckova, Marketa; Uehara, Tomoko; Nava, Caroline; Yalcin, Binnaz; Kosaki, Kenjiro; Donnai, Dian; Mundlos, Stefan; Brunetti-Pierri, Nicola; Chung, Wendy K.; Reymond, Alexandre Share Save
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