Area of research
Physiology · Rheumatology
Research interest
Research interests include Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Carbohydrate Chemistry and Synthesis, and Genomics and Rare Diseases.
Prader-Willi and Angelman Syndromes: Mechanisms and Management.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome‐wide sequencing
The seventh international <scp>RASopathies</scp> symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Clinical outcomes after 4.5 years of eliglustat therapy for <scp>Gaucher</scp> disease type 1: Phase 3 <scp>ENGAGE</scp> trial final results
Costello syndrome: Clinical phenotype, genotype, and management guidelines
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial
Phenotypic characteristics of the p.Asn215Ser (p.N215S) <i>G<scp>LA</scp></i> mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
Outcomes after 18 months of eliglustat therapy in treatment‐naïve adults with <scp>G</scp>aucher disease type 1: The phase 3 ENGAGE trial
Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the <i>AARS2</i> gene
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in<i>PRPH2</i>and Protein Haplotypes in<i>trans</i>as Modifiers
Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1
Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial
Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)
Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (<i>PRPH2</i>) Causing Autosomal Dominant Retinal Dystrophies
Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines