IACOMINO, MICHELE
IACOMINO, MICHELE
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children
2023-01-01 Scorrano, G.; D'Onofrio, G.; Accogli, A.; Severino, M.; Buchert, R.; Kotzaeridou, U.; Iapadre, G.; Farello, G.; Iacomino, M.; Dono, F.; Di Francesco, L.; Fiorile, M. F.; La Bella, S.; Corsello, A.; Cali, E.; Di Rosa, G.; Gitto, E.; Verrotti, A.; Fortuna, S.; Soler, M. A.; Chiarelli, F.; Oehl-Jaschkowitz, B.; Haack, T. B.; Zara, F.; Striano, P.; Salpietro, V.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
2022-01-01 Riva, Antonella; Nobile, Giulia; Giacomini, Thea; Ognibene, Marzia; Scala, Marcello; Balagura, Ganna; Madia, Francesca; Accogli, Andrea; Romano, Ferruccio; Tortora, Domenico; Severino, Mariasavina; Scudieri, Paolo; Baldassari, Simona; Musante, Ilaria; Uva, Paolo; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Capra, Valeria; Nobili, Lino; Striano, Pasquale; Mancardi, Maria Margherita; Zara, Federico; Iacomino, Michele
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders
2024-01-01 Iacomino, Michele; Houerbi, Nadia; Fortuna, Sara; Howe, Jennifer; Li, Shan; Scorrano, Giovanna; Riva, Antonella; Cheng, Kai-Wen; Steiman, Mandy; Peltekova, Iskra; Yusuf, Afiqah; Baldassari, Simona; Tamburro, Serena; Scudieri, Paolo; Musante, Ilaria; Di Ludovico, Armando; Guerrisi, Sara; Balagura, Ganna; Corsello, Antonio; Efthymiou, Stephanie; Murphy, David; Uva, Paolo; Verrotti, Alberto; Fiorillo, Chiara; Delvecchio, Maurizio; Accogli, Andrea; Elsabbagh, Mayada; Houlden, Henry; Scherer, Stephen W; Striano, Pasquale; Zara, Federico; Chou, Tsui-Fen; Salpietro, Vincenzo
Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies
2017-01-01 Santolini, Ines; Celli, Roberta; Cannella, Milena; Imbriglio, Tiziana; Guiducci, Michela; Parisi, Pasquale; Schubert, Julian; Iacomino, Michele; Zara, Federico; Lerche, Holger; Moyanova, Slavianka; Ngomba, Richard Teke; van Luijtelaar, Gilles; Battaglia, Giuseppe; Bruno, Valeria; Striano, Pasquale; Nicoletti, Ferdinando; Palotie, Aarno; Folkhälsan, Anna-Elina Lehesjoki; Ruppert, Ann-Kathrin; Siren, Auli; Koeleman, Bobby; Lal, Dennis; Becker, Felicitas; Caglayan, Hande; Hjalgrim, Helle; Muhle, Hiltrud; Thiele, Holger; Helbig, Ingo; Altmuller, Janine; Jabbari, Kamel; Everett, Kate; May, Patrick; Nurnberg, Peter; Møller, Rikke; Nabbout, Rima; Krause, Roland; Balling, Rudi; Baulac, Stephanie; Sander, Thomas; Kunz, Wolfram; Weber, Yvonne; Bianchi, Amedeo; La Neve, Angela; Coppola, Antonietta; Striano, Salvatore; Capovilla, Giuseppe; Ferlazzo, Edoardo; Bagnasco, Irene; Ferretti, Alessandro; Di Bonaventura, Carlo; Vari, Maria Stella; Pinto, Francesca; Bisulli, Francesca; Tinuper, Paolo; Minetti, Carlo; Belcastro, Vincenzo; Giordano, Lucio; Gambardella, Antonio
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019-01-01 Salpietro, V; Dixon, Cl; Guo, H; Bello, Od; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S; Torti, E; Hacke, M; Rankin, J; Tariq, H; Colin, E; Procaccio, V; Striano, P; Mankad, K; Lieb, A; Chen, S; Pisani, L; Bettencourt, C; Männikkö, R; Manole, A; Brusco, A; Grosso, E; Ferrero, Gb; Armstrong-Moron, J; Gueden, S; Bar-Yosef, O; Tzadok, M; Monaghan, Kg; Santiago-Sim, T; Person, Re; Cho, Mt; Willaert, R; Yoo, Y; Chae, Jh; Quan, Y; Wu, H; Wang, T; Bernier, Ra; Xia, K; Blesson, A; Jain, M; Motazacker, Mm; Jaeger, B; Schneider, Al; Boysen, K; Muir, Am; Myers, Ct; Gavrilova, Rh; Gunderson, L; Schultz-Rogers, L; Klee, Ew; Dyment, D; Osmond, M; Parellada, M; Llorente, C; Gonzalez-Peñas, J; Carracedo, A; Van Haeringen, A; Ruivenkamp, C; Nava, C; Heron, D; Nardello, R; Iacomino, M; Minetti, C; Skabar, A; Fabretto, A; SYNAPS Study, Group; Raspall-Chaure, M; Chez, M; Tsai, A; Fassi, E; Shinawi, M; Constantino, Jn; De Zorzi, R; Fortuna, S; Kok, F; Keren, B; Bonneau, D; Choi, M; Benzeev, B; Zara, F; Mefford, Hc; Scheffer, Ie; Clayton-Smith, J; Macaya, A; Rothman, Je; Eichler, Ee; Kullmann, Dm; Houlden, H; Hanna, Mg; Bugiardini, E; Hostettler, I; O'Callaghan, B; Khan, A; Cortese, A; O'Connor, E; Yau, Wy; Bourinaris, T; Kaiyrzhanov, R; Chelban, V; Madej, M; Diana, Mc; Vari, Ms; Pedemonte, M; Bruno, C; Balagura, G; Scala, M; Fiorillo, C; Nobili, L; Malintan, Nt; Zanetti, Mn; Krishnakumar, Ss; Lignani, G; Jepson, Jec; Broda, P; Baldassari, S; Rossi, P; Fruscione, F; Madia, F; Traverso, M; De-Marco, P; Pérez-Dueñas, B; Munell, F; Kriouile, Y; El-Khorassani, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van-Maldergem, L; Nachbauer, W; Boesch, S; Gagliano, A; Amadori, E; Goraya, Js; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Zuccotti, Gv; Ferrari, Md; Van Den Maagdenberg, Amj; Verrotti, A; Marseglia, Gl; Savasta, S; Soler, Ma; Scuderi, C; Borgione, E; Chimenz, R; Gitto, E; Dipasquale, V; Sallemi, A; Fusco, M; Cuppari, C; Cutrupi, Mc; Ruggieri, M; Cama, A; Capra, V; Mencacci, Ne; Boles, R; Gupta, N; Kabra, M; Papacostas, S; Zamba-Papanicolaou, E; Dardiotis, E; Maqbool, S; Rana, N; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Coviello, Da; Dauvilliers, Ya; Alkhawaja, I; Alkhawaja, M; Al-Mutairi, F; Stojkovic, T; Ferrucci, V; Zollo, M; Alkuraya, Fs; Kinali, M; Sherifa, H; Benrhouma, H; Turki, Iby; Tazir, M; Obeid, M; Bakhtadze, S; Saadi, Nw; Zaki, Ms; Triki, Cc; Benfenati, F; Gustincich, S; Kara, M; Belcastro, V; Specchio, N; Capovilla, G; Karimiani, Eg; Salih, Am; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Oguntunde, O; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Senkevich, K; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Haridy, N; Ramenghi, La; Xiromerisiou, G; David, E; Aguennouz, M; Fidani, L; Spanaki, C; Tucci, A.
An interconnected data infrastructure to support large-scale rare disease research
2024-01-01 Johansson, Lennart; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; De Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan Farid, Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; Van De Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; Van Der Velde, K Joeri; Veal, Colin; Van Der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Serg; Swertz Morris, A; Brookes, Anthony; Riess, Olaf; Haack, Tobias; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich Julia, M; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Kellner, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 'T Hoen, Peter; Vissers Lisenka, Elm; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; De Voer Richarda, M; Kamsteeg, Erik-Jan; Van De Warrenburg, Bart; Van Os, Nienke; Te Paske, Iris; Janssen, Erik; De Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes Anthony, J; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan Farid, Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo Chiara, Marini; Manera Jordi, Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut Ivo, Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo', Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou Rabah, Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková Radka, Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali', Elisa; Magrinelli, Francesca; Sisodiya Sanjay, M; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; De Vries, Geert; De Winter, Jonathan; Beijer, Danique; De Jonghe, Peter; Van De Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer Anna, Katharina; Peters, Sophia; Oliveira, Carla; Garcia-Pelaez, Jose; Barbosa-Matos, Rita; José Celina, São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz Morris, A; Johansson, Lennart; Van Der Velde Joeri, K; Van Der Vries, Gerben; Neerincx Pieter, B; Ruvolo, David; Abbott Kristin, M; Frederikse Wilhemina, S Kerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; Van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; De Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De La Paz Manuel, Posada; Sánchez Eva, Bermejo; Martín Estrella, López; Delgado Beatriz, Martínez; De La Rosa, F Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio Francesca, Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar Maria, Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava Clara, Franco; Masó Laura, Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio Andrés, Nascimento; De Benito Daniel, Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery Patrick, F; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Başak Ayşe, Nazlı; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, ; Gijs, W E; Bijlsma, ; Emilia, K; Hoffer, ; Mariette, J V; Ruivenkamp, ; Claudia, A L; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabell; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick
Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy
2021-01-01 Marchese, Francesca; Faedo, Elena; Vari, Maria Stella; Bergonzini, Patrizia; Iacomino, Michele; Guerra, Azzurra; Franceschetti, Laura; Baroni, Alessandra; Scudieri, Paolo; Minetti, Carlo; Striano, Pasquale
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021-01-01 Wiessner, M.; Maroofian, R.; Ni, M. -Y.; Pedroni, A.; Muller, J. S.; Stucka, R.; Beetz, C.; Efthymiou, S.; Santorelli, F. M.; Alfares, A. A.; Zhu, C.; Uhrova Meszarosova, A.; Alehabib, E.; Bakhtiari, S.; Janecke, A. R.; Otero, M. G.; Chen, J. Y. H.; Peterson, J. T.; Strom, T. M.; De Jonghe, P.; Deconinck, T.; De Ridder, W.; De Winter, J.; Pasquariello, R.; Ricca, I.; Alfadhel, M.; Van De Warrenburg, B. P.; Portier, R.; Bergmann, C.; Ghasemi Firouzabadi, S.; Jin, S. C.; Bilguvar, K.; Hamed, S.; Abdelhameed, M.; Haridy, N. A.; Maqbool, S.; Rahman, F.; Anwar, N.; Carmichael, J.; Pagnamenta, A.; Wood, N. W.; Tran Mau-Them, F.; Haack, T.; Di Rocco, M.; Ceccherini, I.; Iacomino, M.; Zara, F.; Salpietro, V.; Scala, M.; Rusmini, M.; Xu, Y.; Wang, Y.; Suzuki, Y.; Koh, K.; Nan, H.; Ishiura, H.; Tsuji, S.; Lambert, L.; Schmitt, E.; Lacaze, E.; Kupper, H.; Dredge, D.; Skraban, C.; Goldstein, A.; Willis, M. J. H.; Grand, K.; Graham, J. M.; Lewis, R. A.; Millan, F.; Duman, O.; Dundar, N.; Uyanik, G.; Schols, L.; Nurnberg, P.; Nurnberg, G.; Catala Bordes, A.; Seeman, P.; Kuchar, M.; Darvish, H.; Rebelo, A.; Boucanova, F.; Medard, J. -J.; Chrast, R.; Auer-Grumbach, M.; Alkuraya, F. S.; Shamseldin, H.; Al Tala, S.; Rezazadeh Varaghchi, J.; Najafi, M.; Deschner, S.; Glaser, D.; Huttel, W.; Kruer, M. C.; Kamsteeg, E. -J.; Takiyama, Y.; Zuchner, S.; Baets, J.; Synofzik, M.; Schule, R.; Horvath, R.; Houlden, H.; Bartesaghi, L.; Lee, H. -J.; Ampatzis, K.; Pierson, T. M.; Senderek, J.
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome
2023-01-01 Scala, Marcello; De Grandis, Elisa; Nobile, Giulia; Iacomino, Michele; Madia, Francesca; Capra, Valeria; Nobili, Lino; Zara, Federico; Striano, Pasquale
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders
2020-01-01 Baldassari, S.; Musante, I.; Iacomino, M.; Zara, F.; SALPIETRO DAMIANO, Vincenzo; Scudieri, P.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
2023-01-01 Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
Chiari malformation type I: what information from the genetics?
2019-01-01 Capra, V.; Iacomino, M.; Accogli, A.; Pavanello, M.; Zara, F.; Cama, A.; De Marco, P.
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues
2022-01-01 Romano, Ferruccio; Madia, Francesca; De Marco, Patrizia; Ognibene, Marzia; Guerrisi, Sara; Scala, Marcello; Iacomino, Michele; Baldassari, Simona; Vercellino, Nadia; Manunza, Francesca; Tallone, Ramona; Pavanello, Marco; Piatelli, Gianluca; Garaventa, Alberto; Zara, Federico; Capra, Valeria
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
2021-01-01 Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo Damiano; Novelli, Giuseppe; De Luca, Chiara; von Stülpnagel, Celina; Kluger, Felicitas; Kluger, Gerhard Josef; Wohlrab, Gabriele Christine; Ramantani, Georgia; Lewis-Smith, David; Thomas, Rhys H; Lai, Ming; Verrotti, Alberto; Striano, Salvatore; Depienne, Christel; Minetti, Carlo; Benfenati, Fabio; Brancati, Francesco; Zara, Federico; Striano, Pasquale
Clinical and molecular consequences of exon 78 deletion in DMD gene
2018-01-01 Traverso, Monica; Assereto, Stefania; Baratto, Serena; Iacomino, Michele; Pedemonte, Marina; Diana, Maria Cristina; Ferretti, Marta; Broda, Paolo; Minetti, Carlo; Gazzerro, Elisabetta; Madia, Francesca; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients
2020-01-01 Balagura, G.; Riva, A.; Marchese, F.; Iacomino, M.; Madia, F.; Giacomini, T.; Mancardi, M. M.; Amadori, E.; Vari, M. S.; Salpietro Damiano, V.; Russo, A.; Messana, T.; Vignoli, A.; Chiesa, V.; Giordano, L.; Accorsi, P.; Caffi, L.; Orsini, A.; Bonuccelli, A.; Santucci, M.; Vecchi, M.; Vanadia, F.; Milito, G.; Fusco, C.; Cricchiutti, G.; Carpentieri, M.; Margari, L.; Spalice, A.; Beccaria, F.; Benfenati, F.; Zara, F.; Striano, P.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
2024-01-01 Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; De Boer, Elke; Schuermans, Nika; Van De Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; De Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; Null, Null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 'T Hoen, Peter A. C.; Steyaert, Wouter; De Voer, Richarda; Kamsteeg, Erik-Jan; Van De Warrenburg, Bart; Van Os, Nienke; Paske, Iris Te; Janssen, Erik; De Boer, Elke; Steehouwer, Marloes; Neveling, Kornelia; Van Der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; De Vries, Geert; De Winter, Jonathan; De Jonghe, Peter; Van De Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Van Der Velde, Joeri K.; Van Der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; Van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; De Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García De La Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia De Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; De Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De La Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; Van Der Veken, Lars; Van Heurck, Roxane; Van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
2024-01-01 Traverso, Monica; Baratto, Serena; Iacomino, Michele; Di Duca, Marco; Panicucci, Chiara; Casalini, Sara; Grandis, Marina; Falace, Antonio; Torella, Annalaura; Picillo, Esther; Onore, Maria Elena; Politano, Luisa; Nigro, Vincenzo; Innes, A. Micheil; Barresi, Rita; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara; Scala, Marcello
De novo GRIN2A variants associated with epilepsy and autism and literature review
2022-01-01 Mangano, Giuseppe Donato; Riva, Antonella; Fontana, Antonina; Salpietro, Vincenzo; Mangano, Giuseppa Renata; Nobile, Giulia; Orsini, Alessandro; Iacomino, Michele; Battini, Roberta; Astrea, Guja; Striano, Pasquale; Nardello, Rosaria
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
2022-01-01 Scala, Marcello; Drouot, Nathalie; Maclennan, Suzanna C; Wessels, Marja W; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margherita; Balagura, Ganna; Galloni, Giovanni Battista; Verrotti, Alberto; Umair, Muhammad; Khan, Amjad; Liebelt, Jan; Schmidts, Miriam; Langer, Thorsten; Brusco, Alfredo; Lipska-Ziętkiewicz, Beata S; Saris, Jasper J; Charlet-Berguerand, Nicolas; Zara, Federico; Striano, Pasquale; Piton, Amélie
