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Nishimura, Carla J.
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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