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Nishimura, Carla J.
67
results:
Search for persons
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Online (67)
Mediatypes
Articles (Online) (37)
Bookchapter (Online) (1)
OpenAccess-fulltext (29)
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1
De novo variants are a common cause of genetic hearing loss:
Klimara, Miles J.
;
Nishimura, Carla
;
Wang, Donghong
...
Genetics in Medicine. 24 (2022) 12 - p. 2555-2567 , 2022
Link:
https://doi.org/10.1016/..
?
2
Genetic Causes of Hearing Loss in a Large Cohort of Cochlea..:
Seligman, Kristen L.
;
Shearer, A. Eliot
;
Frees, Kathy
...
Otolaryngology–Head and Neck Surgery. 166 (2021) 4 - p. 734-737 , 2021
Link:
https://doi.org/10.1177/..
?
3
A synonymous variant in MYO15A enriched in the Ashkenazi Je..:
Hirsch, Yoel
;
Tangshewinsirikul, Chayada
;
Booth, Kevin T.
...
European Journal of Human Genetics. 29 (2021) 6 - p. 988-997 , 2021
Link:
https://doi.org/10.1038/..
?
4
TSPEAR variants are primarily associated with ectodermal dy..:
Bowles, Bradley
;
Ferrer, Alejandro
;
Nishimura, Carla J.
...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2417-2433 , 2021
Link:
https://doi.org/10.1002/..
?
5
Genetic Testing for Congenital Bilateral Hearing Loss in th..:
Peterson, Joseph
;
Nishimura, Carla
;
Smith, Richard J. H.
The Laryngoscope. 130 (2020) 11 - p. 2714-2718 , 2020
Link:
https://doi.org/10.1002/..
?
6
A comparative analysis of genetic hearing loss phenotypes i..:
Walls, W. Daniel
;
Moteki, Hideaki
;
Thomas, Taylor R.
...
Human Genetics. 139 (2020) 10 - p. 1315-1323 , 2020
Link:
https://doi.org/10.1007/..
?
7
Novel loss-of-function mutations in COCH cause autosomal re..:
Booth, Kevin T.
;
Ghaffar, Amama
;
Rashid, Muhammad
...
Human Genetics. 139 (2020) 12 - p. 1565-1574 , 2020
Link:
https://doi.org/10.1007/..
?
8
Targeted broad-based genetic testing by next-generation seq..:
Mansilla, M Adela
;
Sompallae, Ramakrishna R
;
Nishimura, Carla J
...
Nephrology Dialysis Transplantation. 36 (2019) 2 - p. 295-305 , 2019
Link:
https://doi.org/10.1093/..
?
9
Genomic Landscape and Mutational Signatures of Deafness-Ass..:
Azaiez, Hela
;
Booth, Kevin T.
;
Ephraim, Sean S.
...
The American Journal of Human Genetics. 103 (2018) 4 - p. 484-497 , 2018
Link:
https://doi.org/10.1016/..
?
10
Comprehensive genetic testing in the clinical evaluation of..:
Sloan-Heggen, Christina M.
;
Bierer, Amanda O.
;
Shearer, A. Eliot
...
Human Genetics. 135 (2016) 4 - p. 441-450 , 2016
Link:
https://doi.org/10.1007/..
?
11
Copy number variants are a common cause of non-syndromic he..:
Shearer, A
;
Kolbe, Diana L
;
Azaiez, Hela
...
Genome Medicine. 6 (2014) 5 - p. 37 , 2014
Link:
https://doi.org/10.1186/..
?
12
Genome-wide copy number variation analysis of a Branchio-ot..:
Brophy, Patrick D.
;
Alasti, Fatemeh
;
Darbro, Benjamin W.
...
Human Genetics. 132 (2013) 12 - p. 1339-1350 , 2013
Link:
https://doi.org/10.1007/..
?
13
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri pat..:
Davarnia, Behzad
;
Babanejad, Mojgan
;
Fattahi, Zohreh
...
International Journal of Pediatric Otorhinolaryngology. 76 (2012) 2 - p. 268-271 , 2012
Link:
https://doi.org/10.1016/..
?
14
The spectrum of GJB2 mutations in the Iranian population wi..:
Bazazzadegan, Niloofar
;
Nikzat, Nooshin
;
Fattahi, Zohreh
...
International Journal of Pediatric Otorhinolaryngology. 76 (2012) 8 - p. 1164-1174 , 2012
Link:
https://doi.org/10.1016/..
?
15
A comprehensive study to determine heterogeneity of autosom..:
Babanejad, Mojgan
;
Fattahi, Zohreh
;
Bazazzadegan, Niloofar
...
American Journal of Medical Genetics Part A. 158A (2012) 10 - p. 2485-2492 , 2012
Link:
https://doi.org/10.1002/..
1-15