Author

Marie‐Claire Vincent

Observed names: M C Vincent, M. C. Vincent, M.-C. Vincent, M.C. VINCENT, M.C. Vincent, MARIE‐CLAIRE VINCENT, MC Vincent, Marie-Claire Vincent, Marie-claire Vincent, VINCENT, Marie-Claire, Vincent, Marie-Claire

Institutions: Centre National de la Recherche Scientifique, Inserm, Université de Montpellier, Physiologie et Médecine Expérimentale du Coeur et des Muscles, Centre Hospitalier Universitaire de Montpellier, Institute for Neurosciences of Montpellier, Institut Universitaire de Recherche Clinique, Philips (France)

Observed institutions: Centre National de la Recherche Scientifique, Université Toulouse III - Paul Sabatier, Inserm, Université de Montpellier, Centre Hospitalier Universitaire de Toulouse, Physiologie et Médecine Expérimentale du Coeur et des Muscles, Centre Hospitalier Universitaire de Montpellier, Institut de Génétique Moléculaire de Montpellier, Institute for Neurosciences of Montpellier, Hôpital Purpan, Institut Universitaire de Recherche Clinique, Hôpitaux Universitaires de Strasbourg, Hôpital Arnaud de Villeneuve, Hôpital Civil, Strasbourg, Philips (France), Nutrition-Génétique et Exposition aux Risques Environnementaux, Université de Strasbourg, Université de Lorraine

OpenAlex ID: A5108663459

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

2010 · Céline Cluzeau, Smail Hadj-Rabia, et al. · Human Mutation · 313

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Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome

2009 · V. Laugel, C. Dalloz, et al. · Human Mutation · 232

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Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

2010 · Jean Muller, C. Stoetzel, et al. · Human Genetics · 134

Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25‐Year Experience

2002 · MARIE‐CLAIRE VINCENT, MYRIAM DAUDIN, et al. · Journal of Andrology · 134

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

2012 · Claire Redin, Stéphanie Le Gras, et al. · Journal of Medical Genetics · 116

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Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

2006 · N. Chassaing, S. Bourthoumieu, et al. · Human Mutation · 102

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Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects

2003 · Marie-Claire Vincent, Anne-Laure Pujo, et al. · European Journal of Human Genetics · 101

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

2010 · D Germanaud, M Rossi, et al. · Clinical Genetics · 51

22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.

1999 · M C Vincent, F Heitz, et al. · PubMed · 51

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

2010 · Elise Schaefer, Myriam Durand, et al. · European Journal of Medical Genetics · 45

Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases

2004 · Cédric Le Caignec, Philippe De Mas, et al. · American Journal of Medical Genetics Part A · 43

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

2022 · Mehdi Benkirane, Dylan Da Cunha, et al. · Brain · 42

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X‐linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic‐dental phenotypic findings

2010 · F Clauss, N Chassaing, et al. · Clinical Genetics · 39

Dissecting the Structure and Mechanism of a Complex Duplication-Triplication Rearrangement in theDMDGene

2013 · Aliya Ishmukhametova, Jian-Min Chen, et al. · Human Mutation · 33

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia

2004 · Marie-Claire Vincent, Raffaella Gallai, et al. · American Journal of Ophthalmology · 32

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

2012 · Aliya Ishmukhametova, Philippe Khau Van Kien, et al. · European Journal of Human Genetics · 29

Monozygotic twins concordant for blood karyotype, but phenotypically discordant: A case of “mosaic chimerism”

2005 · Sylvie Bourthoumieu, Catherine Yardin, et al. · American Journal of Medical Genetics Part A · 28

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype

2004 · N. Chassaing, P. De Mas, et al. · American Journal of Medical Genetics Part A · 25

Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

2020 · Laure Cayrefourcq, Marie-Claire Vincent, et al. · Scientific Reports · 23

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Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity.

1998 · M C Vincent, C Guiraud-Chaumeil, et al. · Journal of Medical Genetics · 23

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Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation

2016 · C. Guissart, C. Dubucs, et al. · Journal of Cystic Fibrosis · 22

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Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control

2014 · Claire Guissart, Vanessa Debant, et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 20

A case of trisomy 12 mosaicism with pituitary malformation and polycystic ovary syndrome.

2006 · S Boulard, G Diene, et al. · PubMed · 16

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

2008 · Martine Doco‐Fenzy, Muriel Holder‐Espinasse, et al. · American Journal of Medical Genetics Part A · 14

A Mutation in the MTM1 Gene Invalidates a Previous Suggestion of Nonallelic Heterogeneity in X-Linked Myotubular Myopathy

1997 · C. GUIRAUD-CHAUMEIL, M.C. VINCENT, et al. · The American Journal of Human Genetics · 13

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Works count: 47

Citation count: 1,737

H-index: 21

I10-index: 27