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Page 1
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. McLarren KW, et al. Among authors: nelson tn. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.
A co-occurrence of osteogenesis imperfecta type VI and cystinosis.
Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, Rauch F. Tucker T, et al. Am J Med Genet A. 2012 Jun;158A(6):1422-6. doi: 10.1002/ajmg.a.35319. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528245
CCMG statement on gene patents.
Richer J, Nelson TN, Evans J, Armstrong L, Lauzon J, McGillivray B. Richer J, et al. Among authors: nelson tn. Clin Genet. 2012 Nov;82(5):405-7. doi: 10.1111/cge.12009. Clin Genet. 2012. PMID: 23051176 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. Boycott K, et al. Among authors: nelson tn. J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7. J Med Genet. 2015. PMID: 25951830 Free PMC article.
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. Guella I, et al. Among authors: nelson tn. Neurol Genet. 2016 Nov 10;2(6):e120. doi: 10.1212/NXG.0000000000000120. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27872899 Free PMC article.
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, Németh AH. Sleven H, et al. Among authors: nelson tn. Am J Hum Genet. 2017 Jan 5;100(1):138-150. doi: 10.1016/j.ajhg.2016.11.020. Epub 2016 Dec 23. Am J Hum Genet. 2017. PMID: 28017370 Free PMC article.
55 results