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children | 1-gen-2023 | Scorrano, G.; D'Onofrio, G.; Accogli, A.; Severino, M.; Buchert, R.; Kotzaeridou, U.; Iapadre, G.; Farello, G.; Iacomino, M.; Dono, F.; Di Francesco, L.; Fiorile, M. F.; La Bella, S.; Corsello, A.; Cali, E.; Di Rosa, G.; Gitto, E.; Verrotti, A.; Fortuna, S.; Soler, M. A.; Chiarelli, F.; Oehl-Jaschkowitz, B.; Haack, T. B.; Zara, F.; Striano, P.; Salpietro, V. | |
| A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome | 1-gen-2022 | Riva, Antonella; Nobile, Giulia; Giacomini, Thea; Ognibene, Marzia; Scala, Marcello; Balagura, Ganna; Madia, Francesca; Accogli, Andrea; Romano, Ferruccio; Tortora, Domenico; Severino, Mariasavina; Scudieri, Paolo; Baldassari, Simona; Musante, Ilaria; Uva, Paolo; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Capra, Valeria; Nobili, Lino; Striano, Pasquale; Mancardi, Maria Margherita; Zara, Federico; Iacomino, Michele | |
| Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders | 1-gen-2024 | Iacomino, Michele; Houerbi, Nadia; Fortuna, Sara; Howe, Jennifer; Li, Shan; Scorrano, Giovanna; Riva, Antonella; Cheng, Kai-Wen; Steiman, Mandy; Peltekova, Iskra; Yusuf, Afiqah; Baldassari, Simona; Tamburro, Serena; Scudieri, Paolo; Musante, Ilaria; Di Ludovico, Armando; Guerrisi, Sara; Balagura, Ganna; Corsello, Antonio; Efthymiou, Stephanie; Murphy, David; Uva, Paolo; Verrotti, Alberto; Fiorillo, Chiara; Delvecchio, Maurizio; Accogli, Andrea; Elsabbagh, Mayada; Houlden, Henry; Scherer, Stephen W; Striano, Pasquale; Zara, Federico; Chou, Tsui-Fen; Salpietro, Vincenzo | |
| Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies | 1-gen-2017 | Santolini, Ines; Celli, Roberta; Cannella, Milena; Imbriglio, Tiziana; Guiducci, Michela; Parisi, Pasquale; Schubert, Julian; Iacomino, Michele; Zara, Federico; Lerche, Holger; Moyanova, Slavianka; Ngomba, Richard Teke; van Luijtelaar, Gilles; Battaglia, Giuseppe; Bruno, Valeria; Striano, Pasquale; Nicoletti, Ferdinando; Palotie, Aarno; Folkhälsan, Anna-Elina Lehesjoki; Ruppert, Ann-Kathrin; Siren, Auli; Koeleman, Bobby; Lal, Dennis; Becker, Felicitas; Caglayan, Hande; Hjalgrim, Helle; Muhle, Hiltrud; Thiele, Holger; Helbig, Ingo; Altmuller, Janine; Jabbari, Kamel; Everett, Kate; May, Patrick; Nurnberg, Peter; Møller, Rikke; Nabbout, Rima; Krause, Roland; Balling, Rudi; Baulac, Stephanie; Sander, Thomas; Kunz, Wolfram; Weber, Yvonne; Bianchi, Amedeo; La Neve, Angela; Coppola, Antonietta; Striano, Salvatore; Capovilla, Giuseppe; Ferlazzo, Edoardo; Bagnasco, Irene; Ferretti, Alessandro; Di Bonaventura, Carlo; Vari, Maria Stella; Pinto, Francesca; Bisulli, Francesca; Tinuper, Paolo; Minetti, Carlo; Belcastro, Vincenzo; Giordano, Lucio; Gambardella, Antonio | |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders | 1-gen-2019 | Salpietro, V; Dixon, Cl; Guo, H; Bello, Od; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S; Torti, E; Hacke, M; Rankin, J; Tariq, H; Colin, E; Procaccio, V; Striano, P; Mankad, K; Lieb, A; Chen, S; Pisani, L; Bettencourt, C; Männikkö, R; Manole, A; Brusco, A; Grosso, E; Ferrero, Gb; Armstrong-Moron, J; Gueden, S; Bar-Yosef, O; Tzadok, M; Monaghan, Kg; Santiago-Sim, T; Person, Re; Cho, Mt; Willaert, R; Yoo, Y; Chae, Jh; Quan, Y; Wu, H; Wang, T; Bernier, Ra; Xia, K; Blesson, A; Jain, M; Motazacker, Mm; Jaeger, B; Schneider, Al; Boysen, K; Muir, Am; Myers, Ct; Gavrilova, Rh; Gunderson, L; Schultz-Rogers, L; Klee, Ew; Dyment, D; Osmond, M; Parellada, M; Llorente, C; Gonzalez-Peñas, J; Carracedo, A; Van Haeringen, A; Ruivenkamp, C; Nava, C; Heron, D; Nardello, R; Iacomino, M; Minetti, C; Skabar, A; Fabretto, A; SYNAPS Study, Group; Raspall-Chaure, M; Chez, M; Tsai, A; Fassi, E; Shinawi, M; Constantino, Jn; De