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 | 426 | 2014 |
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 | 205 | 2018 |
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia E Kott, P Duquesnoy, B Copin, M Legendre, F Dastot-Le Moal, ... The American Journal of Human Genetics 91 (5), 958-964, 2012 | 196 | 2012 |
MgcRacGAP, a new human GTPase-activating protein for Rac and Cdc42 similar to Drosophila rotundRacGAP gene product, is expressed in male germ cells A Touré, O Dorseuil, L Morin, P Timmons, B Jégou, L Reibel, G Gacon Journal of Biological Chemistry 273 (11), 6019-6023, 1998 | 188 | 1998 |
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 | 168 | 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 | 161 | 2021 |
Mutations in DNAH17, encoding a sperm-specific axonemal outer dynein arm heavy chain, cause isolated male infertility due to asthenozoospermia M Whitfield, L Thomas, E Bequignon, A Schmitt, L Stouvenel, G Montantin, ... The American Journal of Human Genetics 105 (1), 198-212, 2019 | 148 | 2019 |
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 | 141 | 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 | 134 | 2019 |
Bi-allelic DNAH8 variants lead to multiple morphological abnormalities of the sperm flagella and primary male infertility C Liu, H Miyata, Y Gao, Y Sha, S Tang, Z Xu, M Whitfield, C Patrat, H Wu, ... The American Journal of Human Genetics 107 (2), 330-341, 2020 | 125 | 2020 |
The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse A Touré, P Lhuillier, JA Gossen, CW Kuil, D Lhôte, B Jégou, D Escalier, ... Human molecular genetics 16 (15), 1783-1793, 2007 | 117 | 2007 |
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary … P Lorès, C Coutton, E El Khouri, L Stouvenel, M Givelet, L Thomas, ... Human Molecular Genetics 27 (7), 1196-1211, 2018 | 111 | 2018 |
Deletions on mouse Yq lead to upregulation of multiple X-and Y-linked transcripts in spermatids PJI Ellis, EJ Clemente, P Ball, A Touré, L Ferguson, JMA Turner, ... Human molecular genetics 14 (18), 2705-2715, 2005 | 111 | 2005 |
Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella G Martinez, ZE Kherraf, R Zouari, S Fourati Ben Mustapha, A Saut, ... Human Reproduction 33 (10), 1973-1984, 2018 | 110 | 2018 |
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia T Dirami, B Rode, M Jollivet, N Da Silva, D Escalier, N Gaitch, C Norez, ... The American Journal of Human Genetics 92 (5), 760-766, 2013 | 110 | 2013 |
Inactivation of AMPKα1 induces asthenozoospermia and alters spermatozoa morphology P Tartarin, E Guibert, A Touré, C Ouiste, J Leclerc, N Sanz, S Brière, ... Endocrinology 153 (7), 3468-3481, 2012 | 108 | 2012 |
A New Deletion of the Mouse Y Chromosome Long Arm Associated With the Loss of Ssty Expression, Abnormal Sperm Development and Sterility A Touré, M Szot, SK Mahadevaiah, A Rattigan, OA Ojarikre, PS Burgoyne Genetics 166 (2), 901-912, 2004 | 108 | 2004 |
Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling A Touré, L Morin, C Pineau, F Becq, O Dorseuil, G Gacon Journal of Biological Chemistry 276 (23), 20309-20315, 2001 | 105 | 2001 |
Identification of novel Y chromosome encoded transcripts by testis transcriptome analysis of mice with deletions of the Y chromosome long arm A Touré, EJ Clemente, PJI Ellis, SK Mahadevaiah, OA Ojarikre, PAF Ball, ... Genome biology 6, 1-15, 2005 | 104 | 2005 |
Mutations in DNAJB13, encoding an HSP40 family member, cause primary ciliary dyskinesia and male infertility E El Khouri, L Thomas, L Jeanson, E Bequignon, B Vallette, P Duquesnoy, ... The American Journal of Human Genetics 99 (2), 489-500, 2016 | 98 | 2016 |