BetterScholar BetterScholar
11
Role
Title
Level Year L/R
🐜 Characterization of a murine gene expressed from the inactive X chromosome
13 auth. G. Borsani, R. Tonlorenzi, M. Simmler, L. Dandolo, D. Arnaud, V. Capra, M. Grompe, A. Pizzuti, D. Muzny, Charles Lawrence, ... Huntington F. Willard, P. Avner, A. Ballabio
9 1991
9
🐜
🐜 Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
7 auth. S. Brunelli, A. Faiella, V. Capra, V. Nigro, A. Simeone, A. Cama, ... E. Boncinelli
8 1996
8
🐜
🐜 Mutations in VANGL1 associated with neural-tube defects.
14 auth. Z. Kibar, E. Torban, J. McDearmid, Annie Reynolds, J. Berghout, M. Mathieu, I. Kirillova, P. de Marco, E. Merello, J. M. Hayes, ... J. Wallingford, P. Drapeau, V. Capra, P. Gros
8 2007
8
🐜
🐜 Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor
26 auth. F. Bourdeaut, D. Lequin, L. Brugières, S. Reynaud, C. Dufour, F. Doz, N. André, J. Stéphan, Y. Pérel, O. Oberlin, D. Orbach, C. Bergeron, X. Rialland, P. Fréneaux, D. Ranchère, ... D. Figarella-Branger, G. Audry, S. Puget, D. Evans, J. Piñas, V. Capra, V. Mosseri, I. Coupier, M. Gauthier‐Villars, G. Pierron, O. Delattre
7 2011
7
🐜
🐜 AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
238 auth. V. Salpietro, C. Dixon, Hui Guo, O. Bello, J. Vandrovcova, S. Efthymiou, R. Maroofian, G. Heimer, L. Burglen, S. Valence, E. Torti, Moritz Hacke, J. Rankin, Huma Tariq, E. Colin, ... V. Procaccio, P. Striano, K. Mankad, A. Lieb, Sharon Chen, Laura Pisani, C. Bettencourt, R. Männikkö, A. Manole, A. Brusco, E. Grosso, G. Ferrero, J. Armstrong-Moron, S. Gueden, O. Bar-Yosef, M. Tzadok, K. Monaghan, Teresa Santiago-Sim, R. Person, M. Cho, R. Willaert, Y. Yoo, J. Chae, Yingting Quan, Huidan Wu, Tianyun Wang, R. Bernier, K. Xia, Alyssa Blesson, Mahim Jain, M. Motazacker, B. Jaeger, Amy L. Schneider, Katja E. Boysen, Alison M. Muir, Candace T. Myers, R. Gavrilova, Lauren B. Gunderson, Laura E. Schultz-Rogers, E. Klee, D. Dyment, M. Osmond, M. Parellada, C. Llorente, J. González-Peñas, Á. Carracedo, A. van Haeringen, C. Ruivenkamp, C. Nava, D. Heron, R. Nardello, M. Iacomino, C. Minetti, A. Skabar, Antonella Fabretto, M. Hanna, E. Bugiardini, I. Hostettler, B. O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’connor, W. Y. Yau, Thomas Bourinaris, R. Kaiyrzhanov, V. Chelban, Monika J. Madej, M. Diana, M. Vari, M. Pedemonte, Claudio Bruno, G. Balagura, Marcello Scala, C. Fiorillo, L. Nobili, Nancy T. Malintan, M. N. Zanetti, Shyam S. Krishnakumar, G. Lignani, J. Jepson, P. Broda, Simona Baldassari, P. Rossi, Floriana Fruscione, F. Madia, M. Traverso, Patrizia De-Marco, B. Pérez-Dueñas, F. Munell, Y. Kriouile, Mohamed El-Khorassani, B. Karashova, D. Avdjieva, H. Kathom, R. Tincheva, Lionel Van-Maldergem, W. Nachbauer, S. Boesch, A. Gagliano, E. Amadori, J. Goraya, T. Sultan, S. Kirmani, S. Ibrahim, F. Jan, J. Mine, S. Banu, P. Veggiotti, G. Zuccotti, Michel D. Ferrari, A. M. van den Maagdenberg, A. Verrotti, G. Marseglia, S. Savasta, M. A. Soler, C. Scuderi, E. Borgione, R. Chimenz, E. Gitto, V. Dipasquale, A. Sallemi, M. Fusco, C. Cuppari, M. Cutrupi, M. Ruggieri, A. Cama, V. Capra, N. Mencacci, Richard S. Boles, Neerja Gupta, M. Kabra, S. Papacostas, E. Zamba-Papanicolaou, E. Dardiotis, S. Maqbool, N. Rana, Osama M Atawneh, Shen-Yang Lim, Farooq Shaikh, G. Koutsis, M. Breza, D. Coviello, Y. Dauvilliers, I. Alkhawaja, Mariam Alkhawaja, Fuad Al-Mutairi, T. Stojkovic, Veronica Ferrucci, M. Zollo, F. Alkuraya, M. Kinali, Hamed Sherifa, H. Benrhouma, I. Turki, M. Tazir, M. Obeid, S. Bakhtadze, N. Saadi, M. Zaki, C. Triki, F. Benfenati, S. Gustincich, Majdi Kara, V. Belcastro, N. Specchio, G. Capovilla, E. Karimiani, A. Salih, N. Okubadejo, O. Ojo, O. Oshinaike, O. Oguntunde, K. Wahab, A. Bello, S. Abubakar, Y. Obiabo, E. Nwazor, O. Ekenze, U. Williams, A. Iyagba, L. Taiwo, M. Komolafe, Konstantin Senkevich, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksudjon Isrofilov, Ulviyya Guliyeva, K. Salayev, Samson Khachatryan, S. Rossi, Gabriella Silvestri, Nourelhoda A. Haridy, L. Ramenghi, G. Xiromerisiou, E. David, M. Aguennouz, L. Fidani, C. Spanaki, A. Tucci, M. Raspall-Chaure, M. Chez, A. Tsai, E. Fassi, M. Shinawi, J. Constantino, Rita De Zorzi, Sara Fortuna, F. Kok, B. Keren, D. Bonneau, Murim Choi, B. Benzeev, F. Zara, H. Mefford, I. Scheffer, J. Clayton-Smith, A. Macaya, J. Rothman, E. Eichler, D. Kullmann, H. Houlden
7 2019
7
🐜
🐢 Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
10 auth. P. Marco, M. Calevo, A. Moroni, L. Arata, E. Merello, R. Finnell, ... Huiping Zhu, L. Andreussi, A. Cama, V. Capra
7 2002
7
🐢
🐜 VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.
28 auth. D. Szumska, Guido E Pieles, R. Essalmani, M. Bilski, D. Mesnard, K. Kaur, A. Franklyn, K. el Omari, J. Jefferis, J. Bentham, Jennifer M. Taylor, J. Schneider, S. Arnold, Paul Johnson, Z. Tymowska‐Lalanne, ... D. Stammers, K. Clarke, S. Neubauer, Andrew P Morris, Steve D. M. Brown, C. Shaw-Smith, A. Cama, V. Capra, J. Ragoussis, D. Constam, N. Seidah, A. Prat, S. Bhattacharya
6 2008
6
🐜
🐜 Novel mutations in VANGL1 in neural tube defects
10 auth. Z. Kibar, Ciprian M. Bosoi, Megan K Kooistra, Sandra Salem, R. Finnell, P. de Marco, ... E. Merello, A. Bassuk, V. Capra, P. Gros
6 2009
6
🐜
🐬 Toward understanding the genetic basis of neural tube defects
Z. Kibar, V. Capra, P. Gros
6 2007
6
🐬
🐜 Medulloblastoma Variants: Age-Dependent Occurrence and Relation to Gorlin Syndrome—A New Clinical Perspective
24 auth. M. Garrè, A. Cama, F. Bagnasco, G. Morana, F. Giangaspero, M. Brisigotti, C. Gambini, M. Forni, A. Rossi, R. Haupt, ... P. Nozza, S. Barra, G. Piatelli, G. Viglizzo, V. Capra, W. Bruno, L. Pastorino, M. Massimino, M. Tumolo, P. Fidani, S. Dallorso, R. Schumacher, C. Milanaccio, T. Pietsch
6 2009
6
🐜
🐢 Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation.
P. Tortori‐Donati, M. P. Fondelli, A. Rossi, C. Raybaud, A. Cama, V. Capra
6 1999
6
🐢