Zorzi, R; Fortuna, S; Kok, F; Keren, B; Bonneau, D; Choi, M; Benzeev, B; Zara, F; Mefford, Hc; Scheffer, Ie; Clayton-Smith, J; Macaya, A; Rothman, Je; Eichler, Ee; Kullmann, Dm; Houlden, H; Hanna, Mg; Bugiardini, E; Hostettler, I; O'Callaghan, B; Khan, A; Cortese, A; O'Connor, E; Yau, Wy; Bourinaris, T; Kaiyrzhanov, R; Chelban, V; Madej, M; Diana, Mc; Vari, Ms; Pedemonte, M; Bruno, C; Balagura, G; Scala, M; Fiorillo, C; Nobili, L; Malintan, Nt; Zanetti, Mn; Krishnakumar, Ss; Lignani, G; Jepson, Jec; Broda, P; Baldassari, S; Rossi, P; Fruscione, F; Madia, F; Traverso, M; De-Marco, P; Pérez-Dueñas, B; Munell, F; Kriouile, Y; El-Khorassani, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van-Maldergem, L; Nachbauer, W; Boesch, S; Gagliano, A; Amadori, E; Goraya, Js; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Zuccotti, Gv; Ferrari, Md; Van Den Maagdenberg, Amj; Verrotti, A; Marseglia, Gl; Savasta, S; Soler, Ma; Scuderi, C; Borgione, E; Chimenz, R; Gitto, E; Dipasquale, V; Sallemi, A; Fusco, M; Cuppari, C; Cutrupi, Mc; Ruggieri, M; Cama, A; Capra, V; Mencacci, Ne; Boles, R; Gupta, N; Kabra, M; Papacostas, S; Zamba-Papanicolaou, E; Dardiotis, E; Maqbool, S; Rana, N; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Coviello, Da; Dauvilliers, Ya; Alkhawaja, I; Alkhawaja, M; Al-Mutairi, F; Stojkovic, T; Ferrucci, V; Zollo, M; Alkuraya, Fs; Kinali, M; Sherifa, H; Benrhouma, H; Turki, Iby; Tazir, M; Obeid, M; Bakhtadze, S; Saadi, Nw; Zaki, Ms; Triki, Cc; Benfenati, F; Gustincich, S; Kara, M; Belcastro, V; Specchio, N; Capovilla, G; Karimiani, Eg; Salih, Am; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Oguntunde, O; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Senkevich, K; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Haridy, N; Ramenghi, La; Xiromerisiou, G; David, E; Aguennouz, M; Fidani, L; Spanaki, C; Tucci, A. | |
| An interconnected data infrastructure to support large-scale rare disease research | 1-gen-2024 | Johansson, Lennart; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; De Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan Farid, Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; Van De Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephan; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; Van Der Velde, K Joeri; Veal, Colin; Van Der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Serg; Swertz Morris, A; Brookes, Anthony; Riess, Olaf; Haack, Tobias; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich Julia, M; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Kellner, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 'T Hoen, Peter; Vissers Lisenka, Elm; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; De Voer Richarda, M; Kamsteeg, Erik-Jan; Van De Warrenburg, Bart; Van Os, Nienke; Te Paske, Iris; Janssen, Erik; De Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes Anthony, J; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan Farid, Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo Chiara, Marini; Manera Jordi, Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut Ivo, Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo', Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou Rabah, Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková Radka, Pourová; Franková, Vera; Havlovicová, Markéta; Lišková, Petra; Doležalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali', Elisa; Magrinelli, Francesca; Sisodiya Sanjay, M; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; De Vries, Geert; De Winter, Jonathan; Beijer, Danique; De Jonghe, Peter; Van De Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer Anna, Katharina; Peters, Sophia; Oliveira, Carla; Garcia-Pelaez, Jose; Barbosa-Matos, Rita; José Celina, São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz Morris, A; Johansson, Lennart; Van Der Velde Joeri, K; Van Der Vries, Gerben; Neerincx Pieter, B; Ruvolo, David; Abbott Kristin, M; Frederikse Wilhemina, S Kerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; Van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; De Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De La Paz Manuel, Posada; Sánchez Eva, Bermejo; Martín Estrella, López; Delgado Beatriz, Martínez; De La Rosa, F Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio Francesca, Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar Maria, Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava Clara, Franco; Masó Laura, Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio Andrés, Nascimento; De Benito Daniel, Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery Patrick, F; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Başak Ayşe, Nazlı; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, ; Gijs, W E; Bijlsma, ; Emilia, K; Hoffer, ; Mariette, J V; Ruivenkamp, ; Claudia, A L; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabell; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick | |
| Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy | 1-gen-2021 | Marchese, Francesca; Faedo, Elena; Vari, Maria Stella; Bergonzini, Patrizia; Iacomino, Michele; Guerra, Azzurra; Franceschetti, Laura; Baroni, Alessandra; Scudieri, Paolo; Minetti, Carlo; Striano, Pasquale | |
| Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia | 1-gen-2021 | Wiessner, M.; Maroofian, R.; Ni, M. -Y.; Pedroni, A.; Muller, J. S.; Stucka, R.; Beetz, C.; Efthymiou, S.; Santorelli, F. M.; Alfares, A. A.; Zhu, C.; Uhrova Meszarosova, A.; Alehabib, E.; Bakhtiari, S.; Janecke, A. R.; Otero, M. G.; Chen, J. Y. H.; Peterson, J. T.; Strom, T. M.; De Jonghe, P.; Deconinck, T.; De Ridder, W.; De Winter, J.; Pasquariello, R.; Ricca, I.; Alfadhel, M.; Van De Warrenburg, B. P.; Portier, R.; Bergmann, C.; Ghasemi Firouzabadi, S.; Jin, S. C.; Bilguvar, K.; Hamed, S.; Abdelhameed, M.; Haridy, N. A.; Maqbool, S.; Rahman, F.; Anwar, N.; Carmichael, J.; Pagnamenta, A.; Wood, N. W.; Tran Mau-Them, F.; Haack, T.; Di Rocco, M.; Ceccherini, I.; Iacomino, M.; Zara, F.; Salpietro, V.; Scala, M.; Rusmini, M.; Xu, Y.; Wang, Y.; Suzuki, Y.; Koh, K.; Nan, H.; Ishiura, H.; Tsuji, S.; Lambert, L.; Schmitt, E.; Lacaze, E.; Kupper, H.; Dredge, D.; Skraban, C.; Goldstein, A.; Willis, M. J. H.; Grand, K.; Graham, J. M.; Lewis, R. A.; Millan, F.; Duman, O.; Dundar, N.; Uyanik, G.; Schols, L.; Nurnberg, P.; Nurnberg, G.; Catala Bordes, A.; Seeman, P.; Kuchar, M.; Darvish, H.; Rebelo, A.; Boucanova, F.; Medard, J. -J.; Chrast, R.; Auer-Grumbach, M.; Alkuraya, F. S.; Shamseldin, H.; Al Tala, S.; Rezazadeh Varaghchi, J.; Najafi, M.; Deschner, S.; Glaser, D.; Huttel, W.; Kruer, M. C.; Kamsteeg, E. -J.; Takiyama, Y.; Zuchner, S.; Baets, J.; Synofzik, M.; Schule, R.; Horvath, R.; Houlden, H.; Bartesaghi, L.; Lee, H. -J.; Ampatzis, K.; Pierson, T. M.; Senderek, J. | |
| Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome | 1-gen-2023 | Scala, Marcello; De Grandis, Elisa; Nobile, Giulia; Iacomino, Michele; Madia, Francesca; Capra, Valeria; Nobili, Lino; Zara, Federico; Striano, Pasquale | |
| Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders | 1-gen-2020 | Baldassari, S.; Musante, I.; Iacomino, M.; Zara, F.; SALPIETRO DAMIANO, Vincenzo; Scudieri, P. | |
| BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients | 1-gen-2023 | Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette | |
| Chiari malformation type I: what information from the genetics? | 1-gen-2019 | Capra, V.; Iacomino, M.; Accogli, A.; Pavanello, M.; Zara, F.; Cama, A.; De Marco, P. | |
| Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues | 1-gen-2022 | Romano, Ferruccio; Madia, Francesca; De Marco, Patrizia; Ognibene, Marzia; Guerrisi, Sara; Scala, Marcello; Iacomino, Michele; Baldassari, Simona; Vercellino, Nadia; Manunza, Francesca; Tallone, Ramona; Pavanello, Marco; Piatelli, Gianluca; Garaventa, Alberto; Zara, Federico; Capra, Valeria | |
| Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy | 1-gen-2021 | Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo Damiano; Novelli, Giuseppe; De Luca, Chiara; von Stülpnagel, Celina; Kluger, Felicitas; Kluger, Gerhard Josef; Wohlrab, Gabriele Christine; Ramantani, Georgia; Lewis-Smith, David; Thomas, Rhys H; Lai, Ming; Verrotti, Alberto; Striano, Salvatore; Depienne, Christel; Minetti, Carlo; Benfenati, Fabio; Brancati, Francesco; Zara, Federico; Striano, Pasquale | |
| Clinical and molecular consequences of exon 78 deletion in DMD gene | 1-gen-2018 | Traverso, Monica; Assereto, Stefania; Baratto, Serena; Iacomino, Michele; Pedemonte, Marina; Diana, Maria Cristina; Ferretti, Marta; Broda, Paolo; Minetti, Carlo; Gazzerro, Elisabetta; Madia, Francesca; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara | |
| Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients | 1-gen-2020 | Balagura, G.; Riva, A.; Marchese, F.; Iacomino, M.; Madia, F.; Giacomini, T.; Mancardi, M. M.; Amadori, E.; Vari, M. S.; Salpietro Damiano, V.; Russo, A.; Messana, T.; Vignoli, A.; Chiesa, V.; Giordano, L.; Accorsi, P.; Caffi, L.; Orsini, A.; Bonuccelli, A.; Santucci, M.; Vecchi, M.; Vanadia, F.; Milito, G.; Fusco, C.; Cricchiutti, G.; Carpentieri, M.; Margari, L.; Spalice, A.; Beccaria, F.; Benfenati, F.; Zara, F.; Striano, P. | |
| Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | 1-gen-2024 | Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; De Boer, Elke; Schuermans, Nika; Van De Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; De Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; Null, Null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 'T Hoen, Peter A. C.; Steyaert, Wouter; De Voer, Richarda; Kamsteeg, Erik-Jan; Van De Warrenburg, Bart; Van Os, Nienke; Paske, Iris Te; Janssen, Erik; De Boer, Elke; Steehouwer, Marloes; Neveling, Kornelia; Van Der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; De Vries, Geert; De Winter, Jonathan; De Jonghe, Peter; Van De Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Van Der Velde, Joeri K.; Van Der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; Van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; De Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García De La Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia De Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; De Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De La Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; Van Der Veken, Lars; Van Heurck, Roxane; Van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven | |
| DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia | 1-gen-2024 | Traverso, Monica; Baratto, Serena; Iacomino, Michele; Di Duca, Marco; Panicucci, Chiara; Casalini, Sara; Grandis, Marina; Falace, Antonio; Torella, Annalaura; Picillo, Esther; Onore, Maria Elena; Politano, Luisa; Nigro, Vincenzo; Innes, A. Micheil; Barresi, Rita; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara; Scala, Marcello | |
| De novo GRIN2A variants associated with epilepsy and autism and literature review | 1-gen-2022 | Mangano, Giuseppe Donato; Riva, Antonella; Fontana, Antonina; Salpietro, Vincenzo; Mangano, Giuseppa Renata; Nobile, Giulia; Orsini, Alessandro; Iacomino, Michele; Battini, Roberta; Astrea, Guja; Striano, Pasquale; Nardello, Rosaria | |
| De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes | 1-gen-2022 | Scala, Marcello; Drouot, Nathalie; Maclennan, Suzanna C; Wessels, Marja W; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margherita; Balagura, Ganna; Galloni, Giovanni Battista; Verrotti, Alberto; Umair, Muhammad; Khan, Amjad; Liebelt, Jan; Schmidts, Miriam; Langer, Thorsten; Brusco, Alfredo; Lipska-Ziętkiewicz, Beata S; Saris, Jasper J; Charlet-Berguerand, Nicolas; Zara, Federico; Striano, Pasquale; Piton, Amélie |