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, 2017 | 807 | 2017 |
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 | 659 | 2004 |
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 | 384 | 2012 |
Empowerment of patients: lessons from the rare diseases community S Aymé, A Kole, S Groft The lancet 371 (9629), 2048-2051, 2008 | 306 | 2008 |
Prevalence of 22q11 microdeletion. ST Du Montcel, H Mendizabai, S Ayme, A Levy, N Philip Journal of Medical Genetics 33 (8), 719, 1996 | 297 | 1996 |
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 (2), S88-S122, 2003 | 257 | 2003 |
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 Ayme, F Bianchi, E Calzolari, ... American Journal of Public Health 90 (3), 415, 2000 | 240 | 2000 |
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), 588-645, 2006 | 216 | 2006 |
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 | 213 | 1991 |
X-autosome translocations: cytogenetic characteristics and their consequences MG Mattei, JF Mattei, S Ayme, F Giraud Human genetics 61, 295-309, 1982 | 188 | 1982 |
Constitutional chromosomal breakage F Giraud, S Ayme, JF Mattei, MG Mattei Human Genetics 34 (2), 125-136, 1976 | 185 | 1976 |
Congenital malformations and maternal occupational exposure to glycol ethers S Cordier, A Bergeret, J Goujard, MC Ha, S Aymé, F Bianchi, E Calzolari, ... Epidemiology 8 (4), 355-363, 1997 | 180 | 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 (2), S49-S87, 2003 | 172 | 2003 |
Maternal occupational risk factors for oral clefts C Lorente, S Cordier, A Bergeret, HEK De Walle, J Goujard, S Ayme, ... Scandinavian journal of work, environment & health, 137-145, 2000 | 164 | 2000 |
Prevalence of vernal keratoconjunctivitis: a rare disease? D Bremond-Gignac, J Donadieu, A Leonardi, P Pouliquen, S Doan, ... British journal of ophthalmology 92 (8), 1097-1102, 2008 | 144 | 2008 |
Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding S Aymé, B Bellet, A Rath Orphanet Journal of Rare Diseases 10, 1-14, 2015 | 135 | 2015 |
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), 63-78, 1992 | 129 | 1992 |
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy S Sacconi, E Trevisson, L Salviati, S Aymé, O Rigal, AG Redondo, ... Neuromuscular Disorders 20 (1), 44-48, 2010 | 122 | 2010 |
Maternal-age effect in aneuploidy: does altered embryonic selection play a role? S Ayme, A Lippman-Hand American Journal of Human Genetics 34 (4), 558, 1982 | 120 | 1982 |
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 (2), S13-S48, 2003 | 113 | 2003 |