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Fingerprint Dive into the research topics where Farah Tania Zahir is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 21 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Nucleic Acid Hybridization Medicine & Life Sciences
Genes Medicine & Life Sciences
Genome Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Deafness Medicine & Life Sciences
Microarray Analysis Medicine & Life Sciences
Epigenomics Medicine & Life Sciences

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Research Output 2006 2016

  • 816 Citations
  • 12 h-Index
  • 14 Article
  • 2 Review article
2 Citations (Scopus)

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

Zahir, F. R., Tucker, T., Mayo, S., Brown, C. J., Lim, E. L., Taylor, J., Marra, M. A., Hamdan, F. F., Michaud, J. L. & Friedman, J. M., 1 Nov 2016, In : American Journal of Medical Genetics, Part A. 170, 11, p. 2916-2926 11 p.

Research output: Contribution to journalArticle

Regulator Genes
Epigenomics
Intellectual Disability
Exons
Genes
140 Citations (Scopus)

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care

Sawyer, S. L., Hartley, T., Dyment, D. A., Beaulieu, C. L., Schwartzentruber, J., Smith, A., Bedford, H. M., Bernard, G., Bernier, F. P., Brais, B., Bulman, D. E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B. A., Frosk, P., Geraghty, M. T., Gerull, B., Gibson, W., Gow, R. M. & 27 others, Graham, G. E., Green, J. S., Heon, E., Horvath, G., Innes, A. M., Jabado, N., Kim, R. H., Koenekoop, R. K., Khan, A., Lehmann, O. J., Mendoza-Londono, R., Michaud, J. L., Nikkel, S. M., Penney, L. S., Polychronakos, C., Richer, J., Rouleau, G. A., Samuels, M. E., Siu, V. M., Suchowersky, O., Tarnopolsky, M. A., Yoon, G., Zahir, F. R., Majewski, J., Boycott, K. M., FORGE Canada Consortium & Care4Rare Canada Consortium, 1 Mar 2016, In : Clinical Genetics. 89, 3, p. 275-284 10 p.

Research output: Contribution to journalReview article

Exome
Rare Diseases
Inborn Genetic Diseases
Genes
Mutation
5 Citations (Scopus)

Use of Affymetrix arrays in the diagnosis of gene copy-number variation

Zahir, F. R. & Marra, M. A., 2015, In : Current Protocols in Human Genetics. 2015, p. 8.13.1-8.13.13

Research output: Contribution to journalArticle

Gene Dosage
Single Nucleotide Polymorphism
Oligonucleotide Probes
Oligonucleotide Array Sequence Analysis
Sequence Analysis
77 Citations (Scopus)

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., Crimian, R., Schoch, K., Platt, J., Cox, R., Bernstein, J. A., Scavina, M., Walter, R. S., Bibb, A., Jones, M., Hegde, M., Graham, B. H., Need, A. C., Oviedo, A., Schaaf, C. P. & 14 others, Boyle, S., Butte, A. J., Chen, R., Clark, M. J., Haraksingh, R., Cowan, T. M., He, P., Langlois, S., Zoghbi, H. Y., Snyder, M., Gibbs, R. A., Freeze, H. H., Goldstein, D. B. & FORGE Canada Consortium, 1 Oct 2014, In : Genetics in medicine : official journal of the American College of Medical Genetics. 16, 10, p. 751-758 8 p.

Research output: Contribution to journalArticle

Endoplasmic Reticulum-Associated Degradation
Nonsense Codon
Mutation
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
Exome
22 Citations (Scopus)

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

Tucker, T., Zahir, F. R., Griffith, M., Delaney, A., Chai, D., Tsang, E., Lemyre, E., Dobrzeniecka, S., Marra, M., Eydoux, P., Langlois, S., Hamdan, F. F., Michaud, J. L. & Friedman, J. M., 2014, In : European Journal of Human Genetics. 22, 6, p. 792-800 9 p.

Research output: Contribution to journalArticle

Microarray Analysis
Intellectual Disability
Exons
Genes
Glutamate Receptors