Andrea Oza
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Explore the profile of Andrea Oza including associated specialties, affiliations and a list of published articles.
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10
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446
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Recent Articles
1.
Perry J, Redfield S, Oza A, Rouse S, Stewart C, Khela H, et al.
Laryngoscope
. 2022 Dec;
133(9):2417-2424.
PMID: 36515421
Objectives: Genetic testing is the standard-of-care for diagnostic evaluation of bilateral, symmetric, sensorineural hearing loss (HL). We sought to determine the efficacy of a comprehensive genetic testing method, exome sequencing...
2.
Zouk H, Yu W, Oza A, Hawley M, Vijay Kumar P, Koch C, et al.
Genet Med
. 2021 Dec;
24(2):454-462.
PMID: 34906510
Purpose: The clinical genomics knowledgebase is dynamic with variant classifications changing as newly identified cases, additional population data, and other evidence become available. This is a challenge for the clinical...
3.
Lin S, Vona B, Barbalho P, Kaiyrzhanov R, Maroofian R, Petree C, et al.
Genet Med
. 2021 Jun;
23(10):1933-1943.
PMID: 34172899
Purpose: Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought...
4.
Simi A, Perry J, Schindler E, Oza A, Luo M, Hartman T, et al.
Laryngoscope
. 2021 Jun;
131(12):E2897-E2903.
PMID: 34111299
Objectives: Sensorineural hearing loss (SNHL) is a common sensory deficit affecting pediatric populations. The majority of pediatric SNHL is genetic in etiology, with over 123 identified nonsyndromic causative genes. One...
5.
Medina G, Perry J, Oza A, Kenna M
Cold Spring Harb Mol Case Stud
. 2021 May;
7(4).
PMID: 34021019
Hearing loss (HL) is the most common congenital sensory impairment. Usher syndrome (USH) is the leading genetic etiology of congenital deafness combined with progressive vision loss, and individuals presenting with...
6.
Beurg M, Schimmenti L, Koleilat A, Amr S, Oza A, Barlow A, et al.
J Neurosci
. 2021 Apr;
41(20):4378-4391.
PMID: 33824189
Transmembrane channel-like protein isoform 1 (TMC1) is a major component of the mechano-electrical transducer (MET) channel in cochlear hair cells and is subject to numerous mutations causing deafness. We report...
7.
Ambrosio L, Hansen R, Moskowitz A, Oza A, Barrett D, Manganella J, et al.
Doc Ophthalmol
. 2021 Jan;
143(1):39-51.
PMID: 33511521
Purpose: To determine the utility of ophthalmology evaluation, dark-adapted threshold, and full-field electroretinogram for early detection of Usher syndrome in young patients with bilateral sensorineural hearing loss. Methods: We identified...
8.
Laurent S, Gehrig C, Nouspikel T, Amr S, Oza A, Murphy E, et al.
Hum Mutat
. 2021 Jan;
42(4):373-377.
PMID: 33492714
Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have...
9.
Abou Tayoun A, Pesaran T, DiStefano M, Oza A, Rehm H, Biesecker L, et al.
Hum Mutat
. 2018 Sep;
39(11):1517-1524.
PMID: 30192042
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of...
10.
Almontashiri N, Alswaid A, Oza A, Al-Mazrou K, Elrehim O, Abou Tayoun A, et al.
Genet Med
. 2017 Oct;
20(5):536-544.
PMID: 29048421
PurposeHearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this population is unknown. We report the genetic...