• 839 Citations
  • 12 h-Index
20062016

Research output per year

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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.

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Research Output

  • 839 Citations
  • 12 h-Index
  • 14 Article
  • 2 Review article

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

  • 4 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

  • 147 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

  • 5 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

  • 83 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

  • 23 Citations (Scopus)