HuGE Literature Finder
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| De novo variants are a common cause of genetic hearing loss. Genetics in medicine : official journal of the American College of Medical Genetics 2022 Oct . Klimara Miles J, Nishimura Carla, Wang Donghong, Kolbe Diana L, Schaefer Amanda M, Walls William D, Frees Kathy L, Smith Richard J H, Azaiez He |
| Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Scientific reports 2022 1 12 (1): 634. Nishio Shin-Ya, Usami Shin-Ic |
| Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar . Kim Bong Jik, Oh Doo-Yi, Han Jin Hee, Oh Jayoung, Kim Min Young, Park Hye-Rim, Seok Jungirl, Cho Sung-Dong, Lee Sang-Yeon, Kim Yoonjoong, Carandang Marge, Kwon In Sun, Lee Seungmin, Jang Jeong Hun, Choung Yun-Hoon, Lee Sejoon, Lee Hakmin, Hwang Sang Mee, Choi Byung Yo |
| Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations. Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
| Frequency and clinical features of hearing loss caused by STRC deletions. Scientific reports 2019 Mar 9 (1): 4408. Yokota Yoh, Moteki Hideaki, Nishio Shin-Ya, Yamaguchi Tomomi, Wakui Keiko, Kobayashi Yumiko, Ohyama Kenji, Miyazaki Hiromitsu, Matsuoka Rina, Abe Satoko, Kumakawa Kozo, Takahashi Masahiro, Sakaguchi Hirofumi, Uehara Natsumi, Ishino Takashi, Kosho Tomoki, Fukushima Yoshimitsu, Usami Shin-Ic |
| STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population. Genetic testing and molecular biomarkers 2018 Feb 22 (2): 127-134. Marková Simona Poisson, Brožková Dana Šafka, Laššuthová Petra, Mészárosová Anna, Kr?tová Marcela, Neupauerová Jana, Rašková Dagmar, Trková Marie, Stan?k David, Seeman Pav |
| Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin. Clinical chemistry 2018 04 64 (4): 705-714. Amr Sami S, Murphy Elissa, Duffy Elizabeth, Niazi Rojeen, Balciuniene Jorune, Luo Minjie, Rehm Heidi L, Abou Tayoun Ahmad |
| Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. Clinical genetics 2015 Sep . Moteki Hideaki, Azaiez Hela, Booth Kevin T, Shearer A Eliot, Sloan Christina M, Kolbe Diana L, Nishio Shin-Ya, Hattori Mitsuru, Usami Shin-Ichi, Smith Richard J |
| Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clinical genetics 2015 Jun 87 (6): 588-93. Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li |
| DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics. Clinical genetics 2015 87 (1): 49-55. Vona B, Hofrichter M A H, Neuner C, Schröder J, Gehrig A, Hennermann J B, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf |
| Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. Genetic testing and molecular biomarkers 2014 Sep 18 (9): 658-61. Bademci Guney, Diaz-Horta Oscar, Guo Shengru, Duman Duygu, Van Booven Derek, Foster Joseph, Cengiz Filiz Basak, Blanton Susan, Tekin Musta |
| Copy number variants are a common cause of non-syndromic hearing loss. Genome medicine 2014 6 (5): 37. Shearer A Eliot, Kolbe Diana L, Azaiez Hela, Sloan Christina M, Frees Kathy L, Weaver Amy E, Clark Erika T, Nishimura Carla J, Black-Ziegelbein E Ann, Smith Richard J |
| Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC genomics 2014 15 (1): 1155. Haraksingh Rajini R, Jahanbani Fereshteh, Rodriguez-Paris Juan, Gelernter Joel, Nadeau Kari C, Oghalai John S, Schrijver Iris, Snyder Michael |
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- Page last updated:Jan 27, 2023
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