Area of research
Molecular Biology · Genetics
Research interest
Research focused on Duchenne muscular dystrophy and Genetics, with related work in Muscular dystrophy, Exon skipping, Myogenesis. Notable publications include 'Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study', 'Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy', and 'Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy'.
Patient Demographics and Clinical Characteristics of Adults With Spinal Muscular Atrophy (SMA): An Assessment of Patients Receiving Risdiplam Treatment and Untreated Patients With SMA (P2-11.004)
Pan-cancer atlas of somatic core and linker histone mutations
Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease
Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease
Major Adverse Dystrophinopathy Events (MADE) score as marker of cumulative morbidity and risk for mortality in boys with Duchenne muscular dystrophy
Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study
Water T2 could predict functional decline in patients with dysferlinopathy
Major Adverse Dystrophinopathy Event Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys with Duchenne Muscular Dystrophy
TGF-β–driven muscle degeneration and failed regeneration underlie disease onset in a DMD mouse model
Genetic modifiers of respiratory function in Duchenne muscular dystrophy
Disease-specific and glucocorticoid-responsive serum biomarkers for Duchenne Muscular Dystrophy
Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy
Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy
Proteomic analysis of Medulloblastoma reveals functional biology with translational potential
“Of Mice and Measures”: A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic
DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY
Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
<i>DMD</i> genotypes and loss of ambulation in the CINRG Duchenne Natural History Study
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Genetic characterization of physical activity behaviours in university students enrolled in kinesiology degree programs
Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model
Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study
Feasibility and Reproducibility of Echocardiographic Measures in Children with Muscular Dystrophies
Protective effect of HLA-DQB1 alleles against alloimmunization in patients with sickle cell disease
Alterations in Osteopontin Modify Muscle Size in Females in Both Humans and Mice