Friedman JM - Search Results

1

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. Among authors: friedman jm. 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

2

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14.

Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, Fagerstrom C, Anadiotis G, Kingsbury D, McGillivray BC, Marra MA, Friedman JM, Speleman F, Mortier G. Menten B, et al. Among authors: friedman jm. J Med Genet. 2007 Apr;44(4):264-8. doi: 10.1136/jmg.2006.047860. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220210 Free PMC article.

3

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. Among authors: friedman jm. 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.

4

Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation.

Delaney AD, Qian H, Friedman JM, Marra MA. Delaney AD, et al. Among authors: friedman jm. Curr Protoc Hum Genet. 2008 Oct;Chapter 8:Unit 8.13. doi: 10.1002/0471142905.hg0813s59. Curr Protoc Hum Genet. 2008. PMID: 18972373

5

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. Among authors: friedman jm. 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

6

Massively parallel sequencing: the next big thing in genetic medicine.

Tucker T, Marra M, Friedman JM. Tucker T, et al. Among authors: friedman jm. Am J Hum Genet. 2009 Aug;85(2):142-54. doi: 10.1016/j.ajhg.2009.06.022. Am J Hum Genet. 2009. PMID: 19679224 Free PMC article. Review.

7

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: friedman jm. 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

8

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.

Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Thienpont B, et al. Among authors: friedman jm. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573. Epub 2009 Oct 14. J Med Genet. 2010. PMID: 19833603

9

Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID.

Makela NL, Birch PH, Friedman JM, Marra CA. Makela NL, et al. Among authors: friedman jm. Am J Med Genet A. 2009 Nov;149A(11):2393-402. doi: 10.1002/ajmg.a.33050. Am J Med Genet A. 2009. PMID: 19842198

10

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.

Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra M, Qian H, Rouleau GA, Vincent D, Michaud JL, Friedman JM. Tucker T, et al. Among authors: friedman jm. BMC Med Genomics. 2011 Mar 25;4:25. doi: 10.1186/1755-8794-4-25. BMC Med Genomics. 2011. PMID: 21439053 Free PMC article.

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