| Cerebral palsy and intrauterine growth in single births: European collaborative study S Jarvis, SV Glinianaia, MG Torrioli, MJ Platt, M Miceli, PS Jouk, ... The Lancet 362 (9390), 1106-1111, 2003 | 414 | 2003 |
| Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella MB Khelifa, C Coutton, R Zouari, T Karaouzène, J Rendu, M Bidart, ... The American Journal of Human Genetics 94 (1), 95-104, 2014 | 405 | 2014 |
| Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility K Dieterich, R Soto Rifo, AK Faure, S Hennebicq, B Ben Amar, M Zahi, ... Nature genetics 39 (5), 661-665, 2007 | 328 | 2007 |
| Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA P Edery, C Marcaillou, M Sahbatou, A Labalme, J Chastang, R Touraine, ... Science 332 (6026), 240-243, 2011 | 241 | 2011 |
| A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation R Harbuz, R Zouari, V Pierre, MB Khelifa, M Kharouf, C Coutton, ... The American Journal of Human Genetics 88 (3), 351-361, 2011 | 235 | 2011 |
| Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human C Coutton, AS Vargas, A Amiri-Yekta, ZE Kherraf, SF Ben Mustapha, ... Nature communications 9 (1), 686, 2018 | 195 | 2018 |
| Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy G Millat, P Bouvagnet, P Chevalier, C Dauphin, PS Jouk, A Da Costa, ... European journal of medical genetics 53 (5), 261-267, 2010 | 179 | 2010 |
| Three-dimensional cartography of the pattern of the myofibres in the second trimester fetal human heart PS Jouk, Y Usson, G Michalowicz, L Grossi Anatomy and embryology 202, 103-118, 2000 | 142 | 2000 |
| Cytomegalovirus seroprevalence in French pregnant women: parity and place of birth as major predictive factors B Gratacap-Cavallier, JL Bosson, P Morand, N Dutertre, B Chanzy, ... European journal of epidemiology 14, 147-152, 1998 | 136 | 1998 |
| The Aurora Kinase C c. 144delC mutation causes meiosis I arrest in men and is frequent in the North African population K Dieterich, R Zouari, R Harbuz, F Vialard, D Martinez, H Bellayou, ... Human Molecular Genetics 18 (7), 1301-1309, 2009 | 131 | 2009 |
| Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy G Millat, P Bouvagnet, P Chevalier, L Sebbag, A Dulac, C Dauphin, ... European Journal of Medical Genetics 54 (6), e570-e575, 2011 | 127 | 2011 |
| Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects A Laquérriere, J Maluenda, A Camus, L Fontenas, K Dieterich, F Nolent, ... Human molecular genetics 23 (9), 2279-2289, 2014 | 113 | 2014 |
| The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis K Dieterich, S Quijano-Roy, N Monnier, J Zhou, J Fauré, DA Smirnow, ... Human molecular genetics 22 (8), 1483-1492, 2013 | 83 | 2013 |
| MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia C Coutton, R Zouari, F Abada, M Ben Khelifa, G Merdassi, C Triki, ... Human Reproduction 27 (8), 2549-2558, 2012 | 81 | 2012 |
| Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome M Legendre, V Abadie, T Attié‐Bitach, N Philip, T Busa, D Bonneau, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 79 | 2017 |
| Analysis of the fiber architecture of the heart by quantitative polarized light microscopy. Accuracy, limitations and contribution to the study of the fiber architecture of the … PS Jouk, A Mourad, V Milisic, G Michalowicz, A Raoult, D Caillerie, ... European journal of cardio-thoracic surgery 31 (5), 915-921, 2007 | 75 | 2007 |
| Trends in elective terminations of pregnancy between 1989 and 2000 in a French county (the Isere) P Guillem, B Fabre, C Cans, E Robert‐Gnansia, PS Jouk Prenatal Diagnosis: Published in Affiliation With the International Society …, 2003 | 74 | 2003 |
| Low but increasing prevalence of autism spectrum disorders in a French area from register-based data MME van Bakel, M Delobel-Ayoub, C Cans, B Assouline, PS Jouk, ... Journal of autism and developmental disorders 45, 3255-3261, 2015 | 70 | 2015 |
| Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia M Ben Khelifa, C Coutton, MGB Blum, F Abada, R Harbuz, R Zouari, ... Human reproduction 27 (11), 3337-3346, 2012 | 69 | 2012 |
| A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect ofEDN3/EDNRB gene mutations on neurocristopathy phenotypes? V Pingault, N Bondurand, N Lemort, M Sancandi, I CECCHERINI, ... Journal of medical genetics 38 (3), 205-209, 2001 | 68 | 2001 |
