A5029908244- Genetic Associations and Epidemiology
- Congenital heart defects research
- Attention Deficit Hyperactivity Disorder
- Genomics and Rare Diseases
- Retinal Development and Disorders
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Genetics, Bioinformatics, and Biomedical Research
- Genetic Mapping and Diversity in Plants and Animals
- Health, Environment, Cognitive Aging
- RNA and protein synthesis mechanisms
- Hearing, Cochlea, Tinnitus, Genetics
- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Congenital Heart Disease Studies
- Lysosomal Storage Disorders Research
- Folate and B Vitamins Research
- Systemic Lupus Erythematosus Research
- Genetic and phenotypic traits in livestock
- Ocular Disorders and Treatments
- Retinal Diseases and Treatments
- Immune Cell Function and Interaction
- Cardiomyopathy and Myosin Studies
Hospital for Sick Children
2014-2025
SickKids Foundation
2013-2023
University College London
2023
Great Ormond Street Hospital
2023
University of Toronto
2017-2021
Genome Canada
2016
McGill University Health Centre
2001-2007
McGill University
2005
Montreal General Hospital
2002
Renal disease variability in autosomal dominant polycystic kidney (ADPKD) is strongly influenced by the gene locus ( PKD1 versus PKD2 ). Recent studies identified nontruncating mutations approximately 30% of patients who underwent comprehensive mutation screening, but clinical significance these not well defined. We examined genotype-renal function correlation a prospective cohort 220 unrelated ADPKD families ascertained through probands with serum creatinine ≤1.4 mg/dl at recruitment....
Recommended by Heikki LehvaslaihoDue to rapid technological advances, various types of genomic and proteomic data with different sizes, formats, structures have become available.Among them are gene expression, single nucleotide polymorphism, copy number variation, proteinprotein/gene-gene interactions.Each these distinct provides a different, partly independent complementary, view the whole genome.However, understanding functions genes, proteins, other aspects genome requires more...
Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% static infantile encephalopathies. We report the identification mutations in PMPCA 17 patients from four families affected with ataxia, including large Lebanese family previously described autosomal recessive ataxia and short stature Norman type localized to chromosome 9q34 (OMIM #213200). All present non-progressive majority have intellectual disability variable severity. encodes α-MPP, alpha...
Abstract We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health cognition a community sample 7100 unrelated children youth European or East Asian ancestry (Spit for Science). Clinically significant susceptibility CNVs were present 3.9% participants associated with elevated scores on continuous measure attention-deficit/hyperactivity disorder (ADHD) (P = 5.0 × 10−3), longer response inhibition (a cognitive...
<h3>Purpose</h3> To identify the genetic cause of autosomal-dominant pattern dystrophy (PD) retinal pigment epithelium (RPE) in two families. <h3>Methods and results</h3> Two families with PD were identified. Eight members family 1 (five affected) subjected to whole-genome SNP genotyping; multipoint genome-wide linkage analysis identified 7 regions potential linkage, genotyping four additional individuals from resulted a maximum logarithm odds score 2.09 observed across chromosomal regions....
Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation TRIM32 gene chromosome region 9q32, causing LGMD2H approximately two-thirds 60 LGMD patients studied to date. A genomewide scan was undertaken five families who did not show linkage locus on 9. second locus, LGMD2I, 19q13.3, and causative as c.826C>A (L276I), missense FKRP gene. comparison clinical characteristics two patient groups this reveals some differences....
Abstract. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a renal phosphate (Pi) wasting disease first described in an extended Bedouin kindred, is characterized by hypophosphatemia, elevated serum 1,25-dihydroxyvitamin D levels, hypercalciuria, rickets, and osteomalacia. Correction of all abnormalities, except for Pi wasting, can be achieved oral supplementation. These findings the demonstration that mice are homozygous disrupted Na/Pi cotransporter gene Npt2 exhibit many...
Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic polygenic components. We here report results from the largest HCM genome-wide association study (GWAS) multi-trait analysis (MTAG) including 5,900 cases, 68,359 controls, 36,083 UK Biobank (UKB) participants cardiac magnetic resonance (CMR) imaging. identified a total 70 loci (50 novel) associated HCM, 62 (32 as sociated relevant left ventricular (LV) structural or functional traits....
Systemic lupus erythematosus is a genetically complex disease. Currently, the precise allelic polymorphisms associated with this condition remain largely unidentified. In part reflects fact that multiple genes, each having relatively minor effect, act in concert to produce Given complexity, analysis of subclinical phenotypes may aid identification susceptibility alleles. Here, we used flow cytometry investigate whether some immune abnormalities are seen peripheral blood lymphocyte population...
Background We previously identified an association between a mismatch repair gene, MLH1, promoter SNP (rs1800734) and microsatellite unstable (MSI-H) colorectal cancers (CRCs) in two samples. The current study expanded on this finding as we explored the genetic basis of DNA methylation region chromosome 3. hypothesized that specific polymorphisms MLH1 gene predispose it to methylation, resulting loss expression, mismatch-repair function, consequently genome-wide instability....
Citation For any use of the 1000 Genomes Project data, please citation as noted here: http://www.1000genomes.org/faq/how-do-i-cite-1000-genomes-project . To cite this report or lists described here, following: Roslin NM, Li W, Paterson AD, Strug LJ. Quality control analysis Omni2.5 genotypes (Abstract/Program #576/F). Presented at 66 th Annual Meeting The American Society Human Genetics, October 18-22, 2016, Vancouver, Canada. Data Summary Chips : IlluminaHumanOmni2.5-4v1_B and Illumina...
Abstract Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness (DFNA) remains challenging. We report a new DFNA gene, ATP11A , in Newfoundland family with variable form bilateral sensorineural hearing loss (SNHL). Genome-wide SNP genotyping linked SNHL to DFNA33 (LOD = 4.77), locus on 13q34 previously mapped German SNHL. Whole-genome sequencing identified 51 unremarkable positional variants . Continuous...
Objective Psoriatic arthritis (PsA) has a clear familial predisposition, the major histocompatibility complex (MHC) region being strongest genetic locus. The study primary objective was to identify single nucleotide polymorphisms (SNPs) independent of known human leucocyte antigen (HLA) alleles within MHC that are associated with PsA using high-density SNP map. Method In all, 914 samples were assessed, including 427 cases from 2 well established cohorts and 487 controls Canada. genotype data...
Retinitis pigmentosa (RP) describes a complex group of inherited retinal dystrophies with almost 300 reported genes and loci. We investigated the genetic etiology autosomal recessive RP (arRP) in large kindred 5 affected family members, who reside on island Newfoundland, Canada.Genetic linkage analysis was performed 12 members (Infinium HumanOmni2.5-8 BeadChip). Whole exome sequencing (Illumina HiSeq) one individual. A custom pipeline applied to call, annotate, filter variants. FishingCNV...
We aim to identify rare variants that have large effects on trait variance using a cost-efficient strategy. use an oligogenic segregation analysis as prioritizing tool for whole-exome sequencing studies families more likely harbor variants, by estimating the mean number of quantitative loci (QTLs) in each family. hypothesize with additional QTLs, relative other families, are segregate functional variants. test association traits only regions where at least modest evidence linkage is...