Claire Beneteau

Madeleine Joubert 8 collaborations

Charles Coutton 7 collaborations

Claudine Le Vaillant 5 collaborations

Bertrand Isidor 5 collaborations

Mathilde Nizon 5 collaborations

Laurence Faivre 5 collaborations

Florence Petit 4 collaborations

Yline Capri 4 collaborations

Boris Keren 4 collaborations

Jill A Rosenfeld 4 collaborations

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Matthew A Tedder 1 collaboration

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Sylvie Babajko 1 collaboration

Tiphaine Barjat 1 collaboration

Naima Brennetot 1 collaboration

Ester Garne 1 collaboration

Georges Haddad 1 collaboration

Mounia Hocine 1 collaboration

Isabelle Lacroix 1 collaboration

Klervi Leuraud 1 collaboration

Michel Mench 1 collaboration

Joan Morris 1 collaboration

Arnaud Sartelet 1 collaboration

Christophe Bonaldi 1 collaboration

Mélina Le Barbier 1 collaboration

Bertrand Gagnière 1 collaboration

Philippe Pépin 1 collaboration

Ronan Ollivier 1 collaboration

Monique Bitoun 1 collaboration

Lisa King 1 collaboration

Andrea Guajardo-Villar 1 collaboration

Eugenia Gomes 1 collaboration

Jean-Claude Desenclos 1 collaboration

Nolwenn Regnault 1 collaboration

Affiliations

Publications (31)

Exome sequencing identifies the first genetic determinants of sirenomelia in humans.

A Gardos channelopathy associated with nonimmune hydrops and fetal loss.

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Overlapping cortical malformations in patients with pathogenic variants in

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.

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

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

Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

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

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

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

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

NOTCH2 related disorders: Description and review of the fetal presentation.

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Acute fetal leukemia: When should it be suspected? What assessment should be performed? A case series and review of literature.

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Comparison of the ABC and ACMG systems for variant classification.

A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.

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