Area of research
Genetics · Psychiatry and Mental health
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Neuroscience and Neuropharmacology Research, and Autism Spectrum Disorder Research.
Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2–4 years with Rett syndrome
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
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
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
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
Long‐term treatment with ganaxolone for seizures associated with cyclin‐dependent kinase‐like 5 deficiency disorder: Two‐year open‐label extension follow‐up
Comparison of evoked potentials across four related developmental encephalopathies
Distribution of hand function by age in individuals with Rett syndrome
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
<i>ATP6V0C</i> variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
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
Consensus guidelines on managing Rett syndrome across the lifespan
Multisystem comorbidities in classic Rett syndrome: a scoping review
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
Phenotypic features in <scp><i>MECP2</i></scp> duplication syndrome: Effects of age