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Yi-Ming Zhu, Yong Li, Yan-Li Wang, Pan-Pan Bian, Bai-Cheng Xu, Xiao-Wen Liu, Xing-Jian Chen, Feng Liu, Yu-Fen Guo & Qiu-Ju Wang. (2015) The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review. Acta Oto-Laryngologica 135:9, pages 914-918.
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Nandita Sharma, Divya Kumari, Inusha Panigrahi & Preeti Khetarpal. (2022) A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options. Clinical Genetics 103:1, pages 16-34.
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Irina Resmerita, Romica Sebastian Cozma, Roxana Popescu, Luminita Mihaela Radulescu, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Lavinia Caba, Ovidiu-Dumitru Ilie, Eva-Cristiana Gavril, Eusebiu Vlad Gorduza & Cristina Rusu. (2020) Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review. Genes 11:12, pages 1506.
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Edmond Wonkam Tingang, Jean Jacques Noubiap, Jean Valentin F. Fokouo, Oluwafemi Gabriel Oluwole, Séraphin Nguefack, Emile R. Chimusa & Ambroise Wonkam. (2020) Hearing Impairment Overview in Africa: the Case of Cameroon. Genes 11:2, pages 233.
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K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury & Roger Williams. (2017) Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes. Hereditas 154:1.
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Nikolay A. Barashkov, Vera G. Pshennikova, Olga L. Posukh, Fedor M. Teryutin, Aisen V. Solovyev, Leonid A. Klarov, Georgii P. Romanov, Nyurgun N. Gotovtsev, Andrey A. Kozhevnikov, Elena V. Kirillina, Oksana G. Sidorova, Lena M. Vasilyevа, Elvira E. Fedotova, Igor V. Morozov, Alexander A. Bondar, Natalya A. Solovyevа, Sardana K. Kononova, Adyum M. Rafailov, Nikolay N. Sazonov, Anatoliy N. Alekseev, Mikhail I. Tomsky, Lilya U. Dzhemileva, Elza K. Khusnutdinova & Sardana A. Fedorova. (2016) Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). PLOS ONE 11:5, pages e0156300.
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Keita Tsukada, Shin-ya Nishio, Mitsuru Hattori & Shin-ichi Usami. (2015)
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Li Qian, Ji Yubin, Han Bing, Zong Liang, Lan Lan, Zhao Yali, Wang Hongyang, Wang Dayong & Wang Qiuju. (2014) Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han. Chinese Medical Journal 127:18, pages 3233-3237.
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Guanming Chen, Jing Liu, Jiashu Dong, Jiaxin Li & Siqing Fu. (2014) GJB2 mutations are rare in probands with hearing loss in Chinese assortative mating families. International Journal of Pediatric Otorhinolaryngology 78:2, pages 244-247.
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