Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Family and Disability Support Research, and Fungal and yeast genetics research.
Using the linear references from the pangenome to discover missing autism variants
Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Modeling antisense oligonucleotide therapy in <i>MECP2</i> duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome
MECP2 Variants in Males: More Common than Previously Appreciated
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
Distribution of hand function by age in individuals with Rett syndrome
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism
Consensus guidelines on managing Rett syndrome across the lifespan
Multisystem comorbidities in classic Rett syndrome: a scoping review
Non-full-length Water-Soluble CXCR4QTY and CCR5QTY Chemokine Receptors: Implication for Overlooked Truncated but Functional Membrane Receptors
Excessive Formation and Stabilization of Dendritic Spine Clusters in the <i>MECP2</i>-Duplication Syndrome Mouse Model of Autism
Characterizing the phenotypic effect of Xq28 duplication size in <i>MECP2</i> duplication syndrome
The array of clinical phenotypes of males with mutations in <i>Methyl‐CpG binding protein 2</i>
QTY code enables design of detergent-free chemokine receptors that retain ligand-binding activities
Improving Treatment Trial Outcomes for Rett Syndrome
Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of<i>MECP2</i>Duplication Syndrome
Brief Report: MECP2 Mutations in People Without Rett Syndrome