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Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring.

Gwenaël Nadeau , Charles Coutton , Florence Amblard , Gabrielle Michalowicz , Sylvie Frasca et al.
Clin Chem Lab Med, 2012, pp.1-4. ⟨10.1515/cclm-2012-0416⟩
Journal articles hal-00807937v1

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Marie J Stasia , Michèle Mollin , Cécile Martel , Véronique Satre , Charles Coutton et al.
European Journal of Human Genetics, 2013, epub ahead of print. ⟨10.1038/ejhg.2012.310⟩
Journal articles hal-00809492v1

Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.

Marie José Stasia , Karin van Leeuwen , Martin de Boer , Cecile Martel , Michele Mollin et al.
Journal of Clinical Immunology, 2012, 32 (4), pp.653-62. ⟨10.1007/s10875-012-9667-2⟩
Journal articles istex hal-00809498v1

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⟩
Journal articles hal-03004953v1
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Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

Mariem Ben Khelifa , Charles Coutton , Raoudha Zouari , Thomas Karaouzène , John Rendu et al.
American Journal of Human Genetics, 2014, 94 (1), pp.95-104. ⟨10.1016/j.ajhg.2013.11.017⟩
Journal articles pasteur-01061012v1
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Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? A systematic review

Sophie Brouillet , Guillaume Martinez , Charles Coutton , Samir Hamamah
Reproductive BioMedicine Online, 2020, 40, pp.779 - 796. ⟨10.1016/j.rbmo.2020.02.002⟩
Journal articles hal-03490312v1

MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression

Lise-Marie Donnio , Baptiste Bidon , Satoru Hashimoto , Melanie May , Alexey Epanchintsev et al.
Human Molecular Genetics, 2017, 26 (11), pp.2062-2075. ⟨10.1093/hmg/ddx099⟩
Journal articles hal-03677802v1
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Characterization of the 9L gliosarcoma implanted in the Fischer rat: an orthotopic model for a grade IV brain tumor.

Audrey Bouchet , Marie Bidart , Imen Miladi , Céline Le Clec'H , Raphaël Serduc et al.
Tumor Biology, 2014, pp.6221-33. ⟨10.1007/s13277-014-1783-6⟩
Journal articles inserm-01077407v1

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series

Marion Lesieur-Sebellin , Marianne Till , Philippe Khau van Kien , Bérénice Herve , Nicolas Bourgon et al.
Prenatal Diagnosis, 2022, 42 (1), pp.118-135. ⟨10.1002/pd.6074⟩
Journal articles hal-03481652v1

Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11

Alice Goldenberg , Florence Riccardi , Aude Tessier , Rolph Pfundt , Tiffany Busa et al.
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
Journal articles istex hal-01469066v1

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility.

Zine-Eddine Kherraf , Amir Amiri-Yekta , Denis Dacheux , Thomas Karaouzène , Charles Coutton et al.
American Journal of Human Genetics, 2018, 103 (3), pp.400-412. ⟨10.1016/j.ajhg.2018.07.014⟩
Journal articles hal-01863586v1

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⟩
Journal articles hal-02350874v1

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⟩
Journal articles hal-02347512v1

Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X 0 -Linked, AR22 0 - and AR47 0 - Chronic Granulomatous Diseases

Julie Brault , Erwan Goutagny , Narasimha Telugu , Kaifeng Shao , Mathurin Baquié et al.
BioResearch Open Access, 2014, 3 (6), pp.311-326. ⟨10.1089/biores.2014.0045⟩
Journal articles hal-02298997v1

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Francesca Mattioli , Elise Schaefer , Alex Magee , Paul Mark , Grazia Mancini et al.
American Journal of Human Genetics, 2017, 100 (1), pp.105-116. ⟨10.1016/j.ajhg.2016.11.010⟩
Journal articles hal-03679170v1

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.

Cécile Martel , Michelle Mollin , Sylvain Beaumel , Jean Paul Brion , Charles Coutton et al.
Journal of Clinical Immunology, 2012, 32 (5), pp.942-58. ⟨10.1007/s10875-012-9698-8⟩
Journal articles istex hal-00809489v1
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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⟩
Journal articles hal-03004959v1
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Reprogramming glioma cell cultures with retinoic acid: Additional arguments for reappraising the potential of retinoic acid in the context of personalized glioma therapy

Matthieu Dreyfus , Michèle El-Atifi , Magali Court , Marie Bidart , Charles Coutton et al.
Glioma, 2018, 1 (2), pp.66-78. ⟨10.4103/glioma.glioma_3_18⟩
Journal articles inserm-01959941v1
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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⟩
Journal articles hal-03025179v1
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti et al.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Journal articles hal-02347889v1
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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⟩
Journal articles hal-02322935v1

Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development

Sandra Yassine , Jessica Escoffier , Guillaume Martinez , Charles Coutton , Thomas Karaouzene et al.
Molecular Human Reproduction, 2015, 21, pp.169-185. ⟨10.1093/molehr/gau099⟩
Journal articles cea-01745397v1
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New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella

Guillaume Martinez , Anne-Laure Barbotin , Caroline Cazin , Zeina Wehbe , Angèle Boursier et al.
International Journal of Molecular Sciences, 2023, 24 (3), pp.2559. ⟨10.3390/ijms24032559⟩
Journal articles hal-04011973v1
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Sébastien Jacquemont , Alexandre Reymond , Flore Zufferey , Louise Harewood , Robin G. Walters et al.
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Journal articles inserm-00619240v1
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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⟩
Journal articles hal-03369854v1
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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⟩
Journal articles hal-03365058v1

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 et al.
Basic and clinical andrology, 2019, 29 (1), ⟨10.1186/s12610-019-0083-9⟩
Journal articles hal-02350815v1
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From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Haifa Hichri , John Rendu , Nicole Monnier , Charles Coutton , Olivier Dorseuil et al.
Human Mutation, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Journal articles istex inserm-00639693v1

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Tristan Celse , Angèle Tingaud-Sequeira , Klaus Dieterich , Geraldine Siegfried , Cédric Lecaignec et al.
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108678. ⟨10.1136/jmg-2022-108678⟩
Journal articles hal-03996847v1

Prokineticin 1 is a new biomarker of human oocyte competence: expression and hormonal regulation throughout late folliculogenesis

Nadia Alfaidy , Chloé Baron , Yannick Antoine , Déborah Reynaud , Wael Traboulsi et al.
Biology of Reproduction, 2019, ⟨10.1093/biolre/ioz114⟩
Journal articles hal-02353787v1