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Satu Turunen-Taheri, Åsa Skagerstrand, Sten Hellström & Per-Inge Carlsson. (2017) Patients with severe-to-profound hearing impairment and simultaneous severe vision impairment: a quality-of-life study. Acta Oto-Laryngologica 137:3, pages 279-285.
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Dong Woo Nam, Yong Keun Song, Jeong Hun Kim, Eun Kyoung Lee, Kyu Hyung Park, JuHyuen Cha, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Dong Hyun Jo & Sang-Yeon Lee. (2023) Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients. Scientific Reports 13:1.
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Satu Turunen-Taheri, Annica Hagerman Sirelius, Sten Hellström, Åsa Skjönsberg & Gunnel Backenroth. (2023) Combined severe-to-profound hearing and vision impairment—Experiences of daily life and need of support, an interview study. PLOS ONE 18:6, pages e0280709.
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Cris Lanting, Ad Snik, Joop Leijendeckers, Arjan Bosman & Ronald Pennings. (2022) Genetic Hearing Loss Affects Cochlear Processing. Genes 13:11, pages 1923.
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Khine Zaw, Livia S. Carvalho, May T. Aung-Htut, Sue Fletcher, Steve D. Wilton, Fred K. Chen & Samuel McLenachan. (2022) Pathogenesis and Treatment of Usher Syndrome Type IIA. Asia-Pacific Journal of Ophthalmology 11:4, pages 369-379.
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T.G. Markova, M.R. Lalayants, N.N. Alekseeva, O.P. Ryzhkova, O.L. Shatokhina, N.M. Galeeva, E.A. Bliznetz, M.E. Weener, O.A. Belov, S.S. Chibisova, A.V. Polyakov & G.A. Tavartkiladze. (2022) Early audiological phenotype in patients with mutations in the USH2A gene. International Journal of Pediatric Otorhinolaryngology 157, pages 111140.
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M. Stemerdink, B. García-Bohórquez, R. Schellens, G. Garcia-Garcia, E. Van Wijk & J. M. Millan. (2021) Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2. Human Genetics 141:3-4, pages 737-758.
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Alessandro Castiglione & Claes Möller. (2022) Usher Syndrome. Audiology Research 12:1, pages 42-65.
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Hossein Fahimi, Samira Behroozi, Sadaf Noavar & Farshid Parvini. (2021) A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss. BMC Medical Genomics 14:1.
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Alessandro Iannaccone, Carmen C. Brewer, Peiyao Cheng, Jacque L. Duncan, Maureen G. Maguire, Isabelle Audo, Allison R. Ayala, Paul S. Bernstein, Gavin M. Bidelman, Janet K. Cheetham, Richard L. Doty, Todd A. Durham, Robert B. Hufnagel, Mark H. Myers, Katarina Stingl & Wadih M. Zein. (2021)
Auditory and olfactory findings in patients with
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. American Journal of Medical Genetics Part A 185:12, pages 3717-3727.
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Jing Guan, Jin Li, Guohui Chen, Tao Shi, Lan Lan, Xiaonan Wu, Cui Zhao, Dayong Wang, Hongyang Wang & Qiuju Wang. (2021) Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways. European Journal of Medical Genetics 64:10, pages 104311.
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Sang-Yeon Lee, Kwangsic Joo, Jayoung Oh, Jin Hee Han, Hye-Rim Park, Seungmin Lee, Doo-Yi Oh, Se Joon Woo & Byung Yoon Choi. (2020) Severe or Profound Sensorineural Hearing Loss Caused by Novel <i>USH2A</i> Variants in Korea: Potential Genotype-Phenotype Correlation. Clinical and Experimental Otorhinolaryngology 13:2, pages 113-122.
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Udhaya Kotecha, Ratna Puri, Sunita Bijarnia, Sudha Kohli, Renu Saxena & Ishwar Verma. (2019) Evaluating the Utility of Next Generation Sequencing Technology in the Diagnosis and Prevention of Genetic Disorders in India, the Early Experiences. Journal of Fetal Medicine 6:2, pages 57-62.
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Giuseppe Magliulo, Giannicola Iannella, Silvia Gagliardi, Nicola Iozzo, Rocco Plateroti, Alessandro Mariottini & Francesca Torricelli. (2017) Usher’s Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation. Otolaryngology–Head and Neck Surgery 157:5, pages 853-860.
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Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike M. Korbmacher, Dagmar Huhle, Solaf M. Elsayed, Hesham M. Taha, Shahid M. Baig, Heidi Stöhr, Markus Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel-Wolfrum, Arif O. Khan & Hanno J. Bolz. (2017)
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Bas P. Hartel, Maria Löfgren, Patrick L.M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort, Andre M. Sadeghi, Erwin van Wijk, Lisbeth Tranebjærg, Hannie Kremer, William J. Kimberling, Cor W.R.J. Cremers, Claes Möller & Ronald J.E. Pennings. (2016) A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. Hearing Research 339, pages 60-68.
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Bas P. Hartel, Ronald J.E. Pennings & Erwin van Wijk. (2016) Comment on “Usher's Syndrome. Otology & Neurotology 37:5, pages 608.
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Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García-García, Mireille Claustres, Lisette Hetterschijt, Theo A Peters, Bas P Hartel, Ronald JE Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob WJ Collin, Hannie Kremer, Anne-Françoise Roux & Erwin Van Wijk. (2016) Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation. Molecular Therapy - Nucleic Acids 5, pages e381.
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Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld, Hui Wang, Shan Xu, Keqing Wang, Binbin Wang, Rui Chen & Ruifang Sui. (2015) Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet Journal of Rare Diseases 10:1.
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Kevin T. Booth, Hela Azaiez, Kimia Kahrizi, Allen C. Simpson, William T.A. Tollefson, Christina M. Sloan, Nicole C. Meyer, Mojgan Babanejad, Fariba Ardalani, Sanaz Arzhangi, Michael J. Schnieders, Hossein Najmabadi & Richard J.H. Smith. (2015)
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. American Journal of Medical Genetics Part A 167:12, pages 2957-2965.
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