Farah Zahir

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. ncbi Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
    Jm Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    BMC Genomics 10:526. 2009
  2. ncbi Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
    Farah Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, Canada
    J Med Genet 44:556-61. 2007
  3. ncbi The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
    F Zahir
    Department of Medical Genetics, University of British Columbia Children s and Women s Hospital, 4500 Oak Street, Vancouver, BC, Canada
    Clin Genet 72:271-87. 2007
  4. ncbi A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
    Farah R Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, British Columbia, Canada
    Am J Med Genet A 149:1257-62. 2009
  5. ncbi Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action
    Farah R Zahir
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6H 3N1, Canada
    Pediatr Res 69:92R-100R. 2011
  6. ncbi Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Hum Genet 79:500-13. 2006
  7. ncbi Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
    Bjorn Menten
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Med Genet 44:264-8. 2007

Detail Information

Publications7

  1. ncbi Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
    Jm Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    BMC Genomics 10:526. 2009
    ..However, there is no agreement regarding the kind of array, the distribution of probes across the genome, or the resolution that is most appropriate for clinical use...
  2. ncbi Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
    Farah Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, Canada
    J Med Genet 44:556-61. 2007
    ..The non-recurrent breakpoints of these patients, the presence of normal copy number variants in the region and the local genomic structure support the notion that this region has reduced stability...
  3. ncbi The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
    F Zahir
    Department of Medical Genetics, University of British Columbia Children s and Women s Hospital, 4500 Oak Street, Vancouver, BC, Canada
    Clin Genet 72:271-87. 2007
    ..Whole-genome AGH studies are a maturing technology, but their high diagnostic utility assures their increasing use in clinical genetics...
  4. ncbi A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
    Farah R Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, British Columbia, Canada
    Am J Med Genet A 149:1257-62. 2009
    ..1). The patient has microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype...
  5. ncbi Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action
    Farah R Zahir
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6H 3N1, Canada
    Pediatr Res 69:92R-100R. 2011
    ..This review aims to provide an overview of the role of epigenetic deregulation in the etiopathology for neurodevelopment disease...
  6. ncbi Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Hum Genet 79:500-13. 2006
    ..This technology can detect at least twice as many potentially pathogenic de novo copy-number variants as conventional cytogenetic analysis can in people with mental retardation...
  7. ncbi Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
    Bjorn Menten
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    J Med Genet 44:264-8. 2007
    ..The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities...