Zahir FR - Search Results

1

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

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium; Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB. Enns GM, et al. Among authors: zahir fr. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Genet Med. 2014. PMID: 24651605 Free PMC article.

2

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

Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM, Zahir FR. Tsang E, et al. Among authors: zahir fr. Am J Med Genet A. 2012 Oct;158A(10):2606-9. doi: 10.1002/ajmg.a.35568. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903878

3

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

Zahir FR, Langlois S, Gall K, Eydoux P, Marra MA, Friedman JM. Zahir FR, et al. Am J Med Genet A. 2009 Jun;149A(6):1257-62. doi: 10.1002/ajmg.a.32827. Am J Med Genet A. 2009. PMID: 19449402

4

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

Zahir F, Friedman JM. Zahir F, et al. Clin Genet. 2007 Oct;72(4):271-87. doi: 10.1111/j.1399-0004.2007.00847.x. Clin Genet. 2007. PMID: 17850622 Review.

5

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM. Zahir F, et al. J Med Genet. 2007 Sep;44(9):556-61. doi: 10.1136/jmg.2007.050823. Epub 2007 Jun 1. J Med Genet. 2007. PMID: 17545556 Free PMC article.

6

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

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: zahir fr. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.

7

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

Zahir FR, Tucker T, Mayo S, Brown CJ, Lim EL, Taylor J, Marra MA, Hamdan FF, Michaud JL, Friedman JM. Zahir FR, et al. Am J Med Genet A. 2016 Nov;170(11):2916-2926. doi: 10.1002/ajmg.a.37669. Am J Med Genet A. 2016. PMID: 27748065

8

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.

Yasin H, Gibson WT, Langlois S, Stowe RM, Tsang ES, Lee L, Poon J, Tran G, Tyson C, Wong CK, Marra MA, Friedman JM, Zahir FR. Yasin H, et al. Among authors: zahir fr. J Hum Genet. 2019 Apr;64(4):271-280. doi: 10.1038/s10038-019-0561-0. Epub 2019 Jan 22. J Hum Genet. 2019. PMID: 30670789

9

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

Lehman AM, Friedman JM, Chai D, Zahir FR, Marra MA, Prisman L, Tsang E, Eydoux P, Armstrong L. Lehman AM, et al. Among authors: zahir fr. Eur J Med Genet. 2009 Nov-Dec;52(6):436-9. doi: 10.1016/j.ejmg.2009.09.006. Epub 2009 Sep 17. Eur J Med Genet. 2009. PMID: 19772954

10

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

Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM. Tucker T, et al. Among authors: zahir fr. Eur J Hum Genet. 2014 Jun;22(6):792-800. doi: 10.1038/ejhg.2013.248. Epub 2013 Nov 20. Eur J Hum Genet. 2014. PMID: 24253858 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

30 results

Search Page