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 Neurogenetic and Muscular Disorders Research.
Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2–4 years with Rett syndrome
Rett Syndrome: The Emerging Landscape of Treatment Strategies
Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC study
Trofinetide for the treatment of Rett syndrome: Long-term safety and efficacy results of the 32-month, open-label LILAC-2 study
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside
Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)
<scp>Electroencephalographic</scp> Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders
Rett syndrome: The Natural History Study journey
Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey
Clinical Features and Disease Progression in Older Individuals with Rett Syndrome
MECP2 Variants in Males: More Common than Previously Appreciated
Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database
Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
A review of the Rett Syndrome Behaviour Questionnaire and its utilization in the assessment of symptoms associated with Rett syndrome
Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome
Comparison of evoked potentials across four related developmental encephalopathies
Distribution of hand function by age in individuals with Rett syndrome
Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder
Analysis of <scp>X‐inactivation</scp> status in a Rett syndrome natural history study cohort
Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome
Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
Multisite Study of Evoked Potentials in Rett Syndrome
Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods
Microbial community changes in a female rat model of Rett syndrome
Consensus guidelines on managing Rett syndrome across the lifespan