WebNov 23, 2015 · Mohammed Uddin, Cyrus Boelman, Ledia Brunga, Sylvia Lamoureux, Dimitri Stavropoulos, James Drake, Cecil Hahn, Cynthia Hawkins, Adam Shlien, Berge Minassian, Stephen Scherer Rationale: Syntaxin-binding protein 1 (STXBP1) mutations have been reported across a spectrum of neurodevelopmental disorders, including … WebAug 11, 2024 · The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be useful for future clinical trials. Condition or disease Angelman Syndrome Detailed Description:
Dr. Cyrus Boelman, Neurologist, Toronto, ON - Health Choices First
WebDr. Cyrus Boelman, working closely with collaborators, Drs. Jennifer Engle, Danielle Andrade and Cecil Hahn has launched a Canadian national registry for STXBP1. The project is surveying people living with STXBP1 disorders across Canada. The goal is to better understand this rare disorder, by way of characterizing the spectrum of symptoms ... WebMar 5, 2024 · Epilepsy will affect nearly 3% of people at some point during their lifetime. Previous copy number variants (CNVs) studies of epilepsy have used array-based technology and were restricted to the detection of large or exonic events. In contrast, whole-genome sequencing (WGS) has the potential to more comprehensively profile CNVs but … great minds scholarship
Diagnostic Yield and Treatment Impact of Targeted Exome
WebMay 16, 2024 · Cyrus Boelman, MD, FRCPC Department of Pediatrics, Division of Neurology, BC Children’s Hospital, Vancouver, British Columbia, Canada View all articles by this author WebCyrus Boelman Assistant Professor BC Children's Hospital Research Institute, Faculty of Medicine, University of British Columbia Vancouver, Canada Cyrus Boelman Overview … WebMay 17, 2024 · Background To examine the impact on diagnosis, treatment and cost with early use of targeted whole-exome sequencing (WES) in early-onset epilepsy. Methods WES was performed on 50 patients with early-onset epilepsy (≤ 5 years) of unknown cause. Patients were classified as retrospective (epilepsy diagnosis > 6 months) or prospective … great minds richmond va location