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 Protein Tyrosine Phosphatases.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
ARID1B-related disorder in 87 adults: Natural history and self-sustainability
The seventh international <scp>RASopathies</scp> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
Reanalysis of Clinical Exome Sequencing Data
Recurrent arginine substitutions in the <i>ACTG2</i> gene are the primary driver of disease burden and severity in visceral myopathy
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
Genetic counselors on the frontline of precision health
Use of Exome Sequencing for Infants in Intensive Care Units
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management