| Prevalences of polyarteritis nodosa, microscopic polyangiitis, Wegener's granulomatosis, and Churg‐Strauss syndrome in a French urban multiethnic population in 2000: a capture … A Mahr, L Guillevin, M Poissonnet, S Aymé Arthritis Care & Research 51 (1), 92-99, 2004 | 447 | 2004 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2016 | 405 | 2016 |
| Prevalence of 22q11 microdeletion. ST Du Montcel, H Mendizabai, S Ayme, A Levy, N Philip Journal of Medical Genetics 33 (8), 719, 1996 | 245 | 1996 |
| Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users A Rath, A Olry, F Dhombres, MM Brandt, B Urbero, S Ayme Human mutation 33 (5), 803-808, 2012 | 212 | 2012 |
| Tobacco and alcohol use during pregnancy and risk of oral clefts. Occupational Exposure and Congenital Malformation Working Group. C Lorente, S Cordier, J Goujard, S Aymé, F Bianchi, E Calzolari, ... American Journal of Public Health 90 (3), 415, 2000 | 191 | 2000 |
| Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective B Godard, J Schmidtke, JJ Cassiman, S Aymé European Journal of Human Genetics 11 (S2), S88, 2004 | 188 | 2004 |
| Empowerment of patients: lessons from the rare diseases community S Aymé, A Kole, S Groft The lancet 371 (9629), 2048-2051, 2008 | 187 | 2008 |
| Protocols to establish genotype-phenotype correlations in Down syndrome. CJ Epstein, JR Korenberg, G Anneren, SE Antonarakis, S Ayme, ... American journal of human genetics 49 (1), 207, 1991 | 176 | 1991 |
| Constitutional chromosomal breakage F Giraud, S Ayme, JF Mattei, MG Mattei Human genetics 34 (2), 125-136, 1976 | 163 | 1976 |
| The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues S Soini, D Ibarreta, V Anastasiadou, S Aymé, S Braga, M Cornel, ... European Journal of Human Genetics 14 (5), 588, 2006 | 162 | 2006 |
| X-autosome translocations: cytogenetic characteristics and their consequences MG Mattei, JF Mattei, S Ayme, F Giraud Human genetics 61 (4), 295-309, 1982 | 162 | 1982 |
| Congenital malformations and maternal occupational exposure to glycol ethers S Cordier, A Bergeret, J Goujard, MC Ha, S Aymé, F Bianchi, E Calzolari, ... Epidemiology, 355-363, 1997 | 154 | 1997 |
| Population genetic screening programmes: principles, techniques, practices, and policies B Godard, L Ten Kate, G Evers-Kiebooms, S Aymé European Journal of Human Genetics 11 (S2), S49, 2004 | 128 | 2004 |
| Maternal occupational risk factors for oral clefts C Lorente, S Cordier, A Bergeret, HEK De Walle, J Goujard, S Aymé, ... Scandinavian journal of work, environment & health 26 (2), 137-145, 2000 | 128 | 2000 |
| Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. N Philip, P Meinecke, A David, J Dean, S Ayme, R Clark, ... Clinical dysmorphology 1 (2), 63-77, 1992 | 114 | 1992 |
| Maternal-age effect in aneuploidy: does altered embryonic selection play a role? S Aymé, A Lippman-Hand American journal of human genetics 34 (4), 558, 1982 | 110 | 1982 |
| Networking for rare diseases: a necessity for Europe S Aymé, J Schmidtke Bundesgesundheitsblatt-Gesundheitsforschung-Gesundheitsschutz 50 (12), 1477-1483, 2007 | 107 | 2007 |
| Maternal occupational exposure and congenital malformations S Cordier, MC Ha, S Ayme, J Goujard Scandinavian journal of work, environment & health, 11-17, 1992 | 99 | 1992 |
| Provision of genetic services in Europe: current practices and issues B Godard, H Kääriäinen, U Kristoffersson, L Tranebjaerg, D Coviello, ... European Journal of Human Genetics 11 (S2), S13, 2004 | 89 | 2004 |
| Genetic information and testing in insurance and employment: technical, social and ethical issues B Godard, S Raeburn, M Pembrey, M Bobrow, P Farndon, S Aymé European Journal of Human Genetics 11 (S2), S123, 2004 | 84 | 2004 |
