HuGE Literature Finder
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| Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
| 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 |
| Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
| A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. European journal of human genetics : EJHG 2015 Oct 23 (10): 1318-27. Lenassi Eva, Vincent Ajoy, Li Zheng, Saihan Zubin, Coffey Alison J, Steele-Stallard Heather B, Moore Anthony T, Steel Karen P, Luxon Linda M, Héon Elise, Bitner-Glindzicz Maria, Webster Andrew |
| 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 |
| Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
| Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. Molecular genetics & genomic medicine 2014 Sep 2 (5): 393-401. Krawitz Peter M, Schiska Daniela, Krüger Ulrike, Appelt Sandra, Heinrich Verena, Parkhomchuk Dmitri, Timmermann Bernd, Millan Jose M, Robinson Peter N, Mundlos Stefan, Hecht Jochen, Gross Manfr |
| Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. Journal of translational medicine 2014 12 (1): 311. Wei Qinjun, Zhu Hongmei, Qian Xuli, Chen Zhibin, Yao Jun, Lu Yajie, Cao Xin, Xing Guangqi |
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