Dimitri J. Stavropoulos
A5016477685- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- Cancer Genomics and Diagnostics
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Fetal and Pediatric Neurological Disorders
- Genetic factors in colorectal cancer
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Biomedical Text Mining and Ontologies
- DNA Repair Mechanisms
- BRCA gene mutations in cancer
- Genetic and Kidney Cyst Diseases
- Genetic Associations and Epidemiology
- RNA regulation and disease
- Cerebral Palsy and Movement Disorders
- Congenital Ear and Nasal Anomalies
- Ethics in Clinical Research
- Renal and related cancers
- DNA and Nucleic Acid Chemistry
- Chromosomal and Genetic Variations
Hospital for Sick Children
2015-2024
SickKids Foundation
2015-2024
University of Toronto
2014-2024
University College London
2013-2024
Great Ormond Street Hospital
2013-2024
Institute for Clinical Evaluative Sciences
2022
Children's Hospital of Eastern Ontario
2022
University of Ottawa
2022
Somerville Hospital
2022
Washington Center
2022
PurposeGenetic testing is an integral diagnostic component of pediatric medicine. Standard care often a time-consuming stepwise approach involving chromosomal microarray analysis and targeted gene sequencing panels, which can be costly inconclusive. Whole-genome (WGS) provides comprehensive platform that has the potential to streamline genetic assessments, but there are limited comparative data guide its clinical use.MethodsWe prospectively recruited 103 patients from non-genetic...
The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study.To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogeneous group children ASD determine the diagnostic yield these sample typical developmental pediatric clinic.The consisted 258 consecutively ascertained unrelated who underwent detailed assessments define morphology scores based on presence major congenital...
Abstract The standard of care for first-tier clinical investigation the aetiology congenital malformations and neurodevelopmental disorders is chromosome microarray analysis (CMA) copy-number variations (CNVs), often followed by gene(s)-specific sequencing searching smaller insertion–deletions (indels) single-nucleotide variant (SNV) mutations. Whole-genome (WGS) has potential to capture all classes genetic variation in one experiment; however, diagnostic yield mutation detection WGS...
We have developed PhenoTips: open source software for collecting and analyzing phenotypic information patients with genetic disorders. Our combines an easy-to-use interface, compatible any device that runs a Web browser, standardized database back end. The PhenoTips' user interface closely mirrors clinician workflows so as to facilitate the recording of observations made during patient encounter. Collected data include demographics, medical history, family physical laboratory measurements,...
Abstract Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is overgrowth/intellectual disability caused by mutations in a histone methyltransferase, NSD1 . As layered modifications are often interdependent, we propose that pathogenic have genome-wide impact on most stable mark, DNA methylation (DNAm). By interrogating DNAm SS patients, identify genome-wide, highly significant +/− -specific signature differentiates from controls, benign...
Abstract Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted identify etiology among NDDs, but this is the first genome-wide CNV analysis autism spectrum disorder (ASD), attention deficit hyperactivity (ADHD), schizophrenia (SCZ), obsessive-compulsive (OCD) at once. Using microarray (Affymetrix CytoScan HD), we genotyped 2,691 subjects diagnosed with an NDD (204 SCZ,...
Rare copy number variants (CNVs) disrupting ASTN2 or both and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, its paralog ASTN1, key roles glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 ASTN1 (1q25.2) for exonic CNVs clinical microarray data from...
Abstract Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age onset, frequently accompanied co-morbidities. The cause CP has historically been attributed to environmental stressors resulting in brain damage. While genetic risk factors also implicated, guidelines for diagnostic assessment do not recommend routine testing. Given numerous reports aetiologic copy number variations (CNVs) other...
The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use chromosomal microarray analysis (CMA) prenatal diagnosis. This replaces 2011 Society Obstetricians Gynaecologists Canada (SOGC)-Canadian College Medical Geneticists (CCMG) Joint Technical Update.A multidisciplinary group consisting specialists was assembled review...
<h3>Objective:</h3> To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada to determine which radiologic, genetic factors functional outcomes for patients with HSP. <h3>Methods:</h3> We conducted a multicenter observational study who met clinical criteria diagnosis HSP provinces Alberta, Ontario, Quebec from 2012 2015. Characteristics participants were analyzed using descriptive statistics. The main outcome measure subset cohort (n =...
Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little known about the role CNV in adults with epilepsy and intellectual disability.To evaluate prevalence pathogenic CNVs identify possible candidate genes patients disability.In this cross-sectional study, genome-wide microarray was used to a cohort 143 unexplained childhood-onset disability who were recruited from Toronto Western Hospital outpatient clinic January 1, 2012, through December 31, 2014. The...
The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression survival. Like other genes encoding members of the CHD family, pathogenic mutations are expected be implicated human disease. In fact, there is emerging evidence suggesting might contribute broad spectrum...
The purpose of the current study was to assess penetrance NRXN1 deletions.We compared prevalence and genomic extent deletions identified among 19,263 clinically referred cases that 15,264 controls. burden additional relevant copy-number variations (CNVs) used as a proxy estimate relative 41 (0.21%) previously unreported exonic ascertained for developmental delay/intellectual disability were significantly greater than in controls (odds ratio (OR) = 8.14; 95% confidence interval (CI):...
PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side the body affected. Our earlier study unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) 9.6% participants. Here, we examined prevalence types CNVs specifically hemiplegic CP.MethodsWe genotyped 97 unrelated probands their parents. We compared to those 10,851 population controls, order identify (<0.1% frequency) that might be CP. also sequenced...
Chromosomal microarray analysis to assess copy-number variation has become a first-tier genetic diagnostic test for individuals with unexplained neurodevelopmental disorders or multiple congenital anomalies. More than 100 cytogenetic laboratories worldwide use the new ultra-high resolution Affymetrix CytoScan-HD array genotype hundreds of thousands samples per year. Our aim was develop resource from population sample that would enable more accurate interpretation clinical genetics data on...
Duplications of chromosome region 15q11-q13 with the maternal imprint are associated a wide spectrum neuropsychiatric disorders, including autism developmental delay, learning difficulties, schizophrenia, and seizures. These observations suggest there is dosage-sensitive imprinted gene or genes within this that explains increased risk for phenotypes. We present female patient delay in whom we identified maternally inherited 129-Kb duplication 15q11.2 encompassing only UBE3A gene. Expression...