| 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 | 931 | 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 | 329 | 2007 |
| Teratozoospermia: spotlight on the main genetic actors in the human C Coutton, J Escoffier, G Martinez, C Arnoult, PF Ray Human reproduction update 21 (4), 455-485, 2015 | 325 | 2015 |
| Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human N Roux-Buisson, M Cacheux, A Fourest-Lieuvin, J Fauconnier, J Brocard, ... Human molecular genetics 21 (12), 2759-2767, 2012 | 312 | 2012 |
| Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis lan Findlay, P Ray, P Quirke, A Rutherford, R Lilford MHR: Basic science of reproductive medicine 1 (4), 209-218, 1995 | 238 | 1995 |
| 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 |
| DPY19L2 deletion as a major cause of globozoospermia I Koscinski, E ElInati, C Fossard, C Redin, J Muller, JV de la Calle, ... The American Journal of Human Genetics 88 (3), 344-350, 2011 | 225 | 2011 |
| Increased number of cells and metabolic activity in male human preimplantation embryos following in vitro fertilization PF Ray, J Conaghan, RML Winston, AH Handyside Reproduction 104 (1), 165-171, 1995 | 203 | 1995 |
| 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 |
| Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus V Pierre, G Martinez, C Coutton, J Delaroche, S Yassine, C Novella, ... Development 139 (16), 2955-2965, 2012 | 189 | 2012 |
| Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis J Steffann, N Frydman, N Gigarel, P Burlet, PF Ray, R Fanchin, ... Journal of medical genetics 43 (3), 244-247, 2006 | 174 | 2006 |
| Increasing the denaturation temperature during the first cycles of amplification reduced allele dropout from single cells for preimplantation genetic diagnosis PF Ray MHR: Basic science of reproductive medicine 2 (3), 213-218, 1996 | 162 | 1996 |
| Genetic abnormalities leading to qualitative defects of sperm morphology or function PF Ray, A Toure, C Metzler‐Guillemain, MJ Mitchell, C Arnoult, C Coutton Clinical Genetics 91 (2), 217-232, 2017 | 160 | 2017 |
| The genetic architecture of morphological abnormalities of the sperm tail A Touré, G Martinez, ZE Kherraf, C Cazin, J Beurois, C Arnoult, PF Ray, ... Human Genetics 140 (1), 21-42, 2021 | 151 | 2021 |
| Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP J Escoffier, HC Lee, S Yassine, R Zouari, G Martinez, T Karaouzène, ... Human molecular genetics 25 (5), 878-891, 2016 | 150 | 2016 |
| Absence of CFAP69 causes male infertility due to multiple morphological abnormalities of the flagella in human and mouse FN Dong, A Amiri-Yekta, G Martinez, A Saut, J Tek, L Stouvenel, P Lorès, ... The American Journal of Human Genetics 102 (4), 636-648, 2018 | 135 | 2018 |
| Bi-allelic mutations in ARMC2 lead to severe astheno-teratozoospermia due to sperm flagellum malformations in humans and mice C Coutton, G Martinez, ZE Kherraf, A Amiri-Yekta, M Boguenet, A Saut, ... The American Journal of Human Genetics 104 (2), 331-340, 2019 | 132 | 2019 |
| 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 |
| Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations A Amiri-Yekta, C Coutton, ZE Kherraf, T Karaouzène, P Le Tanno, ... Human Reproduction, 1-9, 2016 | 125 | 2016 |
