Asthma and genes encoding components of the vitamin D pathway (2009)
Bossé, Yohan, Lemire, Mathieu, Poon, Audrey H, Daley, Denise, He, Jian-Qing, Sandford, Andrew, ...
Abstract Background Genetic variants at the vitamin D receptor (VDR) locus are associated with asthma and atopy. We hypothesized that polymorphisms in other genes of the vitamin D pathway are...
Common variants in the NLRP3 region contribute to Crohn's disease susceptibility (2009)
Lemire, Mathieu, Fortin, Genevieve, Louis, Edouard, Silverberg, Mark S, Collette, Catherine, ...
We used a candidate gene approach to identify a set of SNPs, located in a predicted regulatory region on chromosome 1q44 downstream of NLRP3 (previously known as CIAS1 and NALP3) that are associated...
Common variants in the NLRP3 region contribute to Crohn's disease susceptibility. (2009)
Villani, Alexandra-Chloé, Lemire, Mathieu, Fortin, Geneviève, Louis, Edouard, Silverberg, Mark S., Collette, Catherine, ...
We used a candidate gene approach to identify a set of SNPs, located in a predicted regulatory region on chromosome 1q44 downstream of NLRP3 (previously known as CIAS1 and NALP3) that are associated...
ARTICLE An STS-Based Map of the Human Genome (2008)
Thomas J. Hudson, Lincoln D. Stein, Sebastian S. Gerety, Junli Ma, Andrew B. Castle, ...
A physical map has been constructed of the human genome containing 15,086 sequence-tagged sites (STSs), with an average spacing of 199 kilobases. The project involved assembly of a radiation hybrid...
Wither, Joan, Cai, Yong-chun, Lim, Sooyeol, McKenzie, Tamara, Roslin, Nicole, Claudio, Jaime O, ...
Abstract Introduction Systemic lupus erythematosus is a genetically complex disease. Currently, the precise allelic polymorphisms associated with this condition remain largely unidentified. In part...
MAPPING CIS-ACTING REGULATORY VARIATION IN RECOMBINANT CONGENIC STRAINS (2008)
Peter D Lee, Bing Ge, Donna Sinnett, Yannick Fortin, Sebastien Brunet, ...
Copyright © 2006 by the American Physiological Society. We present an integrated approach for the enriched detection of genes subject to cis-acting variation in the mouse genome. Gene expression...
PRKCA and multiple sclerosis: association in two independent populations (2008)
Choi, Eva, Asselta, Rosanna, Lincoln, Matthew R., Hudson, Thomas J., Chen, Daniel, Sadovnick, A. Dessa, ...
Influence of leukotriene gene polymorphisms on chronic rhinosinusitis (2008)
Al-Shemari, Hasan, Bossé, Yohan, Hudson, Thomas J, Cabaluna, Myrna, Duval, Melanie, Lemire, Mathieu, ...
Abstract Background Chronic rhinosinusitis (CRS) is increasingly viewed as an inflammatory condition of the sinonasal mucosa interacting with bacteria and/or fungi. However, factors conferring...
David Serre, Scott Gurd, Bing Ge, Robert Sladek, Donna Sinnett, Eef Harmsen, ...
The recent development of whole genome association studies has lead to the robust identification of several loci involved in different common human diseases. Interestingly, some of the strongest...
DeLuca, Gabriele C., Ramagopalan, Sreeram V., Herrera, Blanca M., Dyment, David Alexandre, Lincoln, Matthew R., Montpetit, Alexandre, ...
Multiple sclerosis (MS) is a common inflammatory disease of the central nervous system unsurpassed for variability in disease outcome. A cohort of sporadic MS cases (n=63), taken from opposite...
Kerstin Lindblad-toh, Petteri Sevon, John D. Rioux, Anu Villapakkam, Lauri A. Laitinen, ...
We have analyzed a dense set of single-nucleotide polymorphisms (SNPs) and microsatellites spanning the T-helper cytokine gene cluster (interleukins 3, 4, 5, 9, and 13, interferon regulatory...
An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture (2007)
Christa M. Lese, Kathrin S. Precht, Julie Kuc, Yi Ning, Sarah Lucas, ...
Telomere-specific clones are a valuable resource for the characterization of chromosomal rearrangements. We previously reported a first-generation set of human telomere probes consisting of 34...
A second generation human haplotype map of over 3.1 million SNPs (2007)
Frazer, Kelly A., Ballinger, Dennis G., Cox, David R., Hinds, David A., Stuve, Laura L., Gibbs, Richard A., ...
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and...
Heritability of alternative splicing in the human genome (2007)
Kwan, Tony, Benovoy, David, Dias, Christel, Gurd, Scott, Serre, David, Zuzan, Harry, ...
Alternative pre-mRNA splicing increases proteomic diversity and provides a potential mechanism underlying both phenotypic diversity and susceptibility to genetic disorders in human populations. To...
Raby, Benjamin A., Soto-Quiros, Manuel E., Avila, Lydiana, Lake, Stephen L., Murphy, Amy, Liang, Catherine, ...
Serum total immunoglobulin E (IgE) is a critical intermediate phenotype of allergic diseases. Although total IgE exhibits sexual dimorphism in humans (with males demonstrating higher IgE than...
An Evaluation of the Performance of Tag SNPs Derived from HapMap in a Caucasian Population (2006)
Alexandre Montpetit, Mari Nelis, Philippe Laflamme, Reedik Magi, Xiayi Ke, Maido Remm, ...
The Haplotype Map (HapMap) project recently generated genotype data for more than 1 million single-nucleotide polymorphisms (SNPs) in four population samples. The main application of the data is in...
PRKCA and Multiple Sclerosis: Association in Two Independent Populations (2006)
Janna Saarela, Suvi P. Kallio, Daniel Chen, Alexandre Montpetit, Anne Jokiaho, Eva Choi, ...
Multiple sclerosis (MS) is a chronic disease of the central nervous system responsible for a large portion of neurological disabilities in young adults. Similar to what occurs in numerous complex...
An evaluation of the performance of tag SNPs derived from HapMap in a Caucasian population (2006)
Alexandre Montpetit, Mari Nelis, Philippe Laflamme, Reedik Magi, Xiayi Ke, Maido Remm, ...
The HapMap project recently generated genotype data for more than 1 million SNPs in four population samples. The main application of the data is in the selection of tag SNPs (or tSNPs) to use in...
Influence of human genome polymorphism on gene (2006)
Tomi Pastinen, Bing Ge, Thomas J. Hudson
expression
Influence of human genome polymorphism on gene expression (2006)
Pastinen, Tomi, Ge, Bing, Hudson, Thomas J.
Genetic variation, through its effects on gene expression, plays a crucial role in phenotypic variation and disease susceptibility. Recent studies from our group and others have integrated a number...
Raby, Benjamin A., Soto-Quiros, Manuel E., Avila, Lydiana, Lake, Stephen L., Murphy, Amy, Liang, Catherine, ...
Serum total immunoglobulin E (IgE) is a critical intermediate phenotype of allergic diseases. Although total IgE exhibits sexual dimorphism in humans (with males demonstrating higher IgE than...
Mapping common regulatory variants to human haplotypes (2005)
Pastinen, Tomi, Ge, Bing, Gurd, Scott, Gaudin, Tiffany, Dore, Carole, Lemire, Mathieu, ...
Inter-individual variation in gene expression has proven to be in part governed by genetic determinants, which may be trans- or cis-acting. The underlying cause of cis-acting regulatory variation has...
Functional promoter SNPs in cell cycle checkpoint genes (2005)
Bélanger, Hélène, Beaulieu, Patrick, Moreau, Claudia, Labuda, Damian, Hudson, Thomas J., Sinnett, Daniel
A substantial number of genes mutated in human cancers encode components of the cell cycle processes. As the G1/S transition in the cell cycle is a finely regulated biological process, we...
Large-scale recombination rate patterns are conserved among human populations (2005)
Serre, David, Nadon, Robert, Hudson, Thomas J.
In humans, most recombination events occur in a small fraction of the genome. These hotspots of recombination show considerable variation in intensity and/or location across species and, potentially,...
Survey of allelic expression using EST mining (2005)
Ge, Bing, Gurd, Scott, Gaudin, Tiffany, Dore, Carole, Lepage, Pierre, Harmsen, Eef, ...
Cis-acting allelic variation in gene regulation is a source of phenotypic variation. Consequently, recent studies have experimentally screened human genes in an attempt to initiate a catalog of genes...
Functional promoter SNPs in cell cycle checkpoint genes (2005)
Bélanger, Hélène, Beaulieu, Patrick, Moreau, Claudia, Labuda, Damian, Hudson, Thomas J., Sinnett, Daniel
A substantial number of genes mutated in human cancers encode components of the cell cycle processes. Since the G1/S transition in the cell cycle is a finely regulated biological process we...
Mapping common regulatory variants to human haplotypes (2005)
Pastinen, Tomi, Ge, Bing, Gurd, Scott, Gaudin, Tiffany, Dore, Carole, Lemire, Mathieu, ...
Inter-individual variation in gene expression has proven to be in part governed by genetic determinants, which may be trans- or cis-acting. The underlying cause of cis-acting regulatory variation has...
Functional classes of bronchial mucosa genes that are differentially expressed in asthma (2004)
Laprise, Catherine, Sladek, Robert, Ponton, André, Bernier, Marie-Claude, Hudson, Thomas J, Laviolette, Michel
Abstract Background Asthma pathogenesis and susceptibility involves a complex interplay between genetic and environmental factors. Their interaction modulates the airway inflammation and remodelling...
Florez, Jose C., Burtt, Noël, Almgren, Peter, Tuomi, Tiinamaija, Holmkvist, Johan, ...
Abstract is not available
Dobson, C. Melissa, Wai, Timothy, Leclerc, Daniel, Kadir, Hakan, Narang, Monica, Lerner-Ellis, Jordan P., ...
The methylmalonic acidurias are metabolic disorders resulting from deficient methylmalonyl-CoA mutase activity, a vitamin B12-dependent enzyme. We have cloned the gene for the cblB complementation...
Manderson, Emily N., Mes-Masson, Anne-Marie, Novak, Jaroslav, Lee, Peter D., Provencher, Diane, Hudson, Thomas J., ...
A Map of 75 Human Ribosomal Protein Genes (1998)
Kenmochi, Naoya, Kawaguchi, Tomoko, Rozen, Steve, Davis, Elizabeth, Goodman, Nathan, Hudson, Thomas J., ...
Characterization of Short Tandem Repeats from Thirty-One Human Telomeres (1997)
Rosenberg, Marjorie, Hui, Lester, Ma, Junli, Nusbaum, Harris C., Clark, Kevin, Robinson, Louise, ...
Gastier, Julie M., Pulido, Jacqueline C., Sunden, Sara, Brody, Thomas, Buetow, Kenneth H., Murray, Jeffrey C., ...
Genetic markers based upon PCR amplification of short tandem repeat-containing sequence tagged sites (STSs) have become the standard for genetic mapping. We have completed a survey based on the...
Dinucleotide repeat polymorphism at the D9S126 locus (9p21) (1993)
Fountain, Jane W., Hudson, Thomas J., Engelstein, Marcy, Housman, David E., Dracopoli, Nicholas C.
Radiation hybrid mapping of the zebrafish genome
Hukriede, Neil A., Joly, Lucille, Tsang, Michael, Miles, Jennifer, Tellis, Patricia, Epstein, Jonathan A., ...
The zebrafish is an excellent genetic system for the study of vertebrate development and disease. In an effort to provide a rapid and robust tool for zebrafish gene mapping, a panel of radiation...
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
Mootha, Vamsi K., Lepage, Pierre, Miller, Kathleen, Bunkenborg, Jakob, Reich, Michael, Hjerrild, Majbrit, ...
Identifying the genes responsible for human diseases requires combining information about gene position with clues about biological function. The recent availability of whole-genome data sets of RNA...
Characterization of Short Tandem Repeats from Thirty-One Human Telomeres
Rosenberg, Marjorie, Hui, Lester, Ma, Junli, Nusbaum, Harris C., Clark, Kevin, Robinson, Louise, ...
