Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, and RNA regulation and disease.
The Two Faces of Pediatric <scp>SCA2</scp>
<i>TRIM71</i> mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Epilepsy as a Novel Phenotype of BPTF-Related Disorders
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Gain-of-function and loss-of-function variants in <i>GRIA3</i> lead to distinct neurodevelopmental phenotypes
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
<i>SEMA6B</i> variants cause intellectual disability and alter dendritic spine density and axon guidance
Additional file 2 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity
Rare deleterious <i>de novo</i> missense variants in <i>Rnf2/Ring2</i> are associated with a neurodevelopmental disorder with unique clinical features
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability
Phenotypic expansion of the <scp><i>BPTF</i></scp>‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
De novo variants in <scp><i>TCF7L2</i></scp> are associated with a syndromic neurodevelopmental disorder
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function