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Items: 22


The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia.

Elliott AM, du Souich C, Adam S, Dragojlovic N, van Karnebeek C, Nelson TN, Lehman A; CAUSES Study, Lynd LD, Friedman JM.

Mol Genet Genomic Med. 2018 May 30. doi: 10.1002/mgg3.410. [Epub ahead of print]


Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.

Armour CM, Dougan SD, Brock JA, Chari R, Chodirker BN, DeBie I, Evans JA, Gibson WT, Kolomietz E, Nelson TN, Tihy F, Thomas MA, Stavropoulos DJ; On-Behalf-Of the Canadian College of Medical Geneticists.

J Med Genet. 2018 Apr;55(4):215-221. doi: 10.1136/jmedgenet-2017-105013. Epub 2018 Mar 1.


The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

Dragojlovic N, Elliott AM, Adam S, van Karnebeek C, Lehman A, Mwenifumbo JC, Nelson TN, du Souich C, Friedman JM, Lynd LD.

Genet Med. 2018 Sep;20(9):1013-1021. doi: 10.1038/gim.2017.226. Epub 2018 Jan 4. Review.


Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question.

Goh E, Guerin A, Lazier J, Goobie S, Nelson TN, Agatep R, Siu VM, Niederhoffer KY, Richer J.

J Med Genet. 2018 Feb;55(2):86-88. doi: 10.1136/jmedgenet-2017-104924. Epub 2017 Aug 19. No abstract available.


An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M.

Pediatr Neurol. 2017 Oct;75:87-90. doi: 10.1016/j.pediatrneurol.2017.06.003. Epub 2017 Jun 8.


De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN; Deciphering Developmental Disorders study; CAUSES study, Williams J, Clouston P, Hagman J, NĂ©meth AH.

Am J Hum Genet. 2017 Jan 5;100(1):138-150. doi: 10.1016/j.ajhg.2016.11.020. Epub 2016 Dec 23.


De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M.

Neurol Genet. 2016 Nov 10;2(6):e120. eCollection 2016 Dec.


Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.

Tucker T, Steinraths M, Oh T, Nelson TN, Van Allen MI, Brown L, Schlade-Bartusiak K.

Clin Dysmorphol. 2016 Apr;25(2):77-81. doi: 10.1097/MCD.0000000000000108. No abstract available.


The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists.

J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7.


CCMG statement on gene patents.

Richer J, Nelson TN, Evans J, Armstrong L, Lauzon J, McGillivray B.

Clin Genet. 2012 Nov;82(5):405-7. doi: 10.1111/cge.12009. No abstract available.


Uniparental disomy: can SNP array data be used for diagnosis?

Tucker T, Schlade-Bartusiak K, Eydoux P, Nelson TN, Brown L.

Genet Med. 2012 Apr 26. doi: 10.1038/gim.2012.35. [Epub ahead of print]


CCMG statement on direct-to-consumer genetic testing.

CCMG Ethics and Public Policy Committee, Nelson TN, Armstrong L, Richer J, Evans J, Lauzon J, McGillivray B, Bruyere H, Dougan S.

Clin Genet. 2012 Jan;81(1):1-3. doi: 10.1111/j.1399-0004.2011.01789.x. Epub 2011 Nov 10. No abstract available.


Alpha1-antitrypsin deficiency: a clinical-genetic overview.

Abboud RT, Nelson TN, Jung B, Mattman A.

Appl Clin Genet. 2011 Mar 31;4:55-65. doi: 10.2147/TACG.S10604. Print 2011.


Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF.

Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004.


Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.

du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF.

Am J Med Genet A. 2009 Nov;149A(11):2469-78. doi: 10.1002/ajmg.a.33071.


A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.

Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L.

Mov Disord. 2009 Apr 15;24(5):778-82. doi: 10.1002/mds.22467.


Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.

Schrader KA, Nelson TN, De Luca A, Huntsman DG, McGillivray BC.

Clin Genet. 2009 Feb;75(2):185-9. doi: 10.1111/j.1399-0004.2008.01100.x. Epub 2008 Nov 27.


Fine specificity of drug-dependent antibodies reactive with a restricted domain of platelet GPIIIA.

Peterson JA, Nelson TN, Kanack AJ, Aster RH.

Blood. 2008 Feb 1;111(3):1234-9. Epub 2007 Oct 24.


Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12.

Schrader KA, Nelson TN, McFadden DE, Pantzar T, Langlois S.

Am J Med Genet A. 2007 Aug 1;143A(15):1806-8. No abstract available.


V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.

Huculak C, Bruyere H, Nelson TN, Kozak FK, Langlois S.

Am J Med Genet A. 2006 Nov 15;140(22):2394-400.


Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion.

Hewitt J, Ballard JN, Nelson TN, Smith VC, Griffiths TA, Pritchard S, Wu JK, Wadsworth LD, Casey B, MacGillivray RT.

Br J Haematol. 2005 Feb;128(3):380-5.


Stage-specific expression in Leishmania conferred by 3' untranslated regions of L. major leishmanolysin genes (GP63).

Kelly BL, Nelson TN, McMaster WR.

Mol Biochem Parasitol. 2001 Aug;116(1):101-4. No abstract available.


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