| Mutations in VANGL1 associated with neural-tube defects Z Kibar, E Torban, JR McDearmid, A Reynolds, J Berghout, M Mathieu, ... New England Journal of Medicine 356 (14), 1432-1437, 2007 | 342 | 2007 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 181 | 2019 |
| Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population P De Marco, MG Calevo, A Moroni, L Arata, E Merello, RH Finnell, H Zhu, ... Journal of human genetics 47 (6), 319-324, 2002 | 178 | 2002 |
| Novel mutations in VANGL1 in neural tube defects Z Kibar, CM Bosoi, M Kooistra, S Salem, RH Finnell, P De Marco, ... Human mutation 30 (7), E706-E715, 2009 | 135 | 2009 |
| Contribution of VANGL2 mutations to isolated neural tube defects Z Kibar, S Salem, CM Bosoi, E Pauwels, P De Marco, E Merello, ... Clinical genetics 80 (1), 76-82, 2011 | 132 | 2011 |
| Reduced folate carrier polymorphism (80A→ G) and neural tube defects P De Marco, MG Calevo, A Moroni, E Merello, A Raso, RH Finnell, H Zhu, ... European journal of human genetics 11 (3), 245-252, 2003 | 121 | 2003 |
| Video game induced seizures. CD Ferrie, P De Marco, RA Grünewald, S Giannakodimos, ... Journal of neurology, neurosurgery, and psychiatry 57 (8), 925, 1994 | 120 | 1994 |
| Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis R Allache, P De Marco, E Merello, V Capra, Z Kibar Birth Defects Research Part A: Clinical and Molecular Teratology 94 (3), 176-181, 2012 | 106 | 2012 |
| Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G> A polymorphism for neural tube defect risk P De Marco, E Merello, MG Calevo, S Mascelli, A Raso, A Cama, V Capra Journal of human genetics 51 (2), 98-103, 2006 | 105 | 2006 |
| Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity M Malacarne, E Gennaro, F Madia, S Pozzi, D Vacca, B Barone, ... The American Journal of Human Genetics 68 (6), 1521-1526, 2001 | 105 | 2001 |
| FZD6 is a novel gene for human neural tube defects P De Marco, E Merello, A Rossi, G Piatelli, A Cama, Z Kibar, V Capra Human mutation 33 (2), 384-390, 2012 | 103 | 2012 |
| Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 102 | 2018 |
| Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans JH Seo, Y Zilber, S Babayeva, JJ Liu, P Kyriakopoulos, P De Marco, ... Human molecular genetics 20 (22), 4324-4333, 2011 | 100 | 2011 |
| Bilateral occipital calcification, epilepsy and coeliac disease: clinical and neuroimaging features of a new syndrome. A Magaudda, B Dalla Bernardina, P De Marco, Z Sfaello, M Longo, ... Journal of neurology, neurosurgery, and psychiatry 56 (8), 885, 1993 | 98 | 1993 |
| Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects CM Bosoi, V Capra, R Allache, VQH Trinh, P De Marco, E Merello, ... Human mutation 32 (12), 1371-1375, 2011 | 92 | 2011 |
| Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case–control study P De Marco, E Merello, MG Calevo, S Mascelli, D Pastorino, L Crocetti, ... Child's Nervous System 27, 1073-1081, 2011 | 85 | 2011 |
| Update on the role of the non-canonical Wnt/planar cell polarity pathway in neural tube defects M Wang, P de Marco, V Capra, Z Kibar Cells 8 (10), 1198, 2019 | 81 | 2019 |
| Polymorphisms in genes involved in folate metabolism as risk factors for NTDs P De Marco, MG Calevo, A Moroni, L Arata, E Merello, A Cama, ... European Journal of Pediatric Surgery 11 (S1), S14-S17, 2001 | 81 | 2001 |
| Loss-of-function de novo mutations play an important role in severe human neural tube defects P Lemay, MC Guyot, É Tremblay, A Dionne-Laporte, D Spiegelman, ... Journal of medical genetics, 2015 | 74 | 2015 |
| Folate pathway gene alterations in patients with neural tube defects P De Marco, A Moroni, E Merello, R De Franchis, L Andreussi, RH Finnell, ... American journal of medical genetics 95 (3), 216-223, 2000 | 72 | 2000 |
