Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Fetal and Pediatric Neurological Disorders.
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
The different clinical facets of SYN1-related neurodevelopmental disorders
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development
Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease
Damaging de novo missense variants in<i>EEF1A2</i>lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy
De novo heterozygous missense and loss‐of‐function variants in <i>CDC42BPB</i> are associated with a neurodevelopmental phenotype
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy