Area of research
Genetics · Pulmonary and Respiratory Medicine
Research interest
Research interests include Connective tissue disorders research, Aortic Disease and Treatment Approaches, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Connective tissue presentation in two families expands the phenotypic spectrum of <i>PYROXD1</i> disorders
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Missense variants in <i>TAF1</i> and developmental phenotypes: Challenges of determining pathogenicity
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations