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Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies Mattioli, Francesca; Fridriksdottir, Run; Hebert, Anne; Bassani, Sissy; Ibrahim, Nazia; Naz, Shagufta; Chrast, Jacqueline; Pailler-Pradeau, Clara; Oddsson, Asmundur; Sulem, Patrick; Halldorsson, Gisli H.; Melsted, Pall; Guobjartsson, Daniel F.; Palombo, Flavia; Pippucci, Tommaso; Nouri, Nayereh; Seri, Marco; Farrow, Emily G.; Saunders, Carol J.; Guex, Nicolas; Ansar, Muhammad; Stefansson, Kari; Reymond, Alexandre Share Save
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The impact of schizophrenia genetic load and heavy cannabis use on the risk of psychotic disorder in the EU-GEI case-control and UK Biobank studies Austin-Zimmerman, Isabelle; Spinazzola, Edoardo; Quattrone, Diego; Wu-Choi, Beatrice; Trotta, Giulia; Li, Zhikun; Johnson, Emma; Richards, Alexander L.; Freeman, Tom P.; Tripoli, Giada; Gayer-Anderson, Charlotte; Rodriguez, Victoria; Jongsma, Hannah E.; Ferraro, Laura; La Cascia, Caterina; Tosato, Sarah; Tarricone, Ilaria; Berardi, Domenico; Bonora, Elena; Seri, Marco; D'Andrea, Giuseppe; Szoeke, Andrei; Arango, Celso; Bobes, Julio; Sanjuan, Julio; Santos, Jose Luis; Arrojo, Manuel; Velthorst, Eva; Bernardo, Miguel; Del-Ben, Cristina Marta; Rossi Menezes, Paulo; Selten, Jean-Paul; Jones, Peter B.; Kirkbride, James B.; Rutten, Bart P. F.; Tortelli, Andrea; Llorca, Pierre-Michel; de Haan, Lieuwe; Stilo, Simona; La Barbera, Daniele; Lasalvia, Antonio; Schurnhoff, Franck; Pignon, Baptiste; van Os, Jim; Lynskey, Michael; Morgan, Craig; O'Donovan, Michael; Lewis, Cathryn M.; Sham, Pak C.; Murray, Robin M.; Vassos, Evangelos; Di Forti, Marta Share Save
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Mau-Them, Frederic Tran; Wentzensen, Ingrid M.; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Genevieve, David; Louie, Raymond J.; Lyons, Michael J.; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Juul, Trine Maxel; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cecile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R.; Mitani, Tadahiro; Posey, Jennifer E.; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A.; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James R.; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jerome; Dermaut, Bart; Vitobello, Antonio Share Save
Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: A cross-sectional study and meta-analysis Vornetti, Gianfranco; De Martino, Sara Rosa Maria; Baroni, Maria Chiara; Rossi, Cesare; Seri, Marco; Mariucci, Elisabetta; Donti, Andrea; Tonon, Caterina; Lodi, Raffaele; Spinardi, Luca Share Save
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nardi, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L.; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso Share Save
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome Alfieri, Paolo; Macchiaiolo, Marina; Collotta, Martina; Montanaro, Federica Alice Maria; Caciolo, Cristina; Cumbo, Francesca; Galassi, Paolo; Panfili, Filippo Maria; Cortellessa, Fabiana; Zollino, Marcella; Accadia, Maria; Seri, Marco; Tartaglia, Marco; Bartuli, Andrea; Mammi, Corrado; Vicari, Stefano; Priolo, Manuela Share Save
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy Gozzelino, Luca; Kochlamazashvili, Gaga; Baldassari, Sara; Mackintosh, Albert Ian; Licchetta, Laura; Iovino, Emanuela; Liu, Yu Chi; Bennett, Caitlin A.; Bennett, Mark F.; Damiano, John A.; Zsurka, Gabor; Marconi, Caterina; Giangregorio, Tania; Magini, Pamela; Kuijpers, Marijn; Maritzen, Tanja; Norata, Giuseppe Danilo; Baulac, Stephanie; Canafoglia, Laura; Seri, Marco; Tinuper, Paolo; Scheffer, Ingrid E.; Bahlo, Melanie; Berkovic, Samuel F.; Hildebrand, Michael S.; Kunz, Wolfram S.; Giordano, Lucio; Bisulli, Francesca; Martini, Miriam; Haucke, Volker; Hirsch, Emilio; Pippucci, Tommaso Share Save
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report Macchiaiolo, Marina; Panfili, Filippo M.; Vecchio, Davide; Gonfiantini, Michaela V.; Cortellessa, Fabiana; Caciolo, Cristina; Zollino, Marcella; Accadia, Maria; Seri, Marco; Chinali, Marcello; Mammi, Corrado; Tartaglia, Marco; Bartuli, Andrea; Alfieri, Paolo; Priolo, Manuela Share Save
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy Usmani, Muhammad A.; Ahmed, Zubair M.; Magini, Pamela; Pienkowski, Victor Murcia; Rasmussen, Kristen J.; Hernan, Rebecca; Rasheed, Faiza; Hussain, Mureed; Shahzad, Mohsin; Lanpher, Brendan C.; Niu, Zhiyv; Lim, Foong-Yen; Pippucci, Tommaso; Ploski, Rafal; Kraus, Verena; Matuszewska, Karolina; Palombo, Flavia; Kianmahd, Jessica; Martinez-Agosto, Julian A.; Lee, Hane; Colao, Emma; Motazacker, M. Mahdi; Brigatti, Karlla W.; Puffenberger, Erik G.; Riazuddin, S. Amer; Gonzaga-Jauregui, Claudia; Chung, Wendy K.; Wagner, Matias; Schultz, Matthew J.; Seri, Marco; Kievit, Anneke J. A.; Perrotti, Nicola; Wassink-Ruiter, J. S. Klein; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima Share Save
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Bergamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K.; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja; MacInnes, Alyson; Alders, Mariel; Engelen, Marc; Linthorst, Gabor; de Koning, Tom; den Dunnen, Wilfred; Dijkstra, Gerard; van Spaendonck, Karin; van Gent, Dik C.; Aronica, Eleonora M.; Picco, Paolo; Carelli, Valerio; Seri, Marco; Katsanis, Nicholas; Duijkers, Floor A. M.; Taniguchi-Ikeda, Mariko; De Giorgio, Roberto Share Save
Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration Zama, Daniele; Conti, Francesca; Moratti, Mattia; Cantarini, Maria E.; Facchini, Elena; Rivalta, Beatrice; Rondelli, Roberto; Prete, Arcangelo; Ferrari, Simona; Seri, Marco; Pession, Andrea Share Save
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation Faleschini, Michela; Papa, Nicole; Morel-Kopp, Marie-Christine; Marconi, Caterina; Giangregorio, Tania; Melazzini, Federica; Bozzi, Valeria; Seri, Marco; Noris, Patrizia; Pecci, Alessandro; Savoia, Anna; Bottega, Roberta Share Save
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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum 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; Fernandez-Jaen, 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.; Alvarez, Sara; Martinez-Garcia, Monica; 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 Share Save
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations Isidori, Federica; Bozzarelli, Isotta; Mastracci, Luca; Malvi, Deborah; Lugaresi, Marialuisa; Molinari, Chiara; Soderstrom, Henna; Rasanen, Jari; D'Errico, Antonia; Fiocca, Roberto; Seri, Marco; Krishnadath, Kausilia K.; Bonora, Elena; Mattioli, Sandro Share Save
ACE2gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population Benetti, Elisa; Tita, Rossella; Spiga, Ottavia; Ciolfi, Andrea; Birolo, Giovanni; Bruselles, Alessandro; Doddato, Gabriella; Giliberti, Annarita; Marconi, Caterina; Musacchia, Francesco; Pippucci, Tommaso; Torella, Annalaura; Trezza, Alfonso; Valentino, Floriana; Baldassarri, Margherita; Brusco, Alfredo; Asselta, Rosanna; Bruttini, Mirella; Furini, Simone; Seri, Marco; Nigro, Vincenzo; Matullo, Giuseppe; Tartaglia, Marco; Mari, Francesca; Renieri, Alessandra; Pinto, Anna Maria Share Save
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East Palombo, Flavia; Graziano, Claudio; Al Wardy, Nadia; Nouri, Nayereh; Marconi, Caterina; Magini, Pamela; Severi, Giulia; La Morgia, Chiara; Cantalupo, Gaetano; Cordelli, Duccio Maria; Gangarossa, Simone; Al Kindi, Mohammed Nasser; Al Khabouri, Mazin; Salehi, Mansoor; Giorgio, Elisa; Brusco, Alfredo; Pisani, Francesco; Romeo, Giovanni; Carelli, Valerio; Pippucci, Tommaso; Seri, Marco Share Save
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (vol 13, 22, 2020) Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M.; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J.; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A.; Banka, Siddharth Share Save
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