Katelin N. Townsend

Vancouver, BC V5Z4H4, Canada

Last Updated: 09/26/2026

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Found 11 publications

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

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

Journal: Cold Spring Harbor molecular case studies

Published: January 05, 2017

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

Journal: American journal of medical genetics. Part A

Published: November 01, 2016

Episodic ataxia associated with a de novo SCN2A mutation.

Episodic ataxia associated with a de novo SCN2A mutation.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: November 27, 2015

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

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

Journal: Human mutation

Published: October 28, 2015

Survival of effector CD8+ T cells during influenza infection is dependent on autophagy.

Survival of effector CD8+ T cells during influenza infection is dependent on autophagy.

Journal: Journal of immunology (Baltimore, Md. : 1950)

Published: October 09, 2014

Tumor vascularity in ovarian cancer: T cells need breathing room.

Tumor vascularity in ovarian cancer: T cells need breathing room.

Journal: Oncoimmunology

Published: February 15, 2014

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Journal: American journal of medical genetics. Part A

Published: November 22, 2013

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

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

Journal: Clinical genetics

Published: August 17, 2013

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

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

Journal: PloS one

Published: May 31, 2013

Autophagy inhibition in cancer therapy: metabolic considerations for antitumor immunity.

Autophagy inhibition in cancer therapy: metabolic considerations for antitumor immunity.

Journal: Immunological reviews

Published: August 15, 2012

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

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

Journal: The Journal of pathology

Published: April 05, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026