Area of research
Genetics · Immunology
Research interest
Research interests include Genetic Syndromes and Imprinting, Virus-based gene therapy research, Immunotherapy and Immune Responses, and Cystic Fibrosis Research Advances.
Recommendations for real-world evidence of efficacy and safety of GLP-1 agonists in Prader-Willi syndrome: Report of a workshop held by the Foundation for Prader-Willi Research and International Prader Willi Syndrome Organisation.
Emergency Department Care for Patients With Prader-Willi Syndrome: A 2019-2021 National Emergency Department Sample Analysis.
Patient advocacy group perspectives on treatment priorities and clinical trials for the rare neurodevelopmental condition, Prader-Willi syndrome.
Study design with responsible return of results for a fully remote genome sequencing study in individuals with Prader-Willi syndrome
Validation of the Food Safe Zone questionnaire for families of individuals with Prader-Willi syndrome.
Recommendations for real‐world evidence of efficacy and safety of <scp>GLP</scp> ‐1 agonists in Prader‐Willi syndrome: Report of a workshop held by the Foundation for Prader‐Willi Research and International Prader Willi Syndrome Organisation
Inpatient Hospitalizations for COVID-19 Among Patients With Prader-Willi Syndrome: A National Inpatient Sample Analysis.
Pharmacogenomic testing for Prader-Willi syndrome: a mixed methods analysis of caregiver experiences and utilization.
Inpatient hospitalisations for patients with Prader-Willi syndrome: a 2019-2021 National Inpatient Sample analysis.
Life Satisfaction, Global Health and Mood in Prader-Willi Syndrome: Use of PROMIS and Glasgow Depression Scales.
Neuromodulation for the treatment of Prader-Willi syndrome - A systematic review.
Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study.
Feeding tube use and complications in Prader-Willi syndrome: Data from the Global Prader-Willi Syndrome Registry.
Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization.
The motivations and methods behind sharing a pediatric Prader-Willi syndrome diagnosis.
Analysis of Hyperphagia Questionnaire for Clinical Trials (HQ-CT) scores in typically developing individuals and those with Prader-Willi syndrome.
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
The Prader-Willi Syndrome Anxiousness and Distress Behaviors Questionnaire: Development and Psychometric Validation.
Caregiver-based perception of disease burden in Schaaf-Yang syndrome.
Age of diagnosis for children with chromosome 15q syndromes.
Neuropsychiatric features of Prader-Willi syndrome.
Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader-Willi Syndrome.
A truncating mutation of <i>Magel2</i> in the rat modelled for the study of Schaaf-Yang and Prader-Willi syndromes alters select behavioral and physiological outcomes
Neural stem cell delivery of an oncolytic adenovirus in newly diagnosed malignant glioma: a first-in-human, phase 1, dose-escalation trial.
Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium
Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium.
Characteristics and relationship between hyperphagia, anxiety, behavioral challenges and caregiver burden in Prader-Willi syndrome
Characteristics and relationship between hyperphagia, anxiety, behavioral challenges and caregiver burden in Prader-Willi syndrome.
Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry.
Measuring Meaningful Benefit-Risk Tradeoffs to Promote Patient-Focused Drug Development in Prader-Willi Syndrome: A Discrete-Choice Experiment.