Completion of genetic and physical maps requires markers from the ends (telomeres) of every human chromosome. We have searched for short tandem repeats (microsatellites) in cosmid and P1 clones and...
Korenberg, Julie R., Chen, Xiao-Ning, Sun, Zhiguang, Shi, Zheng-Yang, Ma, Shaowu, Vataru, Eddy, ...
Human genome sequencing is accelerating rapidly. Multiple genome maps link this sequence to problems in biology and clinical medicine. Because each map represents a different aspect of the structure,...
Mullick, Alaka, Elias, Miria, Harakidas, Penelope, Marcil, Anne, Whiteway, Malcolm, Ge, Bing, ...
Candida albicans is an opportunistic human pathogen causing both superficial and disseminated diseases. It is a dimorphic fungus, switching between yeast and hyphal forms, depending on cues from its...
Functional classes of bronchial mucosa genes that are differentially expressed in asthma
Laprise, Catherine, Sladek, Robert, Ponton, André, Bernier, Marie-Claude, Hudson, Thomas J, Laviolette, Michel
Hirschhorn, Joel N., Lindgren, Cecilia M., Daly, Mark J., Kirby, Andrew, Schaffner, Stephen F., Burtt, Noel P., ...
Genomewide linkage analysis has been extremely successful at identification of the genetic variation underlying single-gene disorders. However, linkage analysis has been less successful for common...
Seyda, Agnieszka, Newbold, Robert F., Hudson, Thomas J., Verner, Andrei, MacKay, Neviana, Winter, Susan, ...
We have studied cultured skin fibroblasts from three siblings and one unrelated individual, all of whom had fatal mitochondrial disease manifesting soon after birth. After incubation with 1 mM...
Lee, Nana, Daly, Mark J., Delmonte, Terrye, Lander, Eric S., Xu, Fenghao, Hudson, Thomas J., ...
Leigh syndrome (LS) affects 1/40,000 newborn infants in the worldwide population and is characterized by the presence of developmental delay and lactic acidosis and by a mean life expectancy...
A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22
Héon, Elise, Paterson, Andrew D., Fraser, Michael, Billingsley, Gail, Priston, Megan, Balmer, Aubin, ...
Cataracts are the leading cause of blindness in most countries. Although most hereditary cases appear to follow an autosomal dominant pattern of inheritance, autosomal recessive inheritance has been...
Goobie, Sharan, Popovic, Maja, Morrison, Jodi, Ellis, Lynda, Ginzberg, Hedy, Boocock, Graeme R. B., ...
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with...
Bétard, Christine, Rasquin-Weber, Andrée, Brewer, Carl, Drouin, Eric, Clark, Suzanne, Verner, Andrei, ...
North American Indian childhood cirrhosis (NAIC, or CIRH1A) is an isolated nonsyndromic form of familial cholestasis reported in Ojibway-Cree children and young adults in northwestern Quebec. The...
An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture
Knight, Samantha J. L., Lese, Christa M., Precht, Kathrin S., Kuc, Julie, Ning, Yi, Lucas, Sarah, ...
Telomere-specific clones are a valuable resource for the characterization of chromosomal rearrangements. We previously reported a first-generation set of human telomere probes consisting of 34...
Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12
Xiong, Lan, Labuda, Malgorzata, Li, Dong-Sheng, Hudson, Thomas J., Desbiens, Richard, Patry, Georges, ...
We identified two large French-Canadian families segregating a familial partial epilepsy syndrome with variable foci (FPEVF) characterized by mostly nocturnal seizures arising from frontal, temporal,...
Manderson, Emily N., Mes-Masson, Anne-Marie, Novak, Jaroslav, Lee, Peter D., Provencher, Diane, Hudson, Thomas J., ...
We have investigated previously the utility of oligonucleotide expression microarray technology in an analysis of four spontaneously transformed epithelial ovarian cancer (EOC) cell lines, TOV-21G,...
Lee, Peter D., Sladek, Robert, Greenwood, Celia M.T., Hudson, Thomas J.
Control genes, commonly defined as genes that are ubiquitously expressed at stable levels in different biological contexts, have been used to standardize quantitative expression studies for more than...
