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 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
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.
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34
2019-01-01 Shaheen, R.; Mark, P.; Prevost, C. T.; Alkindi, A.; Alhag, A.; Estwani, F.; Al-Sheddi, T.; Alobeid, E.; Alenazi, M. M.; Ewida, N.; Ibrahim, N.; Hashem, M.; Abdulwahab, F.; Bryant, E. M.; Spinelli, E.; Millichap, J.; Barnett, S. S.; Kearney, H. M.; Accogli, A.; Scala, M.; Capra, V.; Nigro, V.; Fu, D.; Alkuraya, F. S.
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
| 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 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 | |
| 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. | |
| Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34 | 1-gen-2019 | Shaheen, R.; Mark, P.; Prevost, C. T.; Alkindi, A.; Alhag, A.; Estwani, F.; Al-Sheddi, T.; Alobeid, E.; Alenazi, M. M.; Ewida, N.; Ibrahim, N.; Hashem, M.; Abdulwahab, F.; Bryant, E. M.; Spinelli, E.; Millichap, J.; Barnett, S. S.; Kearney, H. M.; Accogli, A.; Scala, M.; Capra, V.; Nigro, V.; Fu, D.; Alkuraya, F. S. | |
| 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 |