Pierre RAY

57
Documents

Publications

Publications

A recurrent loss‐of‐function variant in DRC1 causes non‐syndromic severe asthenozoospermia with favorable intracytoplasmic sperm injection and pregnancy outcomes

Célia Tebbakh , Anne‐laure Barbotin , Guillaume Martinez , Angèle Boursier , Zeina Wehbe et al.
Andrology, 2025, ⟨10.1111/andr.13837⟩
Article dans une revue hal-04920445 v1
Image document

Administration of ethiodized poppy seed oil-based contrast agent into the uterus enhances fertilization rate in mice inseminated with low sperm numbers

Edgar del Llano , Marlene Rasschaert , Christophe Arnoult , Philippe Robert , Pierre F Ray et al.
Human Reproduction, 2025, Online ahead of print. ⟨10.1093/humrep/deaf204⟩
Article dans une revue hal-05354591 v1
Image document

A comprehensive study of the sperm head defects in MMAF condition and their impact on embryo development in mice

Jana Muroňová , Emeline Lambert , Chanyuth Thamwan , Zeina Wehbe , Magali Court et al.
Molecular Human Reproduction, 2025, 31 (1), ⟨10.1093/molehr/gaaf006⟩
Article dans une revue hal-05354598 v1
Image document

Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants.

Zeina Wehbe , Anne-Laure Barbotin , Angèle Boursier , Caroline Cazin , Jean‐pascal Hograindleur et al.
Andrology, 2024, 13 (5), pp.1137-1148. ⟨10.1111/andr.13730⟩
Article dans une revue hal-04700579 v1
Image document

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

Jana Muroňová , Zine-Eddine Kherraf , Elsa Giordani , Simon Eckert , Caroline Cazin et al.
Article dans une revue hal-04236524 v1
Image document

Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non-obstructive azoospermia in an Iranian family

Amir Amiri-Yekta , Sharanya Sen , Florence Hazane-Puch , Célia Tebbakh , Nathalie Roux-Buisson et al.
Clinical Genetics, 2024, 106 (5), pp.625-631. ⟨10.1111/cge.14584⟩
Article dans une revue hal-04633652 v1
Image document

A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility

Zine-Eddine Kherraf , Anne-Laure Barbotin , Guillaume Martinez , Aurélien Mazet , Caroline Cazin et al.
Clinical Genetics, 2024, 105 (2), pp.220-225. ⟨10.1111/cge.14450⟩
Article dans une revue hal-04780903 v1
Image document

Phenotypic continuum and poor intracytoplasmic sperm injection intracytoplasmic sperm injection prognosis in patients harboring HENMT1 variants

Zeina Wehbe , Anne‐laure Barbotin , Angèle Boursier , Caroline Cazin , Jean‐pascal Hograindleur et al.
Andrology, 2024, Online ahead of print. ⟨10.1111/andr.13730⟩
Article dans une revue hal-04781935 v1
Image document

Sperm fertility in mice with oligo-astheno-teratozoospermia restored by in vivo injection and electroporation of naked mRNA

Charline Vilpreux , Guillaume Martinez , Magali Court , Florence Appaix , Jean-Luc Duteyrat et al.
Article dans une revue hal-04780939 v1
Image document

A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility

Zine‐eddine Kherraf , Anne‐laure Barbotin , Guillaume Martinez , Aurélien Mazet , Caroline Cazin et al.
Clinical Genetics, 2023, 105 (2), pp.220-225. ⟨10.1111/cge.14450⟩
Article dans une revue hal-04601943 v1
Image document

CCDC65, encoding a component of the axonemal Nexin-Dynein Regulatory Complex, is required for sperm flagellum structure in humans

Fadwa Jreijiri , Emma Cavarocchi , Amir Amiri-Yekta , Caroline Cazin , Seyedeh‐hanieh Hosseini et al.
Clinical Genetics, 2023, 105 (3), pp.317-322. ⟨10.1111/cge.14459⟩
Article dans une revue hal-05401224 v1
Image document

Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function

Denis Dacheux , Guillaume Martinez , Christine Broster Reix , Julie Beurois , Patrick Lorès et al.
Article dans une revue hal-04241708 v1

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters

Alicia Coudert , Caroline Cazin , Amir Amiri-Yekta , Selima Fourati Ben Mustapha , Raoudha Zouari et al.
International Journal of Genetics and Genomics, 2023, 50 (7), pp.536-540. ⟨10.1016/j.jgg.2023.04.007⟩
Article dans une revue hal-04256999 v2
Image document

A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females

Corinne Loeuillet , Magali Dhellemmes , Caroline Cazin , Zine‐eddine Kherraf , Selima Fourati Ben Mustapha et al.
Clinical Genetics, 2022, 102 (1), pp.22-29. ⟨10.1111/cge.14144⟩
Article dans une revue hal-03720194 v1
Image document

Recommandations de l’AFU et de la SALF concernant l’ évaluation de l’homme infertile

Eric Huyghe , Florence Boitrelle , Charlotte Methorst , Roger Mieusset , Pierre Ray et al.
Progrès en Urologie, 2021, 31 (3), pp.131-144. ⟨10.1016/j.purol.2020.09.011⟩
Article dans une revue hal-03184036 v1
Image document

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

Tristan Celse , Caroline Cazin , Flore Mietton , Guillaume Martinez , Delphine Martinez et al.
Human Genetics, 2021, Molecular Genetics of Male Infertility, 140 (1), pp.43-57. ⟨10.1007/s00439-020-02229-0⟩
Article dans une revue hal-03025179 v1
Image document

Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa

Caroline Cazin , Yasmine Boumerdassi , Guillaume Martinez , Selima Fourati Ben Mustapha , Marjorie Whitfield et al.
International Journal of Molecular Sciences, 2021, 22 (4), pp.2187. ⟨10.3390/ijms22042187⟩
Article dans une revue hal-03365058 v1
Image document

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl Syndrome

Patrick Lorès , Zine-Eddine Kherraf , Amir Amiri-Yekta , Marjorie Whitfield , Abbas Daneshipour et al.
Human Genetics, 2021, 140 (7), pp.1031-1043. ⟨10.1007/s00439-021-02270-7⟩
Article dans une revue hal-03369854 v1
Image document

Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse

Qunshan Shen , Guillaume Martinez , Hongbin Liu , Julie Beurois , Huan Wu et al.
Human Genetics, 2021, 140 (9), pp.1367-1377. ⟨10.1007/s00439-021-02313-z⟩
Article dans une revue hal-03365264 v1
Image document

The sodium/proton exchanger SLC9C1 ( sNHE ) is essential for human sperm motility and fertility

Emma Cavarocchi , Marjorie Whitfield , Ahmed Chargui , Laurence Stouvenel , Patrick Lorès et al.
Clinical Genetics, 2021, 99 (5), pp.684-693. ⟨10.1111/cge.13927⟩
Article dans une revue hal-03369825 v1

Genetic diagnosis, sperm phenotype and ICSI outcome in case of severe asthenozoospermia with multiple morphological abnormalities of the flagellum

Lucile Ferreux , Mathilde Bourdon , Ahmed Chargui , Alain Schmitt , Laurence Stouvenel et al.
Human Reproduction, 2021, 36 (11), pp.2848-2860. ⟨10.1093/humrep/deab200⟩
Article dans une revue hal-03873460 v1

Diversity of RNA-Binding Proteins Modulating Post-Transcriptional Regulation of Protein Expression in the Maturing Mammalian Oocyte

Marie Christou-Kent , Magali Dhellemmes , Emeline Lambert , Pierre Ray , Christophe Arnoult
Cells, 2020, 9 (3), pp.662. ⟨10.3390/cells9030662⟩
Article dans une revue hal-03005093 v1

The genetic architecture of morphological abnormalities of the sperm tail

Aminata Touré , Guillaume Martinez , Zine-Eddine Kherraf , Caroline Cazin , Julie Beurois et al.
Human Genetics, 2020, ⟨10.1007/s00439-020-02113-x⟩
Article dans une revue hal-03004953 v1
Image document

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Guillaume Martinez , Julie Beurois , Denis Dacheux , Caroline Cazin , Marie Bidart et al.
Journal of Medical Genetics, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
Article dans une revue hal-03004959 v1
Image document

Paternal epigenetics: Mammalian sperm provide much more than DNA at fertilization

Emilie Le Blévec , Jana Muroňová , Pierre Ray , Christophe Arnoult
Molecular and Cellular Endocrinology, 2020, 518, pp.110964. ⟨10.1016/j.mce.2020.110964⟩
Article dans une revue hal-03005088 v1

Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

Chunyu Liu , Haruhiko Miyata , Yang Gao , Yanwei Sha , Shuyan Tang et al.
American Journal of Human Genetics, 2020, 107 (2), pp.330-341. ⟨10.1016/j.ajhg.2020.06.004⟩
Article dans une revue hal-03004971 v1
Image document

Genetics of teratozoospermia: Back to the head

Julie Beurois , Caroline Cazin , Zine-Eddine Kherraf , Guillaume Martinez , Tristan Celse et al.
Best Practice and Research: Clinical Endocrinology and Metabolism, 2020, 34 (6), pp.101473. ⟨10.1016/j.beem.2020.101473⟩
Article dans une revue hal-03004973 v1

Pantoprazole, a proton‐pump inhibitor, impairs human sperm motility and capacitation in vitro

Jessica Escoffier , Bastien Arnaud , Mayis Kaba , Jean Pascal Hograindleur , Emilie Le Blévec et al.
Andrology, 2020, 8 (6), pp.1795-1804. ⟨10.1111/andr.12855⟩
Article dans une revue hal-03005086 v1
Image document

Enzymatic activity of mouse group X-sPLA2 improves in vitro production of preimplantation bovine embryos

Guillaume Martinez , Jean-Pascal Hograindleur , Louise Jeammet , Emilie Le Blévec , Charles Coutton et al.
Theriogenology, 2019, 131, pp.113-122. ⟨10.1016/j.theriogenology.2019.03.030⟩
Article dans une revue hal-02324031 v1
Image document

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

C. Coutton , G. Martinez , Z.-E. Kherraf , A. Amiri-Yekta , M. Boguenet et al.
American Journal of Human Genetics, 2019, 104 (2), pp.331-340. ⟨10.1016/j.ajhg.2018.12.013⟩
Article dans une revue hal-02003335 v1

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

Zine‐eddine Kherraf , Caroline Cazin , Charles Coutton , Amir Amiri‐yekta , Guillaume Martinez et al.
Clinical Genetics, 2019, 96 (5), pp.394-401. ⟨10.1111/cge.13604⟩
Article dans une revue hal-02347512 v1
Image document

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia.

Julie Beurois , Guillaume Martinez , Caroline Cazin , Zine-Eddine Kherraf , Amir Amiri-Yekta et al.
Human Reproduction, 2019, 96 (5), pp.394-401. ⟨10.1093/humrep/dez166⟩
Article dans une revue hal-02322935 v1

Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum

Jean-Fabrice Nsota Mbango , Charles Coutton , Christophe Arnoult , Pierre Ray , Aminata Touré
Basic and clinical andrology, 2019, 29 (1), ⟨10.1186/s12610-019-0083-9⟩
Article dans une revue hal-02350815 v1
Image document

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

Patrick Lorès , Denis Dacheux , Zine-Eddine Kherraf , Jean-Fabrice Nsota Mbango , Charles Coutton et al.
American Journal of Human Genetics, 2019, ⟨10.1016/j.ajhg.2019.10.007⟩
Article dans une revue hal-02370384 v1

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse

Frederick Dong , Amir Amiri-Yekta , Guillaume Martinez , Antoine Saut , Julie Tek et al.
American Journal of Human Genetics, 2018, 102 (4), pp.636 - 648. ⟨10.1016/j.ajhg.2018.03.007⟩
Article dans une revue hal-01877985 v1
Image document

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice

Marie Christou‐kent , Zine‐eddine Kherraf , Amir Amiri‐yekta , Emilie Le Blévec , Thomas Karaouzène et al.
EMBO Molecular Medicine, 2018, 10 (5), pp.e8515. ⟨10.15252/emmm.201708515⟩
Article dans une revue hal-01877992 v1

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

Graciane Petre , Patrick Lorès , Hervé Sartelet , Aurélie Truffot , Brice Poreau et al.
Clinical Genetics, 2018, 94 (6), pp.575-580. ⟨10.1111/cge.13449⟩
Article dans une revue hal-02350874 v1
Image document

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 dyskinesia

Patrick Lorès , Charles Coutton , Elma El Khouri , Laurence Stouvenel , Maelle Givelet et al.
Human Molecular Genetics, 2018, 27 (7), pp.1196-1211. ⟨10.1093/hmg/ddy034⟩
Article dans une revue hal-02346745 v1

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

Guillaume Martinez , Zine-Eddine Kherraf , Raoudha Zouari , Selima Fourati Ben Mustapha , Antoine Saut et al.
Human Reproduction, 2018, 33 (10), pp.1973 - 1984. ⟨10.1093/humrep/dey264⟩
Article dans une revue hal-01877993 v1

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

Jessica Escoffier , Hoi Chang Lee , Sandra Yassine , Raoudha Zouari , Guillaume Martinez et al.
Human Molecular Genetics, 2016, 25 (5), pp.878 - 891. ⟨10.1093/hmg/ddv617⟩
Article dans une revue hal-01877966 v1