An Evaluation of the Performance of Tag SNPs Derived from HapMap in a Caucasian Population
Montpetit, Alexandre, Nelis, Mari, Laflamme, Philippe, Magi, Reedik, Ke, Xiayi, Remm, Maido, ...
The Haplotype Map (HapMap) project recently generated genotype data for more than 1 million single-nucleotide polymorphisms (SNPs) in four population samples. The main application of the data is in...
PRKCA and Multiple Sclerosis: Association in Two Independent Populations
Saarela, Janna, Kallio, Suvi P, Chen, Daniel, Montpetit, Alexandre, Jokiaho, Anne, Choi, Eva, ...
Multiple sclerosis (MS) is a chronic disease of the central nervous system responsible for a large portion of neurological disabilities in young adults. Similar to what occurs in numerous complex...
Large-scale recombination rate patterns are conserved among human populations
Serre, David, Nadon, Robert, Hudson, Thomas J.
In humans, most recombination events occur in a small fraction of the genome. These hotspots of recombination show considerable variation in intensity and/or location across species and, potentially,...
Survey of allelic expression using EST mining
Ge, Bing, Gurd, Scott, Gaudin, Tiffany, Dore, Carole, Lepage, Pierre, Harmsen, Eef, ...
Cis-acting allelic variation in gene regulation is a source of phenotypic variation. Consequently, recent studies have experimentally screened human genes in an attempt to initiate a catalog of genes...
Radiation hybrid mapping of the zebrafish genome
Hukriede, Neil A., Joly, Lucille, Tsang, Michael, Miles, Jennifer, Tellis, Patricia, Epstein, Jonathan A., ...
The zebrafish is an excellent genetic system for the study of vertebrate development and disease. In an effort to provide a rapid and robust tool for zebrafish gene mapping, a panel of radiation...
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
Mootha, Vamsi K., Lepage, Pierre, Miller, Kathleen, Bunkenborg, Jakob, Reich, Michael, Hjerrild, Majbrit, ...
Identifying the genes responsible for human diseases requires combining information about gene position with clues about biological function. The recent availability of whole-genome data sets of RNA...
Manderson, Emily N., Mes-Masson, Anne-Marie, Novak, Jaroslav, Lee, Peter D., Provencher, Diane, Hudson, Thomas J., ...
We have investigated previously the utility of oligonucleotide expression microarray technology in an analysis of four spontaneously transformed epithelial ovarian cancer (EOC) cell lines, TOV-21G,...
Lee, Peter D., Sladek, Robert, Greenwood, Celia M.T., Hudson, Thomas J.
Control genes, commonly defined as genes that are ubiquitously expressed at stable levels in different biological contexts, have been used to standardize quantitative expression studies for more than...
Characterization of Short Tandem Repeats from Thirty-One Human Telomeres
Rosenberg, Marjorie, Hui, Lester, Ma, Junli, Nusbaum, Harris C., Clark, Kevin, Robinson, Louise, ...
Completion of genetic and physical maps requires markers from the ends (telomeres) of every human chromosome. We have searched for short tandem repeats (microsatellites) in cosmid and P1 clones and...
Korenberg, Julie R., Chen, Xiao-Ning, Sun, Zhiguang, Shi, Zheng-Yang, Ma, Shaowu, Vataru, Eddy, ...
Human genome sequencing is accelerating rapidly. Multiple genome maps link this sequence to problems in biology and clinical medicine. Because each map represents a different aspect of the structure,...
Mullick, Alaka, Elias, Miria, Harakidas, Penelope, Marcil, Anne, Whiteway, Malcolm, Ge, Bing, ...
Candida albicans is an opportunistic human pathogen causing both superficial and disseminated diseases. It is a dimorphic fungus, switching between yeast and hyphal forms, depending on cues from its...
A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis
Chagnon, Pierre, Michaud, Jacques, Mitchell, Grant, Mercier, Jocelyne, Marion, Jean-François, Drouin, Eric, ...
North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several...
Watkins, David, Ru, Ming, Hwang, Hye-Yeon, Kim, Caroline D., Murray, Angus, Philip, Noah S., ...
