Area of research
Molecular Biology · Genetics
Research interest
Research interests include Protein Tyrosine Phosphatases, Galectins and Cancer Biology, Genomics and Rare Diseases, and RNA modifications and cancer.
<i>CDK13</i> ‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Brain malformations and seizures by impaired chaperonin function of TRiC
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Skipping of Exon 20 in <i>EP300</i> : A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
The seventh international <scp>RASopathies</scp> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
The <i>MAP3K7</i> gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein–Protein Interactions
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature
Expanding the clinical phenotype of the ultra‐rare <scp>Skraban‐Deardorff</scp> syndrome: Two novel individuals with <scp><i>WDR26</i></scp> loss‐of‐function variants and a literature review
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy