Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research focused on Genetics and Microcephaly, with related work in Gene, Lissencephaly, Xeroderma pigmentosum. Notable publications include 'Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability', 'De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome', and 'Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia'.
International consensus recommendations on the diagnostic work-up for malformations of cortical development
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
Tubulin genes and malformations of cortical development
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity
<i>EPG5</i> -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness
TUBULINOPATHIES IN MALFORMATIONS OF THE CEREBRAL CORTEX
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome