| Mutations of the TWIST gene in the Saethre-Chotzen syndrome V El Ghouzzi, M Le Merrer, F Perrin-Schmitt, E Lajeunie, P Benit, D Renier, ... Nature genetics 15 (1), 42, 1997 | 770 | 1997 |
| Missense FGFR3 Mutations Create Cysteine Residues in Thanatophoric Dwarfism Type I (TD1) F Rousseau, V El Ghouzzi, AL Delezoide, L Legeai-Mallet, M Le Merrer, ... Human molecular genetics 5 (4), 509-512, 1996 | 208 | 1996 |
| Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions JJ Briere, J Favier, P Benit, VE Ghouzzi, A Lorenzato, D Rabier, ... Human molecular genetics 14 (21), 3263-3269, 2005 | 195 | 2005 |
| Stem cell therapy for neonatal brain injury: perspectives and challenges L Titomanlio, A Kavelaars, J Dalous, S Mani, V El Ghouzzi, C Heijnen, ... Annals of neurology 70 (5), 698-712, 2011 | 172 | 2011 |
| Clinical variability in patients with Apert's syndrome E Lajeunie, R Cameron, V El Ghouzzi, N de Parseval, P Journeau, ... Journal of neurosurgery 90 (3), 443-447, 1999 | 162 | 1999 |
| Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome E Lajeunie, S Heuertz, V El Ghouzzi, J Martinovic, D Renier, M Le Merrer, ... European journal of human genetics 14 (3), 289-298, 2006 | 147 | 2006 |
| Craniosynostosis and fetal exposure to sodium valproate E Lajeunie, U Barcik, JA Thorne, V El Ghouzzi, M Bourgeois, D Renier Journal of neurosurgery 95 (5), 778-782, 2001 | 138 | 2001 |
| A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24 XJ de Mollerat, F Gurrieri, CT Morgan, E Sangiorgi, DB Everman, ... Human molecular genetics 12 (16), 1959-1971, 2003 | 131 | 2003 |
| ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly V El Ghouzzi, FT Bianchi, I Molineris, BC Mounce, GE Berto, M Rak, ... Cell death & disease 7 (10), e2440, 2016 | 126 | 2016 |
| Saethre–Chotzen mutations cause TWIST protein degradation or impaired nuclear location V El Ghouzzi, L Legeai-Mallet, S Aresta, C Benoist, A Munnich, ... Human molecular genetics 9 (5), 813-819, 2000 | 124 | 2000 |
| Succinate dehydrogenase deficiency in human JJ Brière, J Favier, VE Ghouzzi, F Djouadi, P Benit, AP Gimenez, P Rustin Cellular and Molecular Life Sciences CMLS 62, 2317-2324, 2005 | 121 | 2005 |
| Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome V El Ghouzzi, E Lajeunie, M Le Merrer, V Cormier-Daire, D Renier, ... European Journal of Human Genetics 7 (1), 27-33, 1999 | 94 | 1999 |
| Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse) L de Pontual, V Népote, T Attie-Bitach, H Al Halabiah, H Trang, ... Human molecular genetics 12 (23), 3173-3180, 2003 | 93 | 2003 |
| Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation E Lajeunie, V El Ghouzzi, M Le Merrer, A Munnich, J Bonaventure, ... Journal of medical genetics 36 (1), 9-13, 1999 | 93 | 1999 |
| Twist haploinsufficiency in Saethre–Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFα expression and caspase-2 activation M Yousfi, F Lasmoles, V El Ghouzzi, PJ Marie Human molecular genetics 11 (4), 359-369, 2002 | 81 | 2002 |
| Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve–Melchior–Clausen syndrome V El Ghouzzi, N Dagoneau, E Kinning, C Thauvin-Robinet, W Chemaitilly, ... Human molecular genetics 12 (3), 357-364, 2003 | 80 | 2003 |
| Mutations in the basic domain and the loop–helix II junction of TWIST abolish DNA binding in Saethre–Chotzen syndrome V El Ghouzzi, L Legeai-Mallet, C Benoist-Lasselin, E Lajeunie, D Renier, ... FEBS letters 492 (1-2), 112-118, 2001 | 78 | 2001 |
| ARCN1 mutations cause a recognizable craniofacial syndrome due to COPI-mediated transport defects K Izumi, M Brett, E Nishi, S Drunat, ES Tan, K Fujiki, S Lebon, B Cham, ... The American Journal of Human Genetics 99 (2), 451-459, 2016 | 76 | 2016 |
| Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome D Renier, V El Ghouzzi, J Bonaventure, M Le Merrer, E Lajeunie Journal of neurosurgery 92 (4), 631-636, 2000 | 75 | 2000 |
| Mutations in citron kinase cause recessive microlissencephaly with multinucleated neurons BN Harding, A Moccia, S Drunat, O Soukarieh, H Tubeuf, LS Chitty, ... The American Journal of Human Genetics 99 (2), 511-520, 2016 | 71 | 2016 |
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