Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, and Neurogenetic and Muscular Disorders Research.
Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Best practices for the interpretation and reporting of clinical whole genome sequencing
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods
Reanalysis of Clinical Exome Sequencing Data
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Use of Exome Sequencing for Infants in Intensive Care Units
Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a