Area of research
Molecular Biology · Cardiology and Cardiovascular Medicine
Research interest
Research interests include Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, and Genetic Neurodegenerative Diseases.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Dysfunctional sarcomere contractility contributes to muscle weakness in <i>ACTA1</i>‐related nemaline myopathy (NEM3)
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Mutation‐specific effects on thin filament length in thin filament myopathy
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there
Variants in <i>SLC18A3</i> , vesicular acetylcholine transporter, cause congenital myasthenic syndrome
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy
Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
Expanding the phenotype of GMPPB mutations
Muscle weakness in<i>TPM3</i>-myopathy is due to reduced Ca<sup>2+</sup>-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of α-Dystroglycan in Cells and Tissues
Approach to the diagnosis of congenital myopathies
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Genotype-phenotype correlations in recessive RYR1-related myopathies
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy
Recent advances in nemaline myopathy
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations
Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge
Consensus Statement on Standard of Care for Congenital Myopathies
Mapping domains and mutations on the skeletal muscle ryanodine receptor channel