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Affiliations

Publications (23)

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Clinical delineation of SETBP1 haploinsufficiency disorder.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Severe Phenotype in Patients with Large Deletions of

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

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

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.

Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility.

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

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS).

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study.

ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

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

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