| Isolation by size of epithelial tumor cells: a new method for the immunomorphological and molecular characterization of circulating tumor cells G Vona, A Sabile, M Louha, V Sitruk, S Romana, K Schütze, F Capron, ... The American journal of pathology 156 (1), 57-63, 2000 | 1384 | 2000 |
| Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome J Amiel, B Laudier, T Attié-Bitach, H Trang, L de Pontual, B Gener, ... Nature genetics 33 (4), 459-461, 2003 | 946 | 2003 |
| Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3 DJ Epstein, M Vekemans, P Gros Cell 67 (4), 767-774, 1991 | 812 | 1991 |
| The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome M Delous, L Baala, R Salomon, C Laclef, J Vierkotten, K Tory, C Golzio, ... Nature genetics 39 (7), 875-881, 2007 | 573 | 2007 |
| Human neural tube defects: developmental biology, epidemiology, and genetics ER Detrait, TM George, HC Etchevers, JR Gilbert, M Vekemans, ... Neurotoxicology and teratology 27 (3), 515-524, 2005 | 500 | 2005 |
| Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ... Nature genetics 41 (3), 359-364, 2009 | 482 | 2009 |
| SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) V Belin, V Cusin, G Viot, D Girlich, A Toutain, A Moncla, M Vekemans, ... Nature genetics 19 (1), 67-69, 1998 | 430 | 1998 |
| Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders ML Jacquemont, D Sanlaville, R Redon, O Raoul, V Cormier-Daire, ... Journal of medical genetics 43 (11), 843-849, 2006 | 410 | 2006 |
| Germline deletion of the miR-17∼ 92 cluster causes skeletal and growth defects in humans L de Pontual, E Yao, P Callier, L Faivre, V Drouin, S Cariou, ... Nature genetics 43 (10), 1026-1030, 2011 | 367 | 2011 |
| Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain M Abitbol, C Menini, AL Delezoide, T Rhyner, M Vekemans, J Mallet Nature genetics 4 (2), 147-153, 1993 | 362 | 1993 |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ... Nature genetics 42 (7), 619-625, 2010 | 333 | 2010 |
| Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome L Baala, S Audollent, J Martinovic, C Ozilou, MC Babron, ... The American Journal of Human Genetics 81 (1), 170-179, 2007 | 327 | 2007 |
| Confined placental mosaicism. DK Kalousek, M Vekemans Journal of medical genetics 33 (7), 529-533, 1996 | 305 | 1996 |
| The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome L Baala, S Romano, R Khaddour, S Saunier, UM Smith, S Audollent, ... The American Journal of Human Genetics 80 (1), 186-194, 2007 | 277 | 2007 |
| PAX8, TITF1, and FOXE1 Gene Expression Patterns during Human Development: New Insights into Human Thyroid Development and Thyroid Dysgenesis … SS Trueba, J Augé, G Mattei, H Etchevers, J Martinovic, P Czernichow, ... The Journal of Clinical Endocrinology & Metabolism 90 (1), 455-462, 2005 | 274 | 2005 |
| Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development D Sanlaville, HC Etchevers, M Gonzales, J Martinovic, M Clément-Ziza, ... Journal of medical genetics 43 (3), 211-317, 2006 | 265 | 2006 |
| KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ... Nature genetics 43 (6), 601-606, 2011 | 256 | 2011 |
| Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation F Molinari, M Rio, V Meskenaite, F Encha-Razavi, J Augé, D Bacq, ... Science 298 (5599), 1779-1781, 2002 | 255 | 2002 |
| A tumor profile in Down syndrome D Satgé, D Sommelet, A Geneix, M Nishi, P Malet, M Vekemans American journal of medical genetics 78 (3), 207-216, 1998 | 235 | 1998 |
| Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain RL Touraine, T Attié-Bitach, E Manceau, E Korsch, P Sarda, V Pingault, ... The American Journal of Human Genetics 66 (5), 1496-1503, 2000 | 231 | 2000 |
