Carla Nishimura
Overview
Explore the profile of Carla Nishimura including associated specialties, affiliations and a list of published articles.
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23
Citations
632
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Recent Articles
1.
Klimara M, Nishimura C, Wang D, Kolbe D, Schaefer A, Walls W, et al.
Genet Med
. 2022 Oct;
24(12):2555-2567.
PMID: 36194208
Purpose: De novo variants (DNVs) are a well-recognized cause of genetic disorders. The contribution of DNVs to hearing loss (HL) is poorly characterized. We aimed to evaluate the rate of...
2.
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...
3.
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...
4.
Peterson J, Nishimura C, Smith R
Laryngoscope
. 2020 Jan;
130(11):2714-2718.
PMID: 31985074
Objectives/hypothesis: To determine the prevalence of children with genetic hearing loss who are cytomegalovirus (CMV) positive at birth and the relative proportion of genetic and CMV etiology among children with...
5.
Azaiez H, Booth K, Ephraim S, Crone B, Black-Ziegelbein E, Marini R, et al.
Am J Hum Genet
. 2018 Sep;
103(4):484-497.
PMID: 30245029
The classification of genetic variants represents a major challenge in the post-genome era by virtue of their extraordinary number and the complexities associated with ascribing a clinical impact, especially for...
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.
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...
8.
Brophy P, Alasti F, Darbro B, Clarke J, Nishimura C, Cobb B, et al.
Hum Genet
. 2013 Jul;
132(12):1339-50.
PMID: 23851940
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial arch anomalies, hearing loss and renal dysmorphology. Although haploinsufficiency of EYA1 and SIX1 are known to cause BOR, copy...
9.
Babanejad M, Fattahi Z, Bazazzadegan N, Nishimura C, Meyer N, Nikzat N, et al.
Am J Med Genet A
. 2012 Aug;
158A(10):2485-92.
PMID: 22903915
Hearing loss is the most common sensory disorder worldwide and affects 1 of every 500 newborns. In developed countries, at least 50% of cases are genetic, most often resulting in...
10.
Bazazzadegan N, Nikzat N, Fattahi Z, Nishimura C, Meyer N, Sahraian S, et al.
Int J Pediatr Otorhinolaryngol
. 2012 Jun;
76(8):1164-74.
PMID: 22695344
Objective: Mutations in GJB2, encoding connexin 26 (CX26), are causally related to autosomal recessive form of non-syndromic hearing loss (NSHL) at the DFNB1 locus and autosomal dominant NSHL at the...