Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases.
Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental Disorders
Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
Assessing the contributions of childhood maltreatment subtypes and depression case-control status on telomere length reveals a specific role of physical neglect
Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Clinical benefits of eplerenone in patients with systolic heart failure and mild symptoms when initiated shortly after hospital discharge: analysis from the EMPHASIS-HF trial
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes
Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability
Phenotypic spectrum associated with <i><scp>PTCHD1</scp></i> deletions and truncating mutations includes intellectual disability and autism spectrum disorder
Incidence, Determinants, and Prognostic Significance of Hyperkalemia and Worsening Renal Function in Patients With Heart Failure Receiving the Mineralocorticoid Receptor Antagonist Eplerenone or Placebo in Addition to Optimal Medical Therapy
Chromium and Glucose Tolerance Factor
Common variant at 16p11.2 conferring risk of psychosis
Estimating the heritability of reporting stressful life events captured by common genetic variants