V. Satre

D. Chauveau, J. Grünfeld, V. Satre, 2003, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies

A. Benachi, A. Luscan, G. Le Guyader, 2020, Journal of clinical medicine.

FISH and tips: a large scale analysis of automated versus manual scoring for sperm aneuploidy detection

P. Gillois, G. Martinez, L. Bujan, 2013, Basic and Clinical 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.

OCRL1 mutation analysis in French Lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling

N. Monnier, J. Lunardi, V. Satre, 2000, Human mutation.

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.

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.

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.

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.

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

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

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

R. Touraine, A. Afenjar, A. Toutain, 2019, Journal of Medical 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.

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

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

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.

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

P. Jouk, N. Monnier, J. Lunardi, 1999, American journal of 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.

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.

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.

J. Lunardi, G. Gacon, V. Satre, 2005, Human molecular genetics.

Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.

J. Lunardi, G. Gacon, V. Satre, 2003, Human molecular genetics.

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.

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 .

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

P. Chambon, L. Faivre, S. Jacquemont, 2014, Clinical genetics.

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.

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.

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.

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.

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.

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

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

Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome

N. Monnier, V. Satre, F. Devillard, 2004, Prenatal diagnosis.

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 .

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.

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.

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.

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

R. Salomon, J. Rendu, B. Ranchin, 2011, Human mutation.

Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry

P. Ray, C. Coutton, G. Martinez, 2023, International journal of molecular sciences.

Expanding MNS1 Heterotaxy Phenotype.

C. Thauvin-Robinet, A. Delahaye-Duriez, C. Coutton, 2024, American journal of medical genetics. Part A.