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Page 1
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16. J Med Genet. 2021. PMID: 32546566
Episodic ataxia associated with a de novo SCN2A mutation.
Leach EL, van Karnebeek CD, Townsend KN, Tarailo-Graovac M, Hukin J, Gibson WT. Leach EL, et al. Among authors: townsend kn. Eur J Paediatr Neurol. 2016 Sep;20(5):772-6. doi: 10.1016/j.ejpn.2016.05.020. Epub 2016 Jun 14. Eur J Paediatr Neurol. 2016. PMID: 27328862
Tumor vascularity in ovarian cancer: T cells need breathing room.
Neilson D, MacPherson S, Townsend KN, Lum JJ. Neilson D, et al. Among authors: townsend kn. Oncoimmunology. 2014 Apr 8;3:e28272. doi: 10.4161/onci.28272. eCollection 2014. Oncoimmunology. 2014. PMID: 25050200 Free PMC article.
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT. Cohen AS, et al. Among authors: townsend kn. Am J Med Genet A. 2014 Sep;164A(9):2360-4. doi: 10.1002/ajmg.a.36622. Epub 2014 Jun 5. Am J Med Genet A. 2014. PMID: 24903541 Free article.
Survival of effector CD8+ T cells during influenza infection is dependent on autophagy.
Schlie K, Westerback A, DeVorkin L, Hughson LR, Brandon JM, MacPherson S, Gadawski I, Townsend KN, Poon VI, Elrick MA, Côté HC, Abraham N, Wherry EJ, Mizushima N, Lum JJ. Schlie K, et al. Among authors: townsend kn. J Immunol. 2015 May 1;194(9):4277-86. doi: 10.4049/jimmunol.1402571. Epub 2015 Apr 1. J Immunol. 2015. PMID: 25833396
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium; Friedman JM, Gibson WT, Horvath GA. Thibodeau ML, et al. Among authors: townsend kn. Am J Med Genet A. 2017 Nov;173(11):3087-3092. doi: 10.1002/ajmg.a.38400. Epub 2017 Sep 12. Am J Med Genet A. 2017. PMID: 28898540
13 results