Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Glycosylation and Glycoproteins Research, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, and Genomics and Rare Diseases.
Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape.
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported <i>UQCRC2</i>-Associated Phenotype.
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.
Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG.
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation.
Repurposing the HMG-CoA Reductase Inhibitor Atorvastatin for SRD5A3-CDG
The Therapeutic Future for Congenital Disorders of Glycosylation.
PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Normal transferrin glycosylation does not rule out severe ALG1 deficiency.
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants.
Tracer metabolomics reveals the role of aldose reductase in glycosylation
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
Antidepressants that increase mitochondrial energetics may elevate risk of treatment-emergent mania.
Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).
Guidelines in the JIMD: Evidence-based practice for inherited metabolic disease.
Antidepressants that increase mitochondrial energetics may elevate risk of treatment-emergent mania
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Early role for a Na <sup>+</sup> ,K <sup>+</sup> -ATPase ( <i>ATP1A3</i> ) in brain development
Sorbitol Is a Severity Biomarker for <scp>PMM2‐CDG</scp> with Therapeutic Implications
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice.