Affiliation: University of British Columbia
- Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridizationJm 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...
- Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three childrenFarah Zahir
Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, Canada
J Med Genet 44:556-61. 2007..All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip and similar auricular anomalies...
- The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utilityF 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...
- A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomaliesFarah 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...
- Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of actionFarah 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...
- Oligonucleotide microarray analysis of genomic imbalance in children with mental retardationJ 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...
- Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14Bjorn 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...