Area of research
Genetics · Pediatrics, Perinatology and Child Health
Research interest
Research interests include Biology, Genetics, Exome sequencing, Medicine, Phenotype, and Haploinsufficiency.
P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
Causal Genetic Variants in Stillbirth
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia
Refining the phenotype associated with <i>GNB1</i> mutations: Clinical data on 18 newly identified patients and review of the literature
Loss‐of‐function variants in <i>NFIA</i> provide further support that <i>NFIA</i> is a critical gene in 1p32‐p31 deletion syndrome: A four patient series
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis