Area of research
Genetics · Clinical Biochemistry
Research interest
Research interests include Metabolism and Genetic Disorders, Genomics and Rare Diseases, Lysosomal Storage Disorders Research, and Neurogenetic and Muscular Disorders Research.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
Immunoadsorption is equally effective as plasma exchange in paediatric neuroimmunological disorders - A retrospective multicentre study
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Gain-of-function and loss-of-function variants in <i>GRIA3</i> lead to distinct neurodevelopmental phenotypes
Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in <i>VCP</i>
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Germline AGO2 mutations impair RNA interference and human neurological development
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
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Lessons learned from additional research analyses of unsolved clinical exome cases
Management Strategies for CLN2 Disease
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Phenotypic and molecular insights into CASK-related disorders in males