Publications by authors named "Kathy L 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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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 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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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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