Townsend K - Search Results

1

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Röthlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM. Filges I, et al. Among authors: townsend k. Clin Genet. 2014 Sep;86(3):220-8. doi: 10.1111/cge.12301. Epub 2013 Nov 18. Clin Genet. 2014. PMID: 24128419

2

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

3

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

4

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. 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.

5

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. 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

6

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.

Bourne SC, Townsend KN, Shyr C, Matthews A, Lear SA, Attariwala R, Lehman A, Wasserman WW, van Karnebeek C, Sinclair G, Vallance H, Gibson WT. Bourne SC, et al. Cold Spring Harb Mol Case Stud. 2017 Jan;3(1):a001156. doi: 10.1101/mcs.a001156. Cold Spring Harb Mol Case Stud. 2017. PMID: 28050599 Free PMC article.

7

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, Tkachenko N, Milano V, Fradin M, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT. Cohen AS, et al. Hum Mutat. 2016 Mar;37(3):301-7. doi: 10.1002/humu.22946. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26694085 Free PMC article.

8

Markers of T cell infiltration and function associate with favorable outcome in vascularized high-grade serous ovarian carcinoma.

Townsend KN, Spowart JE, Huwait H, Eshragh S, West NR, Elrick MA, Kalloger SE, Anglesio M, Watson PH, Huntsman DG, Lum JJ. Townsend KN, et al. PLoS One. 2013 Dec 23;8(12):e82406. doi: 10.1371/journal.pone.0082406. eCollection 2013. PLoS One. 2013. PMID: 24376535 Free PMC article.

9

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

10

The autophagy protein LC3A correlates with hypoxia and is a prognostic marker of patient survival in clear cell ovarian cancer.

Spowart JE, Townsend KN, Huwait H, Eshragh S, West NR, Ries JN, Kalloger S, Anglesio M, Gorski SM, Watson PH, Gilks CB, Huntsman DG, Lum JJ. Spowart JE, et al. J Pathol. 2012 Dec;228(4):437-47. doi: 10.1002/path.4090. J Pathol. 2012. PMID: 22926683

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