Area of research
Genetics · Molecular Biology
Research interest
Research focused on Genetics and Intellectual disability, with related work in Phenotype, Epilepsy, Haploinsufficiency. Notable publications include 'GRIN2A -related disorders: genotype and functional consequence predict phenotype', 'The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant', and 'Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP'.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Genotype–phenotype correlation at codon 1740 of <scp><i>SETD2</i></scp>
<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
<i>NBEA</i>: Developmental disease gene with early generalized epilepsy phenotypes
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
Central 22q11.2 deletions