|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
|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
|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
|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
|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
|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
|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
|Increasing the denaturation temperature during the first cycles of amplification reduced allele dropout from single cells for preimplantation genetic diagnosis|
MHR: Basic science of reproductive medicine 2 (3), 213-218, 1996
|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
|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), 1-18, 2018
|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
|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
|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
|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
|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
|Paternal transcripts for glucose‐6‐phosphate dehydrogenase and adenosine deaminase are first detectable in the human preimplantation embryo at the Three‐to Four‐Cell stage|
DM Taylor, PF Ray, A Ao, RML Winston, AH Handyside
Molecular Reproduction and Development: Incorporating Gamete Research 48 (4 …, 1997
|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
|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
|SPINK 2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes|
ZE Kherraf, M Christou‐Kent, T Karaouzene, A Amiri‐Yekta, G Martinez, ...
EMBO molecular medicine 9 (8), 1132-1149, 2017
|Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation|
J Escoffier, S Yassine, HC Lee, G Martinez, J Delaroche, C Coutton, ...
Mhr: Basic science of reproductive medicine 21 (2), 157-168, 2015