Publications by authors named "Kathy Frees"

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De novo variants are a common cause of genetic hearing loss.
Miles J Klimara, Carla Nishimura, Donghong Wang, Diana L Kolbe, Amanda M Schaefer, Kathy L Frees

Genet Med· December 2022

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Genetic Causes of Hearing Loss in a Large Cohort of Cochlear Implant Recipients.
Kristen L Seligman, A Eliot Shearer, Kathy Frees, Carla Nishimura, Diana Kolbe

Otolaryngol Head Neck Surg· April 2022

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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, Hela Azaiez, Devorah Yefet, Kathy Frees

Eur J Hum Genet· June 2021

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Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Kevin T Booth, Amama Ghaffar, Muhammad Rashid, Luke T Hovey, Mureed Hussain, Kathy Frees

Hum Genet· December 2020

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A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
W Daniel Walls, Hideaki Moteki, Taylor R Thomas, Shin-Ya Nishio, Hidekane Yoshimura, Kathy L Frees

Hum Genet· October 2020

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Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Heather A Stiff, Christina M Sloan-Heggen, Ashley Ko, Wanda L Pfeifer, Diana L Kolbe, Kathy L Frees

Ophthalmic Genet· April 2020

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Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots.
A Eliot Shearer, Kathy Frees, Diana L Kolbe, Richard J H Smith

Otolaryngol Head Neck Surg· December 2018

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Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
Fengxiao Bu, Yuzhou Zhang, Kai Wang, Nicolo Ghiringhelli Borsa, Michael B Jones, Kathy Frees

J Am Soc Nephrol· December 2018

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Exonic mutations and exon skipping: Lessons learned from DFNA5.
Kevin T Booth, Hela Azaiez, Kimia Kahrizi, Donghong Wang, Yuzhou Zhang, Kathy Frees

Hum Mutat· March 2018

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Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance.
A Eliot Shearer, Robert W Eppsteiner, Kathy Frees, Viral Tejani, Christina M Sloan-Heggen

Hear Res· May 2017

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Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
Maryam Beheshtian, Mojgan Babanejad, Hela Azaiez, Niloofar Bazazzadegan, Diana Kolbe, Kathy Frees

Arch Iran Med· October 2016

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High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.
Fengxiao Bu, Nicolo Ghiringhelli Borsa, Michael B Jones, Erika Takanami, Carla Nishimura, Kathy Frees

J Am Soc Nephrol· April 2016

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Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Christina M Sloan-Heggen, Amanda O Bierer, A Eliot Shearer, Diana L Kolbe, Carla J Nishimura, Kathy L Frees

Hum Genet· April 2016

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Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, Allen C Simpson, Kevin T Booth, Kathy L Frees

J Med Genet· December 2015

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Copy number variants are a common cause of non-syndromic hearing loss.
A Eliot Shearer, Diana L Kolbe, Hela Azaiez, Christina M Sloan, Kathy L Frees

Genome Med· June 2014

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The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.
Francesca Crovetto, Nicolò Borsa, Barbara Acaia, Carla Nishimura, Kathy Frees

J Matern Fetal Neonatal Med· November 2012

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Causes of alternative pathway dysregulation in dense deposit disease.
Yuzhou Zhang, Nicole C Meyer, Kai Wang, Carla Nishimura, Kathy Frees

Clin J Am Soc Nephrol· February 2012

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Allelic variants of complement genes associated with dense deposit disease.
Maria Asuncion Abrera-Abeleda, Carla Nishimura, Kathy Frees, Michael Jones, Tara Maga

J Am Soc Nephrol· August 2011

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Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
Tara K Maga, Carla J Nishimura, Amy E Weaver, Kathy L Frees, Richard J H Smith

Hum Mutat· June 2010

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Relevance of mutations in the TLR4 receptor in patients with gram-negative septic shock.
Eva Lorenz, Jean Paul Mira, Kathy L Frees, David A Schwartz

Arch Intern Med· May 2002

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