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Affiliations

Publications (35)

Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.

PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.

Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Abnormal Cellular Phenotypes Induced by Three

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.

Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75.

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells.

Morphological and genetic causes of fetal cardiomyopathies.

Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.

Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping.

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.

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

Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture.

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach.

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

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

Evidence of mosaicism in SPAST variant carriers in four French families.

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

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

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.

Systematic analysis of SCN5A variants associated with inherited cardiac diseases.

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in

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