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Affiliations

Publications (20)

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder.

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Hyperammonemic encephalopathy in a patient with fibrolamellar hepatocellular carcinoma: case report and literature review.

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance.

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria.

Neonatal Diagnosis of Alveolar Capillary Dysplasia via Rapid Genomic Sequencing: A New Gold Standard?

Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Kabuki syndrome: international consensus diagnostic criteria.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Impact of integrated translational research on clinical exome sequencing.

Pediatric manifestations of Lynch Syndrome: A single center experience.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Réseau de co-auteurs