1. Functional Variation
001 : Beaulieu et al : An ENSEMBL/BIOMART - based environment for the analysis of regulatory regions functional assays 002 : Koboldt et al : Identification of functional SNPs in noncoding regions of the human genome 003 : Lancet et al : Variability modes of human olfactory receptors: inactive alleles and prevalent copy number variation 004 : Grundberg et al : Population variability of induced gene expression: an approach for functional variant discovery in human primary cells 005 : Dionne et al : Functional impact of regulatory polymorphisms (rSNP) in G1/S cell cycle checkpoint genes 006 : Samuel et al : Novel Regulatory Regions in the Interleukin 6 Gene and Implications for Disease/Gene Association Studies 007 : Ghahramani Seno et al : PTCHD3 gene: a copy number variable gene in humans 008 : Saferali et al : Lack of correlation between DNA methylation of promoter regions and allelic imbalance in expression of non-imprinted genes in lymphoblastoid cell lines2. Cancer Genomics
009 : Teng et al : Sensitive and Quantitative Detection of Somatic Tumor Mutations by Hi-Res MeltingTM on the LightScanner® 010 : Falk et al : Mapping of cancer regulatory pathways and identification of prognostic cancer biomarkers using ChIP-DSL promoter analysis 011 : Eis et al : Integrated Oncogenomics - Ultra-High Resolution Microarray Applications for Genome-Wide Cancer Research 012 : Aburatani : Cancer genome and epigenome 013 : Lockwood et al : Novel Genetic and Epigenetic Features of Lung Tumor Genomes 014 : Meunier et al : Detection of a novel locus on chromosome 3 responsible for susceptibility to colon cancer (CRC) in mice 015 : Sinnett et al : Impact of regulatory genetics in the susceptibility to childhood leukemia 016 : Wojnarowicz et al : Construction of a chromosome 17 transcriptome in ovarian cancer identifies differentially expressed genes3. Ethical Issues Related to Genome-Wide Scans
017 : Boggio : Ownership and circulation of samples and data in genome-wide scans 018 : Lunshof : Telling the truth - Veracity and the language of consent 019 : Lara-Alvarez et al : Ethical, legal and social aspects of the Mexican Genomic Variability Project 020 : Geransar et al : Fads in the virtual gene shop: Direct-to-consumer advertisements and access to genetic tests 021 : Walmsley et al : What interests and values should guide biobanking in British Columbia? A deliberative public consultation 022 : Lafreničre et al : Participating in Decision-Making Regarding Genetic Technologies: - A Matter of Self-Perceived Competence?4. Genes Chromosomes and Diseases
023 : Noor et al : A novel locus for autosomal recessive non-syndromic mental retardation (NSMR) maps to chromosome 4p15.33-p15.2 024 : Rafiq et al : A novel locus for autosomal recessive mental retardation maps to 2p25.3-25.2 in a consanguineous Pakistani family 025 : Mřller et al : Whole genome array CGH of epilepsy patients with congenital brain malformations 026 : Taylor et al : Co-transcription of genes into single transcripts: another regulatory mechanism for gene expression in vertebrates 027 : Lam et al : Processes of copy number change in human DNA : The dynamics of α-globin gene deletion 028 : Vandepoele et al : A Constitutional Translocation t(1;17)(p36.2;q11.2) in a Neuroblastoma Patient Disrupts NBPF1, a Member of a Recently Expanded Gene Family 029 : Burger et al : Unorthodox genome and gene structures in mitochondria of trypanosome pathogens and their relatives 030 : Alter et al : Stepwise replication identifies a low-producing lymphotoxin-α allele as a major risk factor for early-onset leprosy5. Bioinformatics and Biostatistics
031 : Wright et al : If We Could Talk to the Animals 032 : Davidovich et al : Tag SNPs Selected According to Prediction Accuracy Provide Higher Power to Association Studies 033 : Anwar : Application of a novel structured network pattern database technology towards accelerating personalised medicine research 034 : Kojima et al : A method for identifying genome-wide copy number variations from signal intensity distribution of high-density oligonucleotide genotyping arrays 035 : Bharadwaj et al : Disease gene prediction based on domain interaction and network motif analysis in Type 2 Diabetes Mellitus 036 : Akiva et al : Non-SNP Sequence Variations In The Human Genome6. Neurological Disease Genetics
037 : Reardon et al : X-linked infantile spinal muscular atrophy (XL-SMA): new insights into gene discovery and pathogenesis 038 : Huang et al : Mutation Screening of AP3M2 in Japanese Epilepsy Patients 039 : Poulin et al : Ion Channel Genes and Episodic Neurological Disorders: What we can learn from a large-scale mutation screen 040 : Gijselinck et al : Genomic Progranulin deletions in frontotemporal dementia patients 041 : Kunita et al : The Rab5 activator ALS2/alsin acts as a novel Rac1 effector through Rac1-activated macropinocytosis 042 : Riviere et al : HSN2 is a tissue-specific alternative exon of the WNK1 gene 043 : Smith et al : DNA Changes at Multiple Fragile Sites are Linked to Schizophrenia 044 : Lai et al : Translational readthroughs of stop codons in dystrophin7. Unique Population Resources
045 : Hidalgo-Miranda et al : Haplotype-sharing between the Mexican Mestizos and European, Asian and African populations 046 : Parra et al : A genome-wide admixture mapping panel for Hispanic/Latino populations 047 : Bherer et al : Differential genetic contribution of founders to the regional gene pools of Quebec 048 : Tonin et al : Heterogeneity of BRCA1/2 mutations in hereditary breast and/or ovarian cancer French Canadian families from Quebec Canada 049 : Mukerji et al : The Indian Genome Variation (IGV) Initiative: Overview and analysis of Phase 1 data 050 : Thavanati et al : Recessive alleles and Longevity among Kurichians: a tribal population of Kerala, India8. Animal Models
051 : Pasha et al : Cloning, genomic organization and expression analysis of yak HIF1A 052 : Mercader et al : Differentially expressed miRNAs regulate levels of predicted mRNA targets in the hypothalamus of an anorexia mouse model 053 : Nyberg et al : Intra-allelic Genetic Heterogeneity of Hypertrophic Cardiomyopathy in the Maine Coon Cat 054 : Min-Oo et al : Genetic mapping reveals a role for pantetheinase in the host response to blood-stage malaria 055 : Wiltshire : Mouse Genetic Model of Cardiovirulent Coxsackievirus B3 Infection 056 : Sedova et al : Nutrigenomic, metabolic and transcriptomic aspects of fetal origins of metabolic syndrome 057 : Richer et al : ENU Facing the Infectious Diseases Global Threat 058 : Tuo et al : Progressive Retinal Degeneration in CCL2/CX3CR1 Deficient Mice, a Novel Animal Model of Age-Related Macular Degeneration9. Disease Modifiers
059 : Dorfman et al : Modulatory effect of MBL2 on the onset of Pseudomonas aeruginosa infection is influenced by TGFB1 variants in pediatric Cysctic Fibrosis patients 060 : Villani et al : The Familial Mediterranean Fever (MEFV) Gene as a New Susceptibility and Modifier Gene for Ulcerative Colitis 061 : Heaney et al : Transgenerational epistasis between Dnd1Ter and other modifier genes controls susceptibility to testicular germ cell tumors 062 : Howell et al : The disease modifier SCNM1 interacts with spliceosome protein U1-70K and the novel factor LUC7L2 063 : Lebel et al : Genotype/phenotype correlation studies in French-Canadian glaucoma families co-segregating myocilin and WDR36 mutations/variations 064 : Alcaraz et al : Zfp423 marks a pathway in control of neural precursor proliferation and renewal10. Genetics of the Heart
065 : Hamet et al : Systematic search for sex-specific genomic determinants of 608 cardiovascular traits in French Canadians reveals novel loci/haplotypes 066 : Duan et al : Genetic risk factors for depression in patients with coronary artery disease 067 : Joly et al : Informed Consent in Pharmacogenomic Research: A Natural Evolution? 068 : Nejatizadeh et al : Positive association of NOS3 gene polymorphisms and haplotypes in human essential hypertension in Indian population 069 : Burgner et al : Common ancestral haplotypes of the major histocompatibility complex are strongly associated with susceptibility to Kawasaki disease in Australian Caucasians 070 : Símová et al : Mutation Analysis of the FBN1 Gene in Czech Patients with Aortic Dilatation 071 : Schnabel et al : Heritability, Environmental and Genetic Correlations and Linkage of Circulating Inflammatory Biomarker Concentrations 072 : Chasman et al : Polymorphism in the apolipoprotein(a) gene, plasma levels of Lp(a), ancestry, and interaction with aspirin treatment in cardiovascular disease prevention11. Large-Scale Genomics
073 : Aitman et al : FCGR3B copy number variation is associated with systemic but not organ-specific autoimmunity 074 : Bauser et al : Analysis of the genomic insertion sites of viral gene therapy vectors using next generation sequencing technologies 075 : Frazer : A genome-wide map of eight million SNPs in the laboratory mouse genome 076 : Kwan et al : Genome-Wide Association of Human DNA Sequence Variation with Differential pre-mRNA Processing and Transcription Initiation 077 : Montpetit et al : Copy-number variant detection using Illumina whole genome arrays 078 : Morin et al : Identification of small RNAs important in embryonic stem cells and their differentiation 079 : Sugano : Identification and comparative studies of promoter regions of human and mouse genes 080 : Carvalho Santos et al : A Map of Transmission Ratio Distortion on Human Chromosome 6p12. High Throughput Genetic Screens
081 : Maercker et al : Mesenchymal stem cells in live cell chips for high-content screenings in functional genomics 082 : Rogers : High-Throughput Targeted Re-Sequencing for SNP Discovery and Mutation Detection 083 : Brown et al : Development of Broad-based ADME Panels for Use in Pharmacogenomic Studies 084 : Serre et al : Design and analysis methods for multi-ethnic association studies: the case of the INTERHEART study 085 : Sundararajan et al : Real-time Single-Cell Analysis of Gene Expression 086 : Fournier et al : High-Quality, High-Throughput Genotyping and Genetic Analysis: A Platform for Gene Discovery and Pharmacogenomics Studies 087 : Paquin et al : Genome-Wide Association Studies for Complex Diseases Using Samples from the Quebec Founder Population: Examples with Psoriasis and ADHD