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authFullName_s : Charles Coutton
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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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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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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
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

Juliette Coursimault , Anne-Marie Guerrot , Michelle Morrow , Catherine Schramm , Francisca Millan Zamora et al.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Journal articles hal-03820933v1
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Oligogenic heterozygous inheritance of sperm abnormalities in mouse

Guillaume Martinez , Charles Coutton , Corinne Loeuillet , Caroline Cazin , Jana Muroňová et al.
eLife, 2022, 11, pp.e75373. ⟨10.7554/eLife.75373⟩
Journal articles hal-03818177v1

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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From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene

Zine-Eddine Kherraf , Caroline Cazin , Florence Lestrade , Jana Muronova , Charles Coutton et al.
Asian Journal of Andrology, 2022, 24 (3), pp.243-247. ⟨10.4103/aja202194⟩
Journal articles hal-03720221v1

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet , Laurence Faivre , Jeanne Amiel , Mathilde Nizon , Renaud Touraine et al.
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal articles hal-02064139v1

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
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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.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Journal articles hal-01738521v1

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
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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

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

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
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Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome

John Rendu , Rodrick Montjean , Charles Coutton , Mohnish Suri , Gaetan Chicanne et al.
Human Mutation, 2017, 38 (2), pp.152-159. ⟨10.1002/humu.23139⟩
Journal articles hal-03828357v1

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

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

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

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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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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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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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⟩
Journal articles hal-01877992v1

10q26 deletion syndrome: a French cohort study

Hugo Thorn , Sylvie Odent , Jonathan Levy , Anne-Claude Tabet , Julien Thevenon et al.
54th European Society of Human Genetics (ESHG) Conference, Wiener Medizinische Akademie GmbH, Jun 2022, Wien, Austria. pp.323-324, ⟨10.1038/s41431-021-01026-1⟩
Conference papers hal-03693284v1

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

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

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
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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

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

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