Publications by authors named "Farah Zahir"

19Publications

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.

Am J Med Genet A 2016 11;170(11):2916-2926

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37669DOI Listing
November 2016

Use of Affymetrix Arrays in the Diagnosis of Gene Copy-Number Variation.

Curr Protoc Hum Genet 2015 Apr 1;85:8.13.1-8.13.13. Epub 2015 Apr 1.

Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/0471142905.hg0813s85DOI Listing
April 2015

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Eur J Hum Genet 2014 Jun 20;22(6):792-800. Epub 2013 Nov 20.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Child & Family Research Institute, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023222PMC
June 2014

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.

Am J Med Genet A 2012 Oct 17;158A(10):2606-9. Epub 2012 Aug 17.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35568DOI Listing
October 2012

Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action.

Pediatr Res 2011 May;69(5 Pt 2):92R-100R

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6H 3N1, Canada.

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http://dx.doi.org/10.1203/PDR.0b013e318213565eDOI Listing
May 2011

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

Eur J Med Genet 2009 Nov-Dec;52(6):436-9. Epub 2009 Sep 17.

Department of Medical Genetics, University of British Columbia, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2009.09.006DOI Listing
February 2010

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.

Am J Med Genet A 2009 Jun;149A(6):1257-62

Department of Medical Genetics, University of British Columbia, Children's and Women's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32827DOI Listing
June 2009