A new mutation identified in SPATA16 in two globozoospermic patients

Elias Elinati , Camille Fossard , Ozlem Okutman , Houda Ghédir , Samira Ibala-Romdhane et al.
Journal of Assisted Reproduction and Genetics, 2016, 33 (6), pp.815-820. ⟨10.1007/s10815-016-0715-3⟩
Article dans une revue hal-03680057 v1

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies

Caroline Bosson , Françoise Devillard , Véronique Satre , Klaus Dieterich , Pierre Ray et al.
American Journal of Medical Genetics Part A, 2016, 170 (2), pp.498-503. ⟨10.1002/ajmg.a.37450⟩
Article dans une revue istex hal-01980733 v1
Image document

Comparative testicular transcriptome of wild type and globozoospermic Dpy19l2 knock out mice

Thomas Karaouzène , Michèle El Atifi , Jean-Paul Issartel , Marianne Grepillat , Charles Coutton et al.
Basic and Clinical Andrology, 2013, 23 (1), pp.7
Article dans une revue inserm-00880088 v1
Image document

A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.

Radu Harbuz , Raoudha Zouari , Virginie Pierre , Mariem Ben Khelifa , Mahmoud Kharouf et al.
American Journal of Human Genetics, 2011, 88 (3), pp.351-61. ⟨10.1016/j.ajhg.2011.02.007⟩
Article dans une revue inserm-00588067 v1
Image document

A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.

Mariem Ben Khelifa , Raoudha Zouari , Radu Harbuz , Lazhar Halouani , Christophe Arnoult et al.
Molecular Human Reproduction, 2011, 17 (12), pp.762-8. ⟨10.1093/molehr/gar050⟩
Article dans une revue inserm-00639414 v1

DPY19L2 Deletion as a Major Cause of Globozoospermia

Isabelle Koscinski , Elias Elinati , Camille Fossard , Claire Redin , Jean Muller et al.
American Journal of Human Genetics, 2011, 88 (3), pp.344-350. ⟨10.1016/j.ajhg.2011.01.018⟩
Article dans une revue hal-05007899 v1
Image document

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

Radu Harbuz , James Lespinasse , Stéphanie Boulet , Christine Francannet , Isabelle Creveaux et al.
Prenatal Diagnosis, 2010, 30 (11), pp.1072-8. ⟨10.1002/pd.2613⟩
Article dans une revue istex inserm-00588282 v1
Image document

Snake venoms as a source of compounds modulating sperm physiology: Secreted phospholipases A2 from Oxyuranus scutellatus scutellatus impact sperm motility, acrosome reaction and in vitro fertilization in mice.

Jessica Escoffier , Morgane Couvet , Harold de Pomyers , Pierre F. Ray , Michel Seve et al.
Biochimie, 2010, 92 (7), pp.826-36. ⟨10.1016/j.biochi.2010.03.003⟩
Article dans une revue hal-00497569 v1
Image document

[Function of aurora kinase C (AURKC) in human reproduction]

Radu Harbuz , Raoudha Zouari , Klaus Dieterich , Yorgos Nikas , Joël Lunardi et al.
Gynécologie Obstétrique & Fertilité, 2009, 37 (6), pp.546-51. ⟨10.1016/j.gyobfe.2009.04.002⟩
Article dans une revue inserm-00515896 v1
Image document

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.

Klaus Dieterich , Raoudha Zouari , Radu Harbuz , François Vialard , Delphine Martinez et al.
Human Molecular Genetics, 2009, 18 (7), pp.1301-9. ⟨10.1093/hmg/ddp029⟩
Article dans une revue inserm-00410300 v1
Image document

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

Klaus Dieterich , Ricardo Soto Rifo , Anne Karen Faure , Sylviane Hennebicq , Baha Ben Amar et al.
Nature Genetics, 2007, 39 (5), pp.661-5. ⟨10.1038/ng2027⟩
Article dans une revue inserm-00381942 v1

3D live cell imaging of whole organoids in time-lapse using intensity diffraction tomography

William Pierré , Lionel Hervé , Cédric Allier , Sophie Morales , Sergei Grudinin et al.
SPIE Photonics Europe, Apr 2022, Strasbourg, France. ⟨10.1117/12.2625734⟩
Communication dans un congrès hal-03874785 v1

Deep learning framework applied to optical diffraction tomography (ODT)

William Pierré , Lionel Hervé , Cédric Allier , Sophie Morales , Sergei Grudinin et al.
Three-Dimensional and Multidimensional Microscopy: Image Acquisition and Processing XXVIII, SPIE, Mar 2021, Online Only, France. pp.1, ⟨10.1117/12.2582361⟩
Communication dans un congrès hal-03454249 v1