C. Coutton

L. Salomon, C. Bénéteau, M. Vekemans, 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

P. Marynen, T. Bose, M. Roselló, 2012, American journal of human genetics.

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

J. Mandel, G. Mancini, M. V. van Slegtenhorst, 2017, American journal of human genetics.

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

M. Mussini, L. Garavelli, R. Pascarella, 2016, Molecular Syndromology.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature

P. Chambon, F. Vialard, J. Dupont, 2022, Andrology.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

R. Pfundt, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

17p13.1 microduplication in a boy with Silver–Russell syndrome features and intellectual disability

P. Jouk, C. Coutton, V. Satre, 2012, American journal of medical genetics. Part A.

Intellectual disability, oncogenes and tumour suppressor genes: the way forward?

C. Coutton, M. Bidart, M. Bidart, 2012, Journal of Genetics.

Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France

L. Salomon, C. Rooryck, C. Bénéteau, 2019, Prenatal diagnosis.

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.

Shimin Zhao, P. Ray, L. Jin, 2019, American journal of human genetics.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American journal of medical genetics. Part A.

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

P. Mermillod, G. Lambeau, P. Ray, 2019, Theriogenology.

The genetic architecture of morphological abnormalities of the sperm tail

P. Ray, Zine-Eddine Kherraf, Caroline Cazin, 2020, Human Genetics.

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

N. Thierry-Mieg, P. Ray, H. Gourabi, 2019, Clinical genetics.

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH 2 mutations

N. Thierry-Mieg, P. Ray, H. Gourabi, 2019 .

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

S. Brouillet, P. Ray, C. Coutton, 2016, Human reproduction.

Male Infertility: Genetics, Mechanism, and Therapies

C. Coutton, A. Touré, G. Palermo, 2016, BioMed research international.

Single gene defects leading to sperm quantitative anomalies

M. Mitchell, P. Ray, C. Metzler-Guillemain, 2017, Clinical genetics.

Bypassing Mendel’s First Law: Transmission Ratio Distortion in Mammals

C. Voisset, Elvira Nikalayevich, C. Coutton, 2023, International journal of molecular sciences.

In vitro study of Seraspenide on HIV‐induced inhibition of granulopoiesis

J. Chermann, C. Coutton, 1997, European journal of haematology.

Oligogenic heterozygous inheritance of sperm abnormalities in mouse

P. Ray, S. Nef, Zine-Eddine Kherraf, 2021, bioRxiv.

Deslorelin acetate implant induces transient sterility and behavior changes in male olive baboon (Papio anubis): A case study

S. Brouillet, S. Garbit, C. Coutton, 2020, Journal of medical primatology.

Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.

N. Thierry-Mieg, P. Ray, L. Raymond, 2022, American journal of human genetics.

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

Thomas Karaouzene, Nicolas Thierry-Mieg, Serge Nef, 2017, EMBO molecular medicine.

Teratozoospermia: spotlight on the main genetic actors in the human.

P. Ray, C. Coutton, C. Arnoult, 2015, Human reproduction update.

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men

P. Ray, J. Fauré, C. Coutton, 2014, Asian journal of andrology.

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

N. Thierry-Mieg, B. Conne, P. Ray, 2019, American journal of human genetics.

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

P. Jouk, S. Viville, F. Abada, 2011, American journal of human genetics.

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature

S. Brouillet, C. Coutton, G. Martinez, 2018, Basic and Clinical Andrology.

FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes)

S. Brouillet, C. Coutton, C. Arnoult, 2021, International journal of molecular sciences.

New insights in Cercopithecinae spermatozoa.

S. Brouillet, C. Coutton, C. Arnoult, 2021, Zygote.

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

P. Ray, S. Savinov, F. Guillonneau, 2019, American journal of human genetics.

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

S. Amselem, P. Ray, S. Savinov, 2018, Human molecular genetics.

Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes

B. Conrad, M. Callanan, J. Stéphan, 2012, Journal of Clinical Immunology.

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

J. Rendu, N. Monnier, J. Lunardi, 2010, Clinical biochemistry.

Characterization of the 9L gliosarcoma implanted in the Fischer rat: an orthotopic model for a grade IV brain tumor

J. Laissue, S. Dufort, E. Khalil, 2014, Tumor Biology.

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

P. Sonigo, L. Salomon, C. Bénéteau, 2021, Prenatal diagnosis.

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

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

Array-CGH in children with mild intellectual disability: a population-based study

C. Cans, P. Jouk, C. Coutton, 2014, European Journal of Pediatrics.

Ankrd31 in Sperm and Epididymal Integrity

P. Froment, L. Beauclair, R. Chianese, 2021, Frontiers in Cell and Developmental Biology.

Rapid Proteomic Profiling by MALDI‐TOF Mass Spectrometry for Better Brain Tumor Classification

J. Rendu, P. Ray, C. Coutton, 2020, Proteomics. Clinical applications.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

C. Garel, J. Andrieux, B. Delobel, 2021, Clinical genetics.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Jean-François Taly, J. Thevenon, B. Cogné, 2021, Journal of Medical Genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, bioRxiv.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, npj Genomic Medicine.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

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

N. Thierry-Mieg, B. Conne, P. Ray, 2018, EMBO Molecular Medicine.

J. Gécz, A. Epanchintsev, C. Skinner, 2017, Human molecular genetics.

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

N. Thierry-Mieg, P. Ray, Zine-Eddine Kherraf, 2021, International journal of molecular sciences.

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

M. Blum, N. Thierry-Mieg, P. Ray, 2018, American journal of human genetics.

Mise au point du dosage génique du gène OCRL1 par Multiplex Ligation-dependent Probe Amplification (MLPA) : application au syndrome de Lowe et à la maladie de Dent

C. Coutton, 2009 .

Immortalization of primary sheep embryo kidney cells

Y. Chebloune, C. Coutton, S. El Kennani, 2021, In Vitro Cellular & Developmental Biology - Animal.

Immortalization of primary sheep embryo kidney cells

J. Gagnon, Y. Chebloune, C. Coutton, 2021, In Vitro Cellular & Developmental Biology - Animal.

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

N. Thierry-Mieg, S. Brouillet, P. Ray, 2019, Human reproduction.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

N. Thierry-Mieg, D. Grunwald, P. Jouk, 2014, American journal of human genetics.

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

J. Ravanat, P. Ray, C. Metzler-Guillemain, 2015, Molecular human reproduction.

13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.

S. Brouillet, P. Jouk, B. Poreau, 2015, European journal of medical genetics.

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

J. Clayton-Smith, P. Jouk, J. Thevenon, 2016, Genetics in Medicine.

Rationale for a vaccine using cellular-derived epitope presented by HIV isolates.

J. Chermann, C. le Contel, C. Coutton, 1999, Vaccine.

Fine Characterisation of a Recombination Hotspot at the DPY19L2 Locus and Resolution of the Paradoxical Excess of Duplications over Deletions in the General Population

N. Thierry-Mieg, P. Jouk, F. Abada, 2013, PLoS genetics.

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

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

F. Béna, R. Christensen, P. Jouk, 2017, Journal of Medical Genetics.

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

N. Thierry-Mieg, L. Pasquier, Flore Mietton, 2020, Human Genetics.

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

N. Thierry-Mieg, L. Pasquier, Flore Mietton, 2020, Human genetics.

Reproductive genetics MLPA and sequence analysis of DPY 19 L 2 reveals point mutations causing globozoospermia

P. Jouk, F. Abada, P. Ray, 2012 .

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

C. Wittwer, M. de Boer, D. Roos, 2012, Journal of Clinical Immunology.

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

M. Sabbaghian, P. Ray, M. Sanati, 2016, Human reproduction.

Reprogramming glioma cell cultures with retinoic acid: Additional arguments for reappraising the potential of retinoic acid in the context of personalized glioma therapy

D. Wion, A. Bouamrani, F. Berger, 2018 .

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

N. Thierry-Mieg, P. Ray, Zine-Eddine Kherraf, 2018, Human reproduction.

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

Y. Usson, P. Jouk, G. Michalowicz, 2012, Clinical chemistry and laboratory medicine.

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

N. Thierry-Mieg, P. Santulli, P. Ray, 2021, Clinical genetics.

Is cell-free DNA in spent embryo culture medium an alternative to embryo biopsy for preimplantation genetic testing? a systematic review.

S. Brouillet, C. Coutton, G. Martinez, 2020, Reproductive biomedicine online.

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

N. Thierry-Mieg, P. Ray, Y. Fichou, 2020, Journal of Medical Genetics.

Novel axonemal protein ZMYND12 is required for flagellum function and male fertility

N. Thierry-Mieg, P. Ray, J. Dupuy, 2023 .

Lack of CCDC 146 , a ubiquitous centriole and microtubule-associated protein , 2 leads to non-syndromic male infertility in human and mouse 3 4 5

N. Thierry-Mieg, S. Geimer, P. Ray, 2023 .

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

CFAP61 is required for sperm flagellum formation and male fertility in human and mouse.

P. Ray, Siyu Liu, Jintao Zhang, 2021, Development.

New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella

N. Thierry-Mieg, P. Ray, Zine-Eddine Kherraf, 2023, International journal of molecular sciences.

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

L. Bouneau, C. Rooryck, Angèle Tingaud-Sequeira, 2022, Journal of Medical Genetics.

PROK1 Level in the Follicular Microenvironment: A New Noninvasive Predictive Biomarker of Embryo Implantation.

S. Brouillet, N. Alfaidy, P. Gillois, 2016, The Journal of clinical endocrinology and metabolism.

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

N. Thierry-Mieg, P. Ray, Zine-Eddine Kherraf, 2021, Human Genetics.

BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

C. Rooryck, F. Faravelli, C. Coutton, 2015, Proceedings of the National Academy of Sciences.

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

N. Thierry-Mieg, B. Conne, P. Jouk, 2018, Nature Communications.

[Genetics of male infertility: the new players].

P. Ray, C. Coutton, C. Arnoult, 2012, Medecine sciences : M/S.

Corrigendum: 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.

S. Amselem, P. Ray, S. Savinov, 2018, Human molecular genetics.

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

N. Thierry-Mieg, B. Conne, P. Jouk, 2018, Nature Communications.

Cytochalasin D restores nuclear size acting on F-actin and IZUMO1 localization in low-quality spermatozoa

A. De Angelis, L. Berrino, K. Urbanek, 2023, International journal of biological sciences.

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

C. Wittwer, H. Hill, D. Roos, 2012, Journal of Clinical Immunology.

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

N. Thierry-Mieg, P. Ray, S. Savinov, 2016, Human molecular genetics.

Sun proteins and Dpy19l2 forming LINC-like links are critical for spermiogenesis

P. Ray, C. Coutton, C. Arnoult, 2016, Biology Open.

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

P. Ray, C. Coutton, C. Arnoult, 2013, Basic and Clinical Andrology.

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

P. Jouk, B. Poreau, C. Durand, 2013, Molecular Syndromology.

190‐kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly

P. Jouk, J. Rendu, C. Coutton, 2013, Clinical genetics.

Intellectual disability, oncogenes and tumour suppressor genes: the way forward?

C. Coutton, M. Bidart, 2012, Journal of Genetics.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

T. Bourgeron, R. Delorme, T. Rolland, 2017, NPJ Genomic Medicine.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

A. Afenjar, A. Verloes, C. Yardin, 2022, American Journal of Medical Genetics Part A.

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

N. Thierry-Mieg, P. Ray, J. Dupuy, 2023, bioRxiv.

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

N. Thierry-Mieg, Kuokuo Li, F. Tao, 2021, Human Genetics.

Whole-exome sequencing identi fi es mutations in FSIP 2 as a recurrent cause of multiple morphological abnormalities of the sperm fl agella

N. Thierry-Mieg, P. Ray, C. Coutton, 2018 .

Absence of CFAP 69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse

N. Thierry-Mieg, S. Brouillet, P. Ray, 2018 .

Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans

N. Thierry-Mieg, P. Ray, Caroline Cazin, 2023, iScience.

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

N. Thierry-Mieg, P. Ray, E. Bieth, 2023, Journal of genetics and genomics = Yi chuan xue bao.

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

P. Jouk, J. Rendu, J. Fauré, 2014, American journal of medical genetics. Part A.

Contents Vol. 7, 2016

M. Mussini, M. Poot, Siulan Vendramini-Pittoli, 2016, Molecular Syndromology.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

J. Clayton-Smith, P. Jouk, J. Thevenon, 2016, Genetics in Medicine.

Familial KCNQ2 mutation: a psychiatric perspective.

C. Coutton, F. Devillard, A. Maruani, 2023, Psychiatric genetics.

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

P. Jouk, S. Viville, F. Abada, 2011, American journal of human genetics.

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

P. Ray, C. Coutton, C. Arnoult, 2012, Development.

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

S. Geimer, P. Ray, N. Klena, 2023, bioRxiv.