Mutations in the MTR gene, which encodes methionine synthase on human chromosome 1p43, result in the methylcobalamin deficiency G (cblG) disorder, which is characterized by homocystinuria,...
Functional classes of bronchial mucosa genes that are differentially expressed in asthma
Laprise, Catherine, Sladek, Robert, Ponton, André, Bernier, Marie-Claude, Hudson, Thomas J, Laviolette, Michel
Lemire, Mathieu, Roslin, Nicole M., Laprise, Catherine, Hudson, Thomas J., Morgan, Kenneth
We studied the effect of transmission-ratio distortion (TRD) on tests of linkage based on allele sharing in affected sib pairs. We developed and implemented a discrete-trait allele-sharing test...
Hirschhorn, Joel N., Lindgren, Cecilia M., Daly, Mark J., Kirby, Andrew, Schaffner, Stephen F., Burtt, Noel P., ...
Genomewide linkage analysis has been extremely successful at identification of the genetic variation underlying single-gene disorders. However, linkage analysis has been less successful for common...
Seyda, Agnieszka, Newbold, Robert F., Hudson, Thomas J., Verner, Andrei, MacKay, Neviana, Winter, Susan, ...
We have studied cultured skin fibroblasts from three siblings and one unrelated individual, all of whom had fatal mitochondrial disease manifesting soon after birth. After incubation with 1 mM...
Lee, Nana, Daly, Mark J., Delmonte, Terrye, Lander, Eric S., Xu, Fenghao, Hudson, Thomas J., ...
Leigh syndrome (LS) affects 1/40,000 newborn infants in the worldwide population and is characterized by the presence of developmental delay and lactic acidosis and by a mean life expectancy...
A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22
Héon, Elise, Paterson, Andrew D., Fraser, Michael, Billingsley, Gail, Priston, Megan, Balmer, Aubin, ...
Cataracts are the leading cause of blindness in most countries. Although most hereditary cases appear to follow an autosomal dominant pattern of inheritance, autosomal recessive inheritance has been...
Goobie, Sharan, Popovic, Maja, Morrison, Jodi, Ellis, Lynda, Ginzberg, Hedy, Boocock, Graeme R. B., ...
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with...
Bétard, Christine, Rasquin-Weber, Andrée, Brewer, Carl, Drouin, Eric, Clark, Suzanne, Verner, Andrei, ...
North American Indian childhood cirrhosis (NAIC, or CIRH1A) is an isolated nonsyndromic form of familial cholestasis reported in Ojibway-Cree children and young adults in northwestern Quebec. The...
An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture
Knight, Samantha J. L., Lese, Christa M., Precht, Kathrin S., Kuc, Julie, Ning, Yi, Lucas, Sarah, ...
Telomere-specific clones are a valuable resource for the characterization of chromosomal rearrangements. We previously reported a first-generation set of human telomere probes consisting of 34...
Mapping of a Gene Determining Familial Partial Epilepsy with Variable Foci to Chromosome 22q11-q12
Xiong, Lan, Labuda, Malgorzata, Li, Dong-Sheng, Hudson, Thomas J., Desbiens, Richard, Patry, Georges, ...
We identified two large French-Canadian families segregating a familial partial epilepsy syndrome with variable foci (FPEVF) characterized by mostly nocturnal seizures arising from frontal, temporal,...
Large-scale recombination rate patterns are conserved among human populations
Serre, David, Nadon, Robert, Hudson, Thomas J.
In humans, most recombination events occur in a small fraction of the genome. These hotspots of recombination show considerable variation in intensity and/or location across species and, potentially,...
Survey of allelic expression using EST mining
Ge, Bing, Gurd, Scott, Gaudin, Tiffany, Dore, Carole, Lepage, Pierre, Harmsen, Eef, ...
Cis-acting allelic variation in gene regulation is a source of phenotypic variation. Consequently, recent studies have experimentally screened human genes in an attempt to initiate a catalog of genes...
An Evaluation of the Performance of Tag SNPs Derived from HapMap in a Caucasian Population
Montpetit, Alexandre, Nelis, Mari, Laflamme, Philippe, Magi, Reedik, Ke, Xiayi, Remm, Maido, ...
The Haplotype Map (HapMap) project recently generated genotype data for more than 1 million single-nucleotide polymorphisms (SNPs) in four population samples. The main application of the data is in...
PRKCA and Multiple Sclerosis: Association in Two Independent Populations
Saarela, Janna, Kallio, Suvi P, Chen, Daniel, Montpetit, Alexandre, Jokiaho, Anne, Choi, Eva, ...
Multiple sclerosis (MS) is a chronic disease of the central nervous system responsible for a large portion of neurological disabilities in young adults. Similar to what occurs in numerous complex...
Mutations in TMEM76* Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, ...
Mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl–coenzyme...
Paré, Guillaume, Serre, David, Brisson, Diane, Anand, Sonia S., Montpetit, Alexandre, Tremblay, Gérald, ...
Coronary artery disease (CAD) is a major health concern in both developed and developing countries. With a heritability estimated at ∼50%, there is a strong rationale to better define the genetic...
Heritability of alternative splicing in the human genome
Kwan, Tony, Benovoy, David, Dias, Christel, Gurd, Scott, Serre, David, Zuzan, Harry, ...
Alternative pre-mRNA splicing increases proteomic diversity and provides a potential mechanism underlying both phenotypic diversity and susceptibility to genetic disorders in human populations. To...
Correction of Population Stratification in Large Multi-Ethnic Association Studies
Serre, David, Montpetit, Alexandre, Paré, Guillaume, Engert, James C., Yusuf, Salim, Keavney, Bernard, ...
Serre, David, Gurd, Scott, Ge, Bing, Sladek, Robert, Sinnett, Donna, Harmsen, Eef, ...
The recent development of whole genome association studies has lead to the robust identification of several loci involved in different common human diseases. Interestingly, some of the strongest...
Influence of leukotriene gene polymorphisms on chronic rhinosinusitis
Al-Shemari, Hasan, Bossé, Yohan, Hudson, Thomas J, Cabaluna, Myrna, Duval, Melanie, Lemire, Mathieu, ...
Germline EPHB2 Receptor Variants in Familial Colorectal Cancer
Zogopoulos, George, Jorgensen, Claus, Bacani, Julinor, Montpetit, Alexandre, Lepage, Pierre, Ferretti, Vincent, ...
Familial clustering of colorectal cancer occurs in 15–20% of cases, however recognized cancer syndromes explain only a small fraction of this disease. Thus, the genetic basis for the majority of...
Genes to Diseases (G2D) Computational Method to Identify Asthma Candidate Genes
Tremblay, Karine, Lemire, Mathieu, Potvin, Camille, Tremblay, Alexandre, Hunninghake, Gary M., Raby, Benjamin A., ...
Asthma is a complex trait for which different strategies have been used to identify its environmental and genetic predisposing factors. Here, we describe a novel methodological approach to select...
Montpetit, Alexandre, Côté, Stéphanie, Brustein, Edna, Drouin, Christian A., Lapointe, Line, Boudreau, Michèle, ...
Adaptor protein (AP) complexes regulate clathrin-coated vesicle assembly, protein cargo sorting, and vesicular trafficking between organelles in eukaryotic cells. Because disruption of the various...
Hunninghake, Gary M., Lasky-Su, Jessica, Soto-Quirós, Manuel E., Avila, Lydiana, Liang, Catherine, Lake, Stephen L., ...
Rationale: The basis for gender influences on allergen-specific IgEs is unclear.
Patterns of variation in DNA segments upstream of transcription start sites
Labuda, Damian, Labbé, Catherine, Langlois, Sylvie, Lefebvre, Jean-Francois, Freytag, Virginie, Moreau, Claudia, ...
It is likely that evolutionary differences among species are driven by sequence changes in regulatory regions. Likewise, polymorphisms in the promoter regions may be responsible for interindividual...
Warby, Simon C., Montpetit, Alexandre, Hayden, Anna R., Carroll, Jeffrey B., Butland, Stefanie L., Visscher, Henk, ...
Huntington disease (HD) is an autosomal-dominant disorder that results from ≥36 CAG repeats in the HD gene (HTT). Approximately 10% of patients inherit a chromosome that underwent CAG expansion...