Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Congenital heart defects research.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications
The contribution of X-linked coding variation to severe developmental disorders
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>
Evidence for 28 genetic disorders discovered by combining healthcare and research data
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Clinical findings of 21 previously unreported probands with <i>HNRNPU</i>‐related syndrome and comprehensive literature review
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome