Philip Awadalla

Summary

Country: Canada

Publications

  1. pmc A population genetic approach to mapping neurological disorder genes using deep resequencing
    Rachel A Myers
    Department of Pediatrics, University of Montreal, Montreal, Canada
    PLoS Genet 7:e1001318. 2011
  2. pmc Age-dependent recombination rates in human pedigrees
    Julie Hussin
    Department of Biochemistry, Faculty of Medicine, University of Montreal, Montreal, Canada
    PLoS Genet 7:e1002251. 2011
  3. pmc Hypervariable antigen genes in malaria have ancient roots
    Martine M Zilversmit
    National Institute of Allergy of Infectious Disease, National Institutes of Health, 12735 Twinbrook Parkway, Rockville, MD 20852, USA
    BMC Evol Biol 13:110. 2013
  4. pmc High recombination rates and hotspots in a Plasmodium falciparum genetic cross
    Hongying Jiang
    Laboratory of Malaria and Vector Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Genome Biol 12:R33. 2011
  5. pmc Selection shapes malaria genomes and drives divergence between pathogens infecting hominids versus rodents
    Franck Prugnolle
    Laboratoire GEMI, UMR 2724 CNRS IRD, 911 Avenue Agropolis, BP 64501, 34394 Montpellier Cedex 5, France
    BMC Evol Biol 8:223. 2008
  6. pmc Direct measure of the de novo mutation rate in autism and schizophrenia cohorts
    Philip Awadalla
    Department of Pediatrics, Universite de Montreal, Quebec, Canada
    Am J Hum Genet 87:316-24. 2010
  7. pmc Rare allelic forms of PRDM9 associated with childhood leukemogenesis
    Julie Hussin
    Department of Biochemistry, Faculty of Medicine, University of Montreal, Montreal H3C 3J7, Canada
    Genome Res 23:419-30. 2013
  8. pmc Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
    Ferran Casals
    Centre de Recherche du Centre Hospitalier Universitaire Sainte Justine, Universite de Montreal, Montreal, Quebec, Canada
    PLoS Genet 9:e1003815. 2013
  9. ncbi High-resolution genomic analysis of human mitochondrial RNA sequence variation
    Alan Hodgkinson
    CHU Sainte Justine Research Centre, Department of Pediatrics, Faculty of Medicine, Universite de Montreal, 3175 chemin de la Cote Sainte Catherine, Montreal, Quebec H3T 1C5, Canada
    Science 344:413-5. 2014
  10. pmc Selective constraint, background selection, and mutation accumulation variability within and between human populations
    Alan Hodgkinson
    Sainte Justine Research Centre, Department of Pediatrics, University of Montreal, Montreal, Canada
    BMC Genomics 14:495. 2013

Collaborators

Detail Information

Publications15

  1. pmc A population genetic approach to mapping neurological disorder genes using deep resequencing
    Rachel A Myers
    Department of Pediatrics, University of Montreal, Montreal, Canada
    PLoS Genet 7:e1001318. 2011
    ..Additionally, our findings support the hypothesis that rare mutations account for a proportion of the phenotypic variance of these complex disorders...
  2. pmc Age-dependent recombination rates in human pedigrees
    Julie Hussin
    Department of Biochemistry, Faculty of Medicine, University of Montreal, Montreal, Canada
    PLoS Genet 7:e1002251. 2011
    ..We propose a model that reconciles our findings with reported associations between maternal age and recombination in cases of trisomies...
  3. pmc Hypervariable antigen genes in malaria have ancient roots
    Martine M Zilversmit
    National Institute of Allergy of Infectious Disease, National Institutes of Health, 12735 Twinbrook Parkway, Rockville, MD 20852, USA
    BMC Evol Biol 13:110. 2013
    ..Although studying genetic diversity is a major focus of recent work on the var genes, little is known about the gene family's origin and evolutionary history...
  4. pmc High recombination rates and hotspots in a Plasmodium falciparum genetic cross
    Hongying Jiang
    Laboratory of Malaria and Vector Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Genome Biol 12:R33. 2011
    ..A better understanding of these mechanisms may provide important information for studying parasite evolution, immune evasion and drug resistance...
  5. pmc Selection shapes malaria genomes and drives divergence between pathogens infecting hominids versus rodents
    Franck Prugnolle
    Laboratoire GEMI, UMR 2724 CNRS IRD, 911 Avenue Agropolis, BP 64501, 34394 Montpellier Cedex 5, France
    BMC Evol Biol 8:223. 2008
    ..reichenowi) versus parasites infecting rodent hosts (P. yoelii yoelii, P. berghei, and P. chabaudi). Adaptation by the parasite to its host is likely highly critical to the evolution of these species...
  6. pmc Direct measure of the de novo mutation rate in autism and schizophrenia cohorts
    Philip Awadalla
    Department of Pediatrics, Universite de Montreal, Quebec, Canada
    Am J Hum Genet 87:316-24. 2010
    ..Our results emphasize the importance of DNMs as genetic mechanisms in ASD and SCZ and the limitations of using DNA from archived cell lines to identify functional variants...
  7. pmc Rare allelic forms of PRDM9 associated with childhood leukemogenesis
    Julie Hussin
    Department of Biochemistry, Faculty of Medicine, University of Montreal, Montreal H3C 3J7, Canada
    Genome Res 23:419-30. 2013
    ..PRDM9 variability in humans is thought to influence genomic instability, and these data support a potential role for PRDM9 variation in risk of acquiring aneuploidies or genomic rearrangements associated with childhood leukemogenesis...
  8. pmc Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans
    Ferran Casals
    Centre de Recherche du Centre Hospitalier Universitaire Sainte Justine, Universite de Montreal, Montreal, Quebec, Canada
    PLoS Genet 9:e1003815. 2013
    ....
  9. ncbi High-resolution genomic analysis of human mitochondrial RNA sequence variation
    Alan Hodgkinson
    CHU Sainte Justine Research Centre, Department of Pediatrics, Faculty of Medicine, Universite de Montreal, 3175 chemin de la Cote Sainte Catherine, Montreal, Quebec H3T 1C5, Canada
    Science 344:413-5. 2014
    ..These results reveal a major nuclear genetic determinant of posttranscriptional modification in mitochondria and suggest that tRNA posttranscriptional modification may affect cellular energy production. ..
  10. pmc Selective constraint, background selection, and mutation accumulation variability within and between human populations
    Alan Hodgkinson
    Sainte Justine Research Centre, Department of Pediatrics, University of Montreal, Montreal, Canada
    BMC Genomics 14:495. 2013
    ..Here we utilise this relationship to test differences in the accumulation of putatively deleterious mutations both between populations and on the individual level...
  11. pmc De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
    Julie Gauthier
    Department of Medicine, Centre of Excellence in Neuromics of Université de Montréal, Centre Hospitalier de L Universite de Montreal Research Center, Universite de Montreal, Montreal, QC H2L 2W5, Canada
    Proc Natl Acad Sci U S A 107:7863-8. 2010
    ..As mutations in SHANK3 were previously reported in autism, the occurrence of SHANK3 mutations in subjects with a schizophrenia phenotype suggests a molecular genetic link between these two neurodevelopmental disorders...
  12. doi Next-generation sequencing approaches for genetic mapping of complex diseases
    Ferran Casals
    Centre de Recherche du Centre Hospitalier Universitaire Sainte Justine, Universite de Montreal, Montreal, Quebec, Canada
    J Neuroimmunol 248:10-22. 2012
    ..In this review we present the main next-generation sequencing technologies, with their major contributions and possible applications to the study of the genetic etiology of complex diseases...
  13. pmc Evidence for additive and interaction effects of host genotype and infection in malaria
    Youssef Idaghdour
    Mother and Child University Hospital Center CHU Sainte Justine, Universite de Montreal, Montreal, QC, Canada H3T 1C5
    Proc Natl Acad Sci U S A 109:16786-93. 2012
    ..These results suggest that host variation and its interplay with infection affect children's ability to cope with infection and suggest a polygenic model mounted at the transcriptional level for susceptibility...
  14. doi Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics
    Philip Awadalla
    Department of Pediatrics, Faculty of Medicine, Universite de Montreal, Montreal, Canada, Centre de Recherche du Centre Hospitalier Universitaire CHU Sainte Justine, Cartagene, Canada, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Canada, Department of Medicine, Faculty of Medicine, Universite de Montreal, Montreal, Canada and Centre de Recherche du Centre Hospitalier Universitaire du Québec CHUQ, Universite Laval, Quebec, Canada
    Int J Epidemiol 42:1285-99. 2013
    ..Interested researchers are encouraged to submit project proposals on the study website (www.cartagene.qc.ca)...
  15. pmc Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
    Mark E Samuels
    Centre de recherche du CHU Ste Justine, University of Montreal, Montreal, Quebec, Canada
    J Med Genet 50:324-9. 2013
    ..We had previously ascertained a cohort of patients of French-Canadian origin, most of whom were deceased as infants or in utero. The goal of the study was to identify the molecular basis for the disease in the patients of this cohort...