Area of research
Genetics · Molecular Biology
Research interest
Research interests include Congenital heart defects research, Genomic variations and chromosomal abnormalities, Autism Spectrum Disorder Research, and Genetics and Neurodevelopmental Disorders.
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Genomic architecture of autism from comprehensive whole-genome sequence annotation
Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome
Barriers to genetic testing in clinical psychiatry and ways to overcome them: from clinicians’ attitudes to sociocultural differences between patients across the globe
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
The Language Profile of Preschool Children With 22q11.2 Deletion Syndrome and the Relationship With Speech Intelligibility
A normative chart for cognitive development in a genetically selected population
Narrative comprehension and production abilities of children with 22q11.2 deletion syndrome
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
A framework for an evidence-based gene list relevant to autism spectrum disorder
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
The role of rare compound heterozygous events in autism spectrum disorder
A large data resource of genomic copy number variation across neurodevelopmental disorders
Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia
Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Autism genetics: opportunities and challenges for clinical translation
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
PEMapper and PECaller provide a simplified approach to whole-genome sequencing
Early interventions in risk groups for schizophrenia: what are we waiting for?
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome
22q11.2 deletion syndrome
Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome