A5068032266- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Retinal Development and Disorders
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Mental Health Research Topics
- Gut microbiota and health
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Eating Disorders and Behaviors
- RNA and protein synthesis mechanisms
- dental development and anomalies
- Signaling Pathways in Disease
- Cleft Lip and Palate Research
- Congenital gastrointestinal and neural anomalies
- Parvovirus B19 Infection Studies
- Protein Kinase Regulation and GTPase Signaling
- Congenital Ear and Nasal Anomalies
- Cardiac electrophysiology and arrhythmias
- Congenital heart defects research
- Cardiomyopathy and Myosin Studies
- Craniofacial Disorders and Treatments
University of Toronto
2012-2023
Trillium Health Centre
2017-2023
SickKids Foundation
2017
Hospital for Sick Children
2014-2017
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...
Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1 , SHANK2 SHANK3 PTCHD1 . Deletions been reported in however there has little information available regarding the clinical presentation these individuals. Herein we present 23 individuals deletions or truncating mutations detailed phenotypic descriptions. The results suggest that disruption coding region may subtle dysmorphic...
The human gastrointestinal (GI) tract houses an abundance of microorganisms which make up environment known as the gut microbiome. Its composition is affected by a variety factors, including method in individual was born, antibiotic use, diet, and environmental exposures. Gut microbes engage bidirectional communication with host through gut-brain axis, connects central enteric nervous systems neural, hormonal, immunological signalling pathways. Therefore, various housed GI can have effect on...
Craniosynostosis is a clinically and genetically heterogeneous condition. Knowledge of the specific genetic diagnosis in patients presenting with this condition important for surgical medical management. The most common single gene causes syndromic craniosynostosis are mutations FGFR1 , FGFR2 FGFR3 TWIST1 EFNB1 . Recently, new cause was published, together phenotype data that highlight clinical importance making molecular diagnosis. Phenotypic features “ ERF ‐related craniosynostosis”...
JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial features. encodes transcriptional repressor protein regulates the activity of various histone methyltransferase complexes. However, molecular etiology not fully understood, JARID2-neurodevelopmental syndrome may vary in its typical clinical...
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, genetic causes are heterogeneous, include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, calcium‐handling proteins. We report three severely affected males, in a four‐generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly marked biventricular fibrosis were noticeable histopathological findings. The...
We report on a girl diagnosed prenatally with agenesis of the corpus callosum (ACC) fetal ultrasound and MRI. On postnatal follow‐up she was noted to have developmental delay, facial dysmorphism, autism spectrum disorder, posterior polymorphous corneal dystrophy (PPD). Array‐comparative genomic hybridization analysis (Array‐CGH) showed 2.05 Mb de novo interstitial deletion at 10p11.23p11.22. The deleted region overlaps 1 OMIM Morbid Map gene, ZEB1 (the zinc finger E‐box binding homeobox...