A5081801895- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Protist diversity and phylogeny
- Microtubule and mitosis dynamics
- Genetic Neurodegenerative Diseases
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- Congenital Heart Disease Studies
- Autism Spectrum Disorder Research
- Chronic Myeloid Leukemia Treatments
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Acute Myeloid Leukemia Research
- Genetic factors in colorectal cancer
Hospital for Sick Children
2019-2023
Washington University in St. Louis
2023
Lunenfeld-Tanenbaum Research Institute
2015-2017
University of Toronto
2015-2017
Mount Sinai Hospital
2015-2017
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,...
Abstract Tandem repeat expansions (TREs) can cause neurological diseases but their impact in schizophrenia is unclear. Here we analyzed genome sequences of adults with and found that they have a higher burden TREs are near exons rare the general population, compared non-psychiatric controls. These disproportionately at loci known to be associated from genome-wide association studies, individuals clinically-relevant genetic variants other loci, families where multiple schizophrenia. We showed...
Primary cilia are microtubule-based sensory organelles necessary for efficient transduction of extracellular cues. To initiate formation, ciliary vesicles (CVs) transported to the vicinity centrosome where they dock distal end mother centriole and fuse cilium assembly. However, this date, early steps in formation remain incompletely understood. Here, we demonstrate functional interplay between CEP19, FOP CEP350 ciliogenesis. Using three-dimensional structured-illumination microscopy (3D-SIM)...
Recent genome-wide studies of rare genetic variants have begun to implicate novel mechanisms for tetralogy Fallot (TOF), a severe congenital heart defect (CHD). To provide statistical support case-only data without parental genomes, we re-analyzed genome sequences 231 individuals with TOF (n = 175) or related CHD. We adapted burden test originally developed de novo assess ultra-rare variant in individual genes, and gene-sets corresponding functional pathways mouse phenotypes, accounting...
Abstract The range of genetic variation with potential clinical implications in schizophrenia, beyond rare copy number variants (CNVs), remains uncertain. We therefore analyzed genome sequencing data for 259 unrelated adults schizophrenia from a well-characterized community-based cohort previously examined chromosomal microarray CNVs (none 22q11.2 deletions). these genomes high-impact considered causal neurodevelopmental disorders, including single-nucleotide (SNVs) and small...
Variants in
We examined the utility of clinical and research processes in reanalysis publicly-funded exome sequencing data Ontario, Canada. In partnership with eight sites, we recruited 287 families suspected rare genetic diseases tested between 2014 2020. Data from seven laboratories was reanalyzed referring clinicians. Reanalysis clinically relevant genes identified diagnoses 4% (13/287); four were missed by testing. Translational methods, including analysis novel candidate genes, candidates 21%...
Abstract Tandem repeat expansions (TREs) can cause neurological diseases but their impact in schizophrenia is unclear. Here we analyzed genome sequences of adults with and found that they have a higher burden TREs are near exons rare the general population, compared non-psychiatric controls. These disproportionately at loci known to be associated from genome-wide association studies, individuals clinically-relevant genetic variants other loci, families where multiple schizophrenia. Our...
Objective Eukaryotic cilia/flagella are dynamic microtubule (MT)based organelles. The ciliary axoneme is built from a radial scaffold of 9 MT doublets, plus central pair, in the case motile cilia. templated by basal body (BB)/centriole derived mother centriole, animal cells, which presents sub-distal and distal appendages critical for cilia formation. In vertebrates, different types fulfil diverse functions, embryonic development homeostasis adult tissues. Cilia malfunction causes...
Abstract Recent genome-wide studies of rare genetic variants have begun to implicate novel mechanisms for tetralogy Fallot (TOF), a severe congenital heart defect (CHD). To provide statistical support case-only data without parental genomes, we re-analyzed genome sequences 231 individuals with TOF or related CHD. We adapted burden test originally developed de novo assess singleton variant in individual genes, and gene-sets corresponding functional pathways mouse phenotypes, accounting highly...