Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, and Autism Spectrum Disorder Research.
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
The different clinical facets of SYN1-related neurodevelopmental disorders
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments