Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Congenital heart defects research, and Genetics and Neurodevelopmental Disorders.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
A cross-disorder dosage sensitivity map of the human genome
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
Author Correction: A structural variation reference for medical and population genetics
A structural variation reference for medical and population genetics
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders