Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Biology, Medicine, Pathology, Cancer research, Phenotype, and DNA methylation.
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas
<i>CIC/ATXN1</i>‐rearranged tumors in the central nervous system are mainly represented by sarcomas: A comprehensive clinicopathological and epigenetic series
A comprehensive histomolecular characterization of meningioangiomatosis: Further evidence for a precursor neoplastic lesion
PATH-37. A NEW SUBTYPE OF DIFFUSE MIDLINE GLIOMA, H3 K27 AND BRAF/FGFR1 CO-ALTERED, EXHIBITS SPECIFIC BIOLOGICAL CHARACTERISTICS AND NEW THERAPEUTIC VULNERABILITIES
A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation
A comprehensive analysis of infantile central nervous system tumors to improve distinctive criteria for infant‐type hemispheric glioma versus desmoplastic infantile ganglioglioma/astrocytoma
PLAG1 fusions extend the spectrum of PLAG(L)-altered CNS tumors
A sellar presentation of a WNT-activated embryonal tumor: further evidence of an ectopic medulloblastoma
A partial form of inherited human USP18 deficiency underlies infection and inflammation
The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile
The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases
Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions
Myocardial involvement in children with post-COVID multisystem inflammatory syndrome: a cardiovascular magnetic resonance based multicenter international study—the CARDOVID registry
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Fast‐track virtual reality for cardiac imaging in congenital heart disease
Pediatric brain arteriovenous malformation recurrence: a cohort study, systematic review and meta-analysis
Deciphering the genetic and epigenetic landscape of pediatric bithalamic tumors
Neuroimaging manifestations in children with SARS-CoV-2 infection: a multinational, multicentre collaborative study
Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation
The IMAGEN study: a decade of imaging genetics in adolescents
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
DIPG-58. HISTONE H3 WILD-TYPE DIPG/DMG OVEREXPRESSING EZHIP EXTEND THE SPECTRUM OF DIFFUSE MIDLINE GLIOMAS WITH PRC2 INHIBITION BEYOND H3-K27M MUTATION
EANO–EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
An integrative radiological, histopathological and molecular analysis of pediatric pontine histone-wildtype glioma with MYCN amplification (HGG-MYCN)
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies
LGG-04. CLINICO-HISTO-MOLECULAR LANDSCAPE OF EIGHTY-TWO PEDIATRIC AND YOUNG ADULT DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Diagnostics of pediatric supratentorial RELA ependymomas: integration of information from histopathology, genetics, DNA methylation and imaging