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Clinical Relevance of IFT140 Loss-of-Function Variants in Development of Renal Cysts Cristalli, Carlotta Pia; Calabrese, Sara; Caramanna, Luca; Pietra, Andrea; Vitetta, Giulia; De Nicolo, Bianca; Bonora, Elena; Severi, Giulia; Menabo, Soara; Ferrari, Simona; Ciurli, Francesca; Aiello, Valeria; Capelli, Irene; Pasini, Andrea; Alberici, Irene; Pillon, Roberto; La Scola, Claudio; Rossi, Cesare; Montanari, Francesca; Graziano, Claudio Share Save
Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype Rondoni, Michela; Marconi, Giovanni; Nicoletti, Annalisa; Giannini, Barbara; Zuffa, Elisa; Giannini, Maria Benedetta; Mianulli, Annamaria; Norata, Marianna; Monaco, Federica; Zaccheo, Irene; Rocchi, Serena; Zannetti, Beatrice Anna; Santoni, Adele; Graziano, Claudio; Bocchia, Monica; Lanza, Francesco Share Save
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations Guillouet, Charlotte; Agostini, Valeria; Baujat, Genevieve; Cocciadiferro, Dario; Pippucci, Tommaso; Lesieur-Sebellin, Marion; Georget, Mathieu; Schatz, Ulrich; Fauth, Christine; Louie, Raymond J.; Rogers, Curtis; Davis, Jessica M.; Konstantopoulou, Vassiliki; Mayr, Johannes A.; Bouman, Arjan; Wilke, Martina; VanNoy, Grace E.; England, Eleina M.; Park, Kristen L.; Brown, Kathleen; Saenz, Margarita; Novelli, Antonio; Digilio, Maria Cristina; Mastromoro, Gioia; Rongioletti, Mauro Ciro Antonio; Piacentini, Gerardo; Kaiyrzhanov, Rauan; Guliyeva, Sughra; Hasanova, Lala; Shears, Deborah; Bhatnagar, Ishita; Stals, Karen; Klaas, Oliver; Horvath, Judit; Bouvagnet, Patrice; Witmer, P. Dane; MacCarrick, Gretchen; Cisarova, Katarina; Good, Jean-Marc; Gorokhova, Svetlana; Boute, Odile; Smol, Thomas; Bruel, Ange-Line; Patat, Olivier; Broadbent, Julia R.; Tan, Tiong Y.; Tan, Natalie B.; Lyonnet, Stanislas; Busa, Tiffany; Graziano, Claudio; Amiel, Jeanne; Gordon, Christopher T. Share Save
A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy Carigi, Samuela; Olivucci, Giulia; Cristalli, Carlotta Pia; Marzo, Francesca; Isidori, Federica; Palmieri, Silvia; Schiavo, Maria Alessandra; Gualandi, Francesca; Amati, Silvia; Rocchetti, Luca Maria; Parmeggiani, Giulia; Monti, Luigi; Gardini, Elisa; Bartolotti, Michela; Gobbi, Milva; Di Cesare, Anna Maria; Luisi, Giovanni Andrea; Graziosi, Maddalena; Biagini, Elena; Potena, Luciano; Rossi, Cesare; Diquigiovanni, Chiara; Ottani, Filippo; Graziano, Claudio 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
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability Roychaudhury, Arkaprava; Lee, Yu-Ri; Choi, Tae-Ik; Thomas, Mervyn G.; Khan, Tahir N.; Yousaf, Hammad; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S.; Kim, Tae-Yoon; Lee, Kang-Han; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N.; Hammer, Michael F.; Gottlob, Irene; Norton, William H. J.; Gerlai, Robert; Kim, Hyung-Goo; Graziano, Claudio; Pippucci, Tommaso; Iovino, Emanuela; Montanari, Francesca; Severi, Giulia; Toro, Camilo; Boerkoel, Cornelius F.; Cha, Hyo Sun; Choi, Cheol Yong; Kim, Sungjin; Yoon, Je-Hyun; Gilmore, Kelly; Vora, Neeta L.; Davis, Erica E.; Chudley, Albert E.; Schwartz, Charles E.; Kim, Cheol-Hee Share Save
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population Spedicati, Beatrice; Santin, Aurora; Nardone, Giuseppe Giovanni; Rubinato, Elisa; Lenarduzzi, Stefania; Graziano, Claudio; Garavelli, Livia; Miccoli, Sara; Bigoni, Stefania; Morgan, Anna; Girotto, Giorgia Share Save
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations Dias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E. R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Sacoto, Maria J. Guillen; Mullegama, Sureni, V; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony Share Save
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-Garcia, Marta; Magini, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernandez-Jaen, Alberto; Rory, Olson J.; Hallgrimsson, Benedikt; Birnbaum, Ramon Y. Share Save
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N.; Ritter, Alyssa L.; Leonard, Jacqueline M. M.; Savatt, Juliann M.; Douglass, Kristen; Myers, Scott M.; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C. E.; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andrew; Crunk, Amy; Tokita, Mari J.; de Lange, Iris M.; van Gassen, Koen; Robinson, Hannah; Guegan, Katie; Suri, Mohnish; Patel, Chirag; Bournez, Marie; Faivre, Laurence; Tran-Mau-Them, Frederic; Baker, Janice; Fabie, Noelle; Weaver, K.; Shillington, Amelle; Hopkin, Robert J.; Barge-Schaapveld, Daniela Q. C. M.; Al Ruivenkamp, Claudia; Bokenkamp, Regina; Vergano, Samantha; Moro, Maria Noelia Seco; de Bustamante, Aranzazu Diaz; Misra, Vinod K.; Kennelly, Kelly; Rogers, Caleb; Friedman, Jennifer; Wigby, Kristen M.; Lenberg, Jerica; Graziano, Claudio; Ahrens-Nicklas, Rebecca C.; Lefebvre, Veronique Share Save
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PURA-Related Developmental and Epileptic Encephalopathy Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P. W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amelie; Faivre, Laurence; Garde, Aurore; Moutton, Sebastien; Tran-Mau-Them, Frederic; Denomme-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J.; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lia; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S.; Naidu, SakkuBai R.; Collier, Ashley; Brilstra, Eva H.; Li, Mindy H.; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A.; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Goes, Fernanda; Leventer, Richard J.; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V.; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S.; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Gronborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L.; Helbig, Ingo; Ortiz-Gonzalez, Xilma R.; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Moller, Rikke S.; Rubboli, Guido Share Save
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I Riva, Matteo; Martorana, Davide; Uliana, Vera; Caleffi, Edoardo; Boschi, Elena; Garavelli, Livia; Ponti, Giovanni; Sangiorgi, Luca; Graziano, Claudio; Bigoni, Stefania; Rocchetti, Luca Maria; Madeo, Simona; Soli, Fiorenza; Grosso, Enrico; Carli, Diana; Goldoni, Matteo; Pisani, Francesco; Percesepe, Antonio Share Save
Coronary Artery Aneurysms in Patients With Marfan Syndrome: Frequent, Progressive, and Relevant Mariucci, Elisabetta; Bonori, Lisa; Lovato, Luigi; Graziano, Claudio; Ciuca, Cristina; Pacini, Davide; Di Marco, Luca; Angeli, Emanuela; Careddu, Lucio; Gargiulo, Gaetano; Donti, Andrea Share Save
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study Nuovo, Sara; Micalizzi, Alessia; Romaniello, Romina; Arrigoni, Filippo; Ginevrino, Monia; Casella, Antonella; Serpieri, Valentina; D'Arrigo, Stefano; Briguglio, Marilena; Salerno, Grazia Gabriella; Rossato, Sara; Sartori, Stefano; Leuzzi, Vincenzo; Battini, Roberta; Ben-Zeev, Bruria; Graziano, Claudio; Mirabelli Badenier, Marisol; Brankovic, Vesna; Nardocci, Nardo; Spiegel, Ronen; Petkovic Ramadza, Danijela; Vento, Giovanni; Marti, Itxaso; Simonati, Alessandro; Dipresa, Savina; Freri, Elena; Mazza, Tommaso; Bassi, Maria Teresa; Bosco, Luca; Travaglini, Lorena; Zanni, Ginevra; Bertini, Enrico Silvio; Vanacore, Nicola; Borgatti, Renato; Valente, Enza Maria Share Save
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome Amenta, Simona; Frangella, Silvia; Marangi, Giuseppe; Lattante, Serena; Ricciardi, Stefania; Doronzio, Paolo Niccolo; Orteschi, Daniela; Veredice, Chiara; Contaldo, Ilaria; Zampino, Giuseppe; Gentile, Mattia; Scarano, Emanuela; Graziano, Claudio; Zollino, Marcella Share Save
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes Zivna, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyletal, Petr; Baresova, Veronika; Hodanova, Katerina; Sovova, Jana; Hartmannova, Hana; Votruba, Miroslav; Treslova, Helena; Jedlickova, Ivana; Sikora, Jakub; Hulkova, Helena; Robins, Victoria; Hnizda, Ales; Zivny, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B.; Wenzel, Andrea; Tory, Kalman; Haeeffner, Karsten; Wolf, Matthias T. F.; Bleyer, Michael E.; Sayer, John A.; Ong, Albert C. M.; Balogh, Lidia; Jakubowska, Anna; Laszkiewicz, Agnieszka; Clissold, Rhian; Shaw-Smith, Charles; Munshi, Raj; Haws, Robert M.; Izzi, Claudia; Capelli, Irene; Santostefano, Marisa; Graziano, Claudio; Scolari, Francesco; Sussman, Amy; Trachtman, Howard; Decramer, Stephane; Matignon, Marie; Grimbert, Philippe; Shoemaker, Lawrence R.; Stavrou, Christoforos; Abdelwahed, Mayssa; Belghith, Neila; Sinclair, Matthew; Claes, Kathleen; Kopel, Tal; Moe, Sharon; Deltas, Constantinos; Knebelmann, Bertrand; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J. Share Save
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