Publications by authors named "Kathie Ngo"

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Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Kathie J Ngo, Darice Y Wong, Alden Y Huang, Hane Lee, Stanley F Nelson

Mol Med· May 2025

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Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.
Sonya Watson, Kathie J Ngo, Hannah A Stevens, Darice Y Wong, Jihye Kim

Neurol Genet· June 2024

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Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Kathie J Ngo, Kimberly C Paul, Darice Wong, Cynthia D J Kusters, Jeff M Bronstein

NPJ Parkinsons Dis· April 2024

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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Haloom Rafehi, Justin Read, David J Szmulewicz, Kayli C Davies, Penny Snell, Kathie J Ngo

Am J Hum Genet· June 2023

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Alterations in oligodendrocyte transcriptional networks reveal region-specific vulnerabilities to neurological disease.
Dario Tommasini, Rachel Fox, Kathie J Ngo, Jason D Hinman, Brent L Fogel

iScience· April 2023

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Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report.
Niharika Duggirala, Kathie J Ngo, Sabrina M Pagnoni, Alberto L Rosa, Brent L Fogel

J Med Case Rep· April 2023

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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Haloom Rafehi, Justin Read, David J Szmulewicz, Kayli C Davies, Penny Snell, Kathie J Ngo

Am J Hum Genet· January 2023

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Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson's Disease Cohorts.
Jodi Maple-Grødem, Kimberly C Paul, Ingvild Dalen, Kathie J Ngo, Darice Wong

J Parkinsons Dis· December 2021

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De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Aristides Hadjinicolaou, Kathie J Ngo, Daniel Y Conway, John P Provias, Steven K Baker

Acta Neuropathol Commun· December 2021

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A TILLING by sequencing approach to identify induced mutations in sunflower genes.
Valentina Fanelli, Kathie J Ngo, Veronica L Thompson, Brennan R Silva, Helen Tsai

Sci Rep· May 2021

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miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy.
Jason D Hinman, Kathie J Ngo, Deborah Kim, Cidi Chen, Carmela R Abraham

Hum Mol Genet· March 2021

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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Kathie J Ngo, Jessica E Rexach, Hane Lee, Lauren E Petty, Susan Perlman

Hum Mutat· February 2020

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Spinocerebellar Ataxia type 29 in a family of Māori descent.
Kathie J Ngo, Gemma Poke, Katherine Neas, Brent L Fogel

Cerebellum Ataxias· October 2019

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Expanding the global prevalence of spinocerebellar ataxia type 42.
Kathie Ngo, Mamdouh Aker, Lauren E Petty, Jason Chen, Francesca Cavalcanti

Neurol Genet· June 2018

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Perturbation of parentally biased gene expression during interspecific hybridization.
Diana Burkart-Waco, Kathie Ngo, Meric Lieberman, Luca Comai

PLoS One· January 2016

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Tilling by sequencing.
Helen Tsai, Kathie Ngo, Meric Lieberman, Victor Missirian, Luca Comai

Methods Mol Biol· November 2015

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Efficient Genome-Wide Detection and Cataloging of EMS-Induced Mutations Using Exome Capture and Next-Generation Sequencing.
Isabelle M Henry, Ugrappa Nagalakshmi, Meric C Lieberman, Kathie J Ngo, Ksenia V Krasileva

Plant Cell· April 2014

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Early disruption of maternal-zygotic interaction and activation of defense-like responses in Arabidopsis interspecific crosses.
Diana Burkart-Waco, Kathie Ngo, Brian Dilkes, Caroline Josefsson, Luca Comai

Plant Cell· June 2013

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Production of a high-efficiency TILLING population through polyploidization.
Helen Tsai, Victor Missirian, Kathie J Ngo, Robert K Tran, Simon R Chan

Plant Physiol· April 2013

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Discovery of rare mutations in populations: TILLING by sequencing.
Helen Tsai, Tyson Howell, Rebecca Nitcher, Victor Missirian, Brian Watson, Kathie J Ngo

Plant Physiol· July 2011

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