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 modifications and cancer.
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder
A novel spliceosomopathy caused by de novo SF3B3 variants
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
The clinical and genetic spectrum of autosomal-recessive <i>TOR1A</i>-related disorders
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
Genotype–phenotype correlation at codon 1740 of <scp><i>SETD2</i></scp>
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
Expansion and further delineation of the <i>SETD5</i> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium