Kathy Frees
Overview
Explore the profile of Kathy Frees including associated specialties, affiliations and a list of published articles.
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12
Citations
360
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Recent Articles
1.
Seligman K, Shearer A, Frees K, Nishimura C, Kolbe D, Dunn C, et al.
Otolaryngol Head Neck Surg
. 2021 Jun;
166(4):734-737.
PMID: 34154485
Understanding genetic causes of hearing loss can determine the pattern and course of a patient's hearing loss and may also predict outcomes after cochlear implantation. Our goal in this study...
2.
Hirsch Y, Tangshewinsirikul C, Booth K, Azaiez H, Yefet D, Quint A, et al.
Eur J Hum Genet
. 2021 Jan;
29(6):988-997.
PMID: 33398081
Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not...
3.
Booth K, Ghaffar A, Rashid M, Hovey L, Hussain M, Frees K, et al.
Hum Genet
. 2020 Jun;
139(12):1565-1574.
PMID: 32562050
COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations...
4.
Bu F, Zhang Y, Wang K, Ghiringhelli Borsa N, Jones M, Taylor A, et al.
J Am Soc Nephrol
. 2018 Nov;
29(12):2809-2819.
PMID: 30377230
Background: Genetic variation in complement genes is a predisposing factor for atypical hemolytic uremic syndrome (aHUS), a life-threatening thrombotic microangiopathy, however interpreting the effects of genetic variants is challenging and...
5.
Shearer A, Frees K, Kolbe D, Smith R
Otolaryngol Head Neck Surg
. 2018 Aug;
159(6):1058-1060.
PMID: 30149782
Comprehensive genetic testing has become integral in the evaluation of children with deafness, but the amount of blood required to obtain DNA can be prohibitive in newborns. Dried blood spots...
6.
Booth K, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, et al.
Hum Mutat
. 2017 Dec;
39(3):433-440.
PMID: 29266521
Dysregulation of splicing is a common factor underlying many inherited diseases including deafness. For one deafness-associated gene, DFNA5, perturbation of exon 8 splicing results in a constitutively active truncated protein....
7.
Shearer A, Eppsteiner R, Frees K, Tejani V, Sloan-Heggen C, Brown C, et al.
Hear Res
. 2017 Feb;
348:138-142.
PMID: 28213135
Background: Cochlear implantation is an effective habilitation modality for adults with significant hearing loss. However, post-implant performance is variable. A portion of this variance in outcome can be attributed to...
8.
Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan-Heggen C, et al.
Arch Iran Med
. 2016 Oct;
19(10):720-728.
PMID: 27743438
A significant contribution to the causes of hereditary hearing impairment comes from genetic factors. More than 120 genes and 160 loci have been identified to be involved in hearing impairment....
9.
Bu F, Ghiringhelli Borsa N, Jones M, Takanami E, Nishimura C, Hauer J, et al.
J Am Soc Nephrol
. 2015 Aug;
27(4):1245-53.
PMID: 26283675
The thrombotic microangiopathies (TMAs) and C3 glomerulopathies (C3Gs) include a spectrum of rare diseases such as atypical hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, C3GN, and dense deposit disease, which share...
10.
Crovetto F, Borsa N, Acaia B, Nishimura C, Frees K, Smith R, et al.
J Matern Fetal Neonatal Med
. 2012 May;
25(11):2322-5.
PMID: 22594569
Objective: Recent preliminary evidence suggests that gene mutations in the alternative pathway of complement may play a crucial role in the pathogenesis of HELLP syndrome. To verify this hypothesis, a...