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Year Number of Results
2011 1
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2013 1
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2015 1
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2017 3
2020 1
2021 1
2024 0

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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
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.
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
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study; Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T. Lehman A, et al. Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29. Am J Hum Genet. 2017. PMID: 28669405 Free PMC 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
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.
13 results