SCALA, MARCELLO
SCALA, MARCELLO
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22
2019-01-01 Tassano, Hasa; Ronchetto, Patrizia; Calcagno, Annalisa; Fiorio, Patrizia; Gimelli, Giorgio; Capra, Valeria; Scala, Marcello
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications
2025-01-01 Scala, Marcello; Leong, Nancy C. P.; Uyen Le, Thanh Nha; Zhang, Yu; Wu, Yichang; Severino, Mariasavina; Madia, Francesca; Shams Nosrati, Mohammad Sadegh; Dostmohammadi, Alireza; Capra, Valeria; Paladini, Dario; Buffelli, Francesca; Fulcheri, Ezio; Cappato, Serena; Menta, Ludovica; Bocciardi, Renata; Zara, Federico; Nguyen, Long N.
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion
2019-01-01 Scala, M.; Accogli, A.; De Grandis, E.; Allegri, A.; Bagowski, C.; Shoukier, M.; Maghnie, M.; Capra, V.
A novel pathogenic MYH3 mutation in a child with SheldonâHall syndrome and vertebral fusions
2018-01-01 Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P.; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria
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
A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome
2021-01-01 Ghosh, Shereen G.; Scala, Marcello; Beetz, Christian; Helman, Guy; Stanley, Valentina; Yang, Xiaoxu; Breuss, Martin W.; Mazaheri, Neda; Selim, Laila; Hadipour, Fatemeh; Pais, Lynn; Stutterd, Chloe A.; Karageorgou, Vasiliki; Begtrup, Amber; Crunk, Amy; Juusola, Jane; Willaert, Rebecca; Flore, Leigh A.; Kennelly, Kelly; Spencer, Christopher; Brown, Martha; Trapane, Pamela; Hurst, Anna C. E.; Rutledge, S. Lane; Goodloe, Dana H.; Mcdonald, Marie T.; Shashi, Vandana; Schoch, Kelly; Tomoum, Hoda; Zaitoun, Raghda; Hadipour, Zahra; Galehdari, Hamid; Pagnamenta, Alistair T.; Mojarrad, Majid; Sedaghat, Alireza; Dias, Patricia; Quintas, Sofia; Eslahi, Atiyeh; Shariati, Gholamreza; Bauer, Peter; Simons, Cas; Houlden, Henry; Issa, Mahmoud Y.; Zaki, Maha S.; Maroofian, Reza; Gleeson, Joseph G.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023-01-01 Denommé-Pichon, ; Anne-Sophie;, Matalonga; Leslie; de, Boer; Elke;, Jackson; Adam;, Benetti; Elisa;, Banka; Siddharth;, Bruel; Ange-Line;, Ciolfi; Andrea;, Clayton-Smith; Jill;, Dallapiccola; Bruno;, Duffourd; Yannis;, Ellwanger; Kornelia;, Fallerini; Chiara;, Gilissen; Christian;, Graessner; Holm;, Haack; Tobias B;, Havlovicova; Marketa;, Hoischen; Alexander;, Jean-Marçais; Nolwenn;, Kleefstra; Tjitske;, López-Martín; Estrella;, Macek; Milan;, Mencarelli; Maria Antonietta;, Moutton; Sébastien;, Pfundt; Rolph;, Pizzi; Simone;, Posada; Manuel;, Radio; Francesca Clementina;, Renieri; Alessandra;, Rooryck; Caroline;, Ryba; Lukas;, Safraou; Hana;, Schwarz; Martin;, Tartaglia; Marco;, Thauvin-Robinet; Christel;, Thevenon; Julien; Tran, Mau-Them; Frédéric;, Trimouille; Aurélien;, Votypka; Pavel; de, Vries; Bert, B A; Willemsen; Marjolein H;, Zurek; Birte;, Verloes; Alain;, Philippe; Christophe;, Vitobello; Antonio;, Vissers; Lisenka E, L M; Faivre; Laurence; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia;, Marcello; Scala, Marcello
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy
2019-01-01 Scala, M.; Amadori, E.; Fusco, L.; Marchese, F.; Capra, V.; Minetti, C.; Vari, M. S.; Striano, P.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
2022-01-01 Vitobello, Antonio; Mazel, Benoit; Lelianova, Vera G; Zangrandi, Alice; Petitto, Evelina; Suckling, Jason; Salpietro, Vincenzo; Meyer, Robert; Elbracht, Miriam; Kurth, Ingo; Eggermann, Thomas; Benlaouer, Ouafa; Lall, Gurprit; Tonevitsky, Alexander G; Scott, Daryl A; Chan, Katie M; Rosenfeld, Jill A; Nambot, Sophie; Safraou, Hana; Bruel, Ange-Line; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Guo, Hui; Petersen, Andrea K; Granger, Leslie; Crunk, Amy; Bayat, Allan; Striano, Pasquale; Zara, Federico; Scala, Marcello; Thomas, Quentin; Delahaye, Andrée; de Sainte Agathe, Jean-Madeleine; Buratti, Julien; Kozlov, Serguei V; Faivre, Laurence; Thauvin-Robinet, Christel; Ushkaryov, Yuri
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy
2020-01-01 Scala, M.; Bianchi, A.; Bisulli, F.; Coppola, A.; Elia, M.; Trivisano, M.; Pruna, D.; Pippucci, T.; Canafoglia, L.; Lattanzi, S.; Franceschetti, S.; Nobile, C.; Gambardella, A.; Michelucci, R.; Zara, F.; Striano, P
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum
2019-01-01 Scala, M.; Morana, G.; Sementa, A. R.; Merla, G.; Piatelli, G.; Capra, V.; Pavanello, M.
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 early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14
2023-01-01 Severa, Gianmarco; Pennisi, Alessandra; Barnerias, Christine; Fiorillo, Chiara; Scala, Marcello; Taglietti, Valentina; Cojocaru, Andreea Iuliana; Jouni, Dima; Tosca, Lucie; Tachdjian, Gérard; Desguerre, Isabelle; Authier, François-Jérome; Carlier, Robert-Yves; Metay, Corinne; Verebi, Camille; Malfatti, Edoardo
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
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center
2025-01-01 Romano, Ferruccio; De Marco, Patrizia; Amico, Giulia; Mallamaci, Marisa; Pavanello, Marco; Piatelli, Gianluca; Scala, Marcello; Zara, Federico; Faravelli, Francesca; Severino, Mariasavina; Tortora, Domenico; Pasetti, Francesco; Castellan, Lucio; Buratti, Silvia; Capra, Valeria
Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases
2017-01-01 Scala, Marcello; Morana, Giovanni; Milanaccio, Claudia; Pavanello, Marco; Nozza, Paolo; Garre, Maria Luisa
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities
2024-01-01 Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G.; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogné, Benjamin; Salick, Max R.; Kaykas, Ajamete; Eggan, Kevin; Capra, Valeria; Bézieau, Stéphane; Davis, Erica E.; Wells, Michael F.
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
2020-01-01 Scala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Chiara Manzini, M; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza; Silver, David L
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
2023-01-01 Cali, E.; Suri, M.; Scala, M.; Ferla, M. P.; Alavi, S.; Faqeih, E. A.; Bijlsma, E. K.; Wigby, K. M.; Baralle, D.; Mehrjardi, M. Y. V.; Schwab, J.; Platzer, K.; Steindl, K.; Hashem, M.; Jones, M.; Niyazov, D. M.; Jacober, J.; Littlejohn, R. O.; Weis, D.; Zadeh, N.; Rodan, L.; Goldenberg, A.; Lecoquierre, F.; Dutra-Clarke, M.; Horvath, G.; Young, D.; Orenstein, N.; Bawazeer, S.; Vulto-van Silfhout, A. T.; Herenger, Y.; Dehghani, M.; Seyedhassani, S. M.; Bahreini, A.; Nasab, M. E.; Ercan-Sencicek, A. G.; Firoozfar, Z.; Movahedinia, M.; Efthymiou, S.; Striano, P.; Karimiani, E. G.; Salpietro, V.; Taylor, J. C.; Redman, M.; Stegmann, A. P. A.; Laner, A.; Abdel-Salam, G.; Li, M.; Bengala, M.; Müller, A. J.; Digilio, M. C.; Rauch, A.; Gunel, M.; Titheradge, H.; Schweitzer, D. N.; Kraus, A.; Valenzuela, I.; Mclean, S. D.; Phornphutkul, C.; Salih, M.; Begtrup, A.; Schnur, R. E.; Torti, E.; Haack, T. B.; Prada, C. E.; Alkuraya, F. S.; Houlden, H.; Maroofian, R.
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy
2021-01-01 Maroofian, R.; Sedmik, J.; Mazaheri, N.; Scala, M.; Zaki, M. S.; Keegan, L. P.; Azizimalamiri, R.; Issa, M.; Shariati, G.; Sedaghat, A.; Beetz, C.; Bauer, P.; Galehdari, H.; O'Connell, M. A.; Houlden, H.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22 | 1-gen-2019 | Tassano, Hasa; Ronchetto, Patrizia; Calcagno, Annalisa; Fiorio, Patrizia; Gimelli, Giorgio; Capra, Valeria; Scala, Marcello | |
| A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications | 1-gen-2025 | Scala, Marcello; Leong, Nancy C. P.; Uyen Le, Thanh Nha; Zhang, Yu; Wu, Yichang; Severino, Mariasavina; Madia, Francesca; Shams Nosrati, Mohammad Sadegh; Dostmohammadi, Alireza; Capra, Valeria; Paladini, Dario; Buffelli, Francesca; Fulcheri, Ezio; Cappato, Serena; Menta, Ludovica; Bocciardi, Renata; Zara, Federico; Nguyen, Long N. | |
| A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusion | 1-gen-2019 | Scala, M.; Accogli, A.; De Grandis, E.; Allegri, A.; Bagowski, C.; Shoukier, M.; Maghnie, M.; Capra, V. | |
| A novel pathogenic MYH3 mutation in a child with SheldonâHall syndrome and vertebral fusions | 1-gen-2018 | Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P.; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria | |
| 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 | |
| A relatively common homozygousTRAPPC4splicing variant is associated with an early-infantile neurodegenerative syndrome | 1-gen-2021 | Ghosh, Shereen G.; Scala, Marcello; Beetz, Christian; Helman, Guy; Stanley, Valentina; Yang, Xiaoxu; Breuss, Martin W.; Mazaheri, Neda; Selim, Laila; Hadipour, Fatemeh; Pais, Lynn; Stutterd, Chloe A.; Karageorgou, Vasiliki; Begtrup, Amber; Crunk, Amy; Juusola, Jane; Willaert, Rebecca; Flore, Leigh A.; Kennelly, Kelly; Spencer, Christopher; Brown, Martha; Trapane, Pamela; Hurst, Anna C. E.; Rutledge, S. Lane; Goodloe, Dana H.; Mcdonald, Marie T.; Shashi, Vandana; Schoch, Kelly; Tomoum, Hoda; Zaitoun, Raghda; Hadipour, Zahra; Galehdari, Hamid; Pagnamenta, Alistair T.; Mojarrad, Majid; Sedaghat, Alireza; Dias, Patricia; Quintas, Sofia; Eslahi, Atiyeh; Shariati, Gholamreza; Bauer, Peter; Simons, Cas; Houlden, Henry; Issa, Mahmoud Y.; Zaki, Maha S.; Maroofian, Reza; Gleeson, Joseph G. | |
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing | 1-gen-2023 | Denommé-Pichon, ; Anne-Sophie;, Matalonga; Leslie; de, Boer; Elke;, Jackson; Adam;, Benetti; Elisa;, Banka; Siddharth;, Bruel; Ange-Line;, Ciolfi; Andrea;, Clayton-Smith; Jill;, Dallapiccola; Bruno;, Duffourd; Yannis;, Ellwanger; Kornelia;, Fallerini; Chiara;, Gilissen; Christian;, Graessner; Holm;, Haack; Tobias B;, Havlovicova; Marketa;, Hoischen; Alexander;, Jean-Marçais; Nolwenn;, Kleefstra; Tjitske;, López-Martín; Estrella;, Macek; Milan;, Mencarelli; Maria Antonietta;, Moutton; Sébastien;, Pfundt; Rolph;, Pizzi; Simone;, Posada; Manuel;, Radio; Francesca Clementina;, Renieri; Alessandra;, Rooryck; Caroline;, Ryba; Lukas;, Safraou; Hana;, Schwarz; Martin;, Tartaglia; Marco;, Thauvin-Robinet; Christel;, Thevenon; Julien; Tran, Mau-Them; Frédéric;, Trimouille; Aurélien;, Votypka; Pavel; de, Vries; Bert, B A; Willemsen; Marjolein H;, Zurek; Birte;, Verloes; Alain;, Philippe; Christophe;, Vitobello; Antonio;, Vissers; Lisenka E, L M; Faivre; Laurence; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia;, Marcello; Scala, Marcello | |
| Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy | 1-gen-2019 | Scala, M.; Amadori, E.; Fusco, L.; Marchese, F.; Capra, V.; Minetti, C.; Vari, M. S.; Striano, P. | |
| ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model | 1-gen-2022 | Vitobello, Antonio; Mazel, Benoit; Lelianova, Vera G; Zangrandi, Alice; Petitto, Evelina; Suckling, Jason; Salpietro, Vincenzo; Meyer, Robert; Elbracht, Miriam; Kurth, Ingo; Eggermann, Thomas; Benlaouer, Ouafa; Lall, Gurprit; Tonevitsky, Alexander G; Scott, Daryl A; Chan, Katie M; Rosenfeld, Jill A; Nambot, Sophie; Safraou, Hana; Bruel, Ange-Line; Denommé-Pichon, Anne-Sophie; Tran Mau-Them, Frédéric; Philippe, Christophe; Duffourd, Yannis; Guo, Hui; Petersen, Andrea K; Granger, Leslie; Crunk, Amy; Bayat, Allan; Striano, Pasquale; Zara, Federico; Scala, Marcello; Thomas, Quentin; Delahaye, Andrée; de Sainte Agathe, Jean-Madeleine; Buratti, Julien; Kozlov, Serguei V; Faivre, Laurence; Thauvin-Robinet, Christel; Ushkaryov, Yuri | |
| Advances in genetic testing and optimization of clinical management in children and adults with epilepsy | 1-gen-2020 | Scala, M.; Bianchi, A.; Bisulli, F.; Coppola, A.; Elia, M.; Trivisano, M.; Pruna, D.; Pippucci, T.; Canafoglia, L.; Lattanzi, S.; Franceschetti, S.; Nobile, C.; Gambardella, A.; Michelucci, R.; Zara, F.; Striano, P | |
| Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum | 1-gen-2019 | Scala, M.; Morana, G.; Sementa, A. R.; Merla, G.; Piatelli, G.; Capra, V.; Pavanello, M. | |
| 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 early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14 | 1-gen-2023 | Severa, Gianmarco; Pennisi, Alessandra; Barnerias, Christine; Fiorillo, Chiara; Scala, Marcello; Taglietti, Valentina; Cojocaru, Andreea Iuliana; Jouni, Dima; Tosca, Lucie; Tachdjian, Gérard; Desguerre, Isabelle; Authier, François-Jérome; Carlier, Robert-Yves; Metay, Corinne; Verebi, Camille; Malfatti, Edoardo | |
| 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 | |
| Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center | 1-gen-2025 | Romano, Ferruccio; De Marco, Patrizia; Amico, Giulia; Mallamaci, Marisa; Pavanello, Marco; Piatelli, Gianluca; Scala, Marcello; Zara, Federico; Faravelli, Francesca; Severino, Mariasavina; Tortora, Domenico; Pasetti, Francesco; Castellan, Lucio; Buratti, Silvia; Capra, Valeria | |
| Atypical choroid plexus papilloma: spontaneous resolution of diffuse leptomeningeal contrast enhancement after primary tumor removal in 2 pediatric cases | 1-gen-2017 | Scala, Marcello; Morana, Giovanni; Milanaccio, Claudia; Pavanello, Marco; Nozza, Paolo; Garre, Maria Luisa | |
| Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities | 1-gen-2024 | Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G.; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogné, Benjamin; Salick, Max R.; Kaykas, Ajamete; Eggan, Kevin; Capra, Valeria; Bézieau, Stéphane; Davis, Erica E.; Wells, Michael F. | |
| Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features | 1-gen-2020 | Scala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Chiara Manzini, M; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza; Silver, David L | |
| Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities | 1-gen-2023 | Cali, E.; Suri, M.; Scala, M.; Ferla, M. P.; Alavi, S.; Faqeih, E. A.; Bijlsma, E. K.; Wigby, K. M.; Baralle, D.; Mehrjardi, M. Y. V.; Schwab, J.; Platzer, K.; Steindl, K.; Hashem, M.; Jones, M.; Niyazov, D. M.; Jacober, J.; Littlejohn, R. O.; Weis, D.; Zadeh, N.; Rodan, L.; Goldenberg, A.; Lecoquierre, F.; Dutra-Clarke, M.; Horvath, G.; Young, D.; Orenstein, N.; Bawazeer, S.; Vulto-van Silfhout, A. T.; Herenger, Y.; Dehghani, M.; Seyedhassani, S. M.; Bahreini, A.; Nasab, M. E.; Ercan-Sencicek, A. G.; Firoozfar, Z.; Movahedinia, M.; Efthymiou, S.; Striano, P.; Karimiani, E. G.; Salpietro, V.; Taylor, J. C.; Redman, M.; Stegmann, A. P. A.; Laner, A.; Abdel-Salam, G.; Li, M.; Bengala, M.; Müller, A. J.; Digilio, M. C.; Rauch, A.; Gunel, M.; Titheradge, H.; Schweitzer, D. N.; Kraus, A.; Valenzuela, I.; Mclean, S. D.; Phornphutkul, C.; Salih, M.; Begtrup, A.; Schnur, R. E.; Torti, E.; Haack, T. B.; Prada, C. E.; Alkuraya, F. S.; Houlden, H.; Maroofian, R. | |
| Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy | 1-gen-2021 | Maroofian, R.; Sedmik, J.; Mazaheri, N.; Scala, M.; Zaki, M. S.; Keegan, L. P.; Azizimalamiri, R.; Issa, M.; Shariati, G.; Sedaghat, A.; Beetz, C.; Bauer, P.; Galehdari, H.; O'Connell, M. A.; Houlden, H. |