| Amelogenesis imperfecta PJM Crawford, M Aldred, A Bloch-Zupan Orphanet journal of rare diseases 2, 1-11, 2007 | 680 | 2007 |
| Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome V Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, MC Vincent, ... Human mutation 31 (2), 113-126, 2010 | 256 | 2010 |
| The Variable Expressivity and Incomplete Penetrance of the twist-Null Heterozygous Mouse Phenotype Resemble Those of Human Saethre-Chotzen Syndrome P Bourgeois, AL Bolcato-Bellemin, JM Danse, A Bloch-Zupan, K Yoshiba, ... Human molecular genetics 7 (6), 945-957, 1998 | 225 | 1998 |
| Systematic review of studies comparing the anti-caries efficacy of children’s toothpaste containing 600 ppm of fluoride or less with high fluoride toothpastes of 1,000 ppm or above AB Ammari, A Bloch-Zupan, PF Ashley Caries research 37 (2), 85-92, 2003 | 201 | 2003 |
| Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta DA Parry, AJ Mighell, W El-Sayed, RC Shore, IK Jalili, H Dollfus, ... The american journal of human genetics 84 (2), 266-273, 2009 | 197 | 2009 |
| A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement MK Prasad, V Geoffroy, S Vicaire, B Jost, M Dumas, S Le Gras, M Switala, ... Journal of medical genetics 53 (2), 98-110, 2016 | 146 | 2016 |
| Orodental phenotype and genotype findings in all subtypes of hypophosphatasia A Reibel, MC Manière, F Clauss, D Droz, Y Alembik, E Mornet, ... Orphanet Journal of Rare Diseases 4, 1-10, 2009 | 131 | 2009 |
| Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects A Bloch-Zupan, X Jamet, C Etard, V Laugel, J Muller, V Geoffroy, ... The American Journal of Human Genetics 89 (6), 773-781, 2011 | 122 | 2011 |
| Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations G Jaureguiberry, D la Dure-Molla, D Parry, M Quentric, N Himmerkus, ... Nephron Physiology 122 (1-2), 1-6, 2013 | 119 | 2013 |
| Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations M de la Dure-Molla, M Quentric, PM Yamaguti, AC Acevedo, AJ Mighell, ... Orphanet journal of rare diseases 9, 1-13, 2014 | 107 | 2014 |
