TY - JOUR AU - Morton, C. C. AU - Nance, W. E. PY - 2006 DA - 2006// TI - Newborn hearing screening--a silent revolution JO - N Engl J Med VL - 354 UR - https://doi.org/10.1056/NEJMra050700 DO - 10.1056/NEJMra050700 ID - Morton2006 ER - TY - JOUR AU - Duman, D. AU - Tekin, M. PY - 2012 DA - 2012// TI - Autosomal recessive nonsyndromic deafness genes: a review JO - Front Biosci VL - 17 UR - https://doi.org/10.2741/4046 DO - 10.2741/4046 ID - Duman2012 ER - TY - JOUR AU - Hilgert, N. AU - Smith, R. J. AU - Van Camp, G. PY - 2009 DA - 2009// TI - Function and expression pattern of nonsyndromic deafness genes JO - Curr Mol Med VL - 9 UR - https://doi.org/10.2174/156652409788488775 DO - 10.2174/156652409788488775 ID - Hilgert2009 ER - TY - JOUR AU - Lu, Y. AU - Dai, D. AU - Chen, Z. PY - 2011 DA - 2011// TI - Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China JO - J Biomed Res VL - 25 UR - https://doi.org/10.1016/S1674-8301(11)60042-0 DO - 10.1016/S1674-8301(11)60042-0 ID - Lu2011 ER - TY - JOUR AU - Choi, M. AU - Scholl, U. I. AU - Ji, W. PY - 2009 DA - 2009// TI - Genetic diagnosis by whole exome capture and massively parallel DNA sequencing JO - Proc Natl Acad Sci U S A VL - 106 UR - https://doi.org/10.1073/pnas.0910672106 DO - 10.1073/pnas.0910672106 ID - Choi2009 ER - TY - JOUR AU - Diaz-Horta, O. AU - Duman, D. AU - Foster, J. PY - 2012 DA - 2012// TI - Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss JO - PLoS ONE VL - 7 UR - https://doi.org/10.1371/journal.pone.0050628 DO - 10.1371/journal.pone.0050628 ID - Diaz-Horta2012 ER - TY - JOUR AU - Liu, S. AU - Xu, L. AU - Chen, B. PY - 2015 DA - 2015// TI - Analysis common gene mutation spots of 127 non-syndromic deafness natients in Guangxi Drovince JO - Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi VL - 29 ID - Liu2015 ER - TY - JOUR AU - Yuan, L. AU - Wu, S. AU - Xu, H. PY - 2015 DA - 2015// TI - Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing JO - Biol Chem VL - 396 UR - https://doi.org/10.1515/hsz-2014-0187 DO - 10.1515/hsz-2014-0187 ID - Yuan2015 ER - TY - JOUR AU - Shizuka, M. AU - Ikeda, Y. AU - Watanabe, M. PY - 1999 DA - 1999// TI - A novel mutation of the myelin P (o) gene segregating Charcot-Marie-Toothdisease type 1B manifesting as trigeminal nerve thickening JO - J Neurol Neurosurg Psychiatry VL - 67 UR - https://doi.org/10.1136/jnnp.67.2.250a DO - 10.1136/jnnp.67.2.250a ID - Shizuka1999 ER - TY - JOUR AU - Manchaiah, V. K. AU - Zhao, F. AU - Danesh, A. A. AU - Duprey, R. PY - 2011 DA - 2011// TI - The genetic basis of auditory neuropathy spectrum disorder (ANSD) JO - Int J Pediatr Otorhinolaryngol VL - 75 UR - https://doi.org/10.1016/j.ijporl.2010.11.023 DO - 10.1016/j.ijporl.2010.11.023 ID - Manchaiah2011 ER - TY - JOUR AU - Yasunaga, S. AU - Grati, M. AU - Cohen-Salmon, M. PY - 1999 DA - 1999// TI - A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness JO - Nat Genet VL - 21 UR - https://doi.org/10.1038/7693 DO - 10.1038/7693 ID - Yasunaga1999 ER - TY - JOUR AU - Delmaghani, S. AU - Del Castillo, F. J. AU - Michel, V. PY - 2006 DA - 2006// TI - Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy JO - Nat Genet VL - 38 UR - https://doi.org/10.1038/ng1829 DO - 10.1038/ng1829 ID - Delmaghani2006 ER - TY - JOUR AU - Kim, T. B. AU - Isaacson, B. AU - Sivakumaran, T. A. AU - Starr, A. AU - Keats, B. J. AU - Lesperance, M. M. PY - 2004 DA - 2004// TI - A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21 JO - J Med Genet VL - 41 UR - https://doi.org/10.1136/jmg.2004.020628 DO - 10.1136/jmg.2004.020628 ID - Kim2004 ER - TY - JOUR AU - Wang, Q. J. AU - Li, Q. Z. AU - Rao, S. Q. PY - 2006 DA - 2006// TI - AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3 JO - J Med Genet VL - 43 UR - https://doi.org/10.1136/jmg.2005.037929 DO - 10.1136/jmg.2005.037929 ID - Wang2006 ER - TY - JOUR AU - Cheng, X. AU - Li, L. AU - Brashears, S. PY - 2005 DA - 2005// TI - Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf JO - Am J Med Genet A VL - 139 UR - https://doi.org/10.1002/ajmg.a.30929 DO - 10.1002/ajmg.a.30929 ID - Cheng2005 ER - TY - JOUR AU - Yasunaga, S. AU - Grati, M. AU - Chardenoux, S. PY - 2000 DA - 2000// TI - OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9 JO - Am J Hum Genet VL - 67 UR - https://doi.org/10.1086/303049 DO - 10.1086/303049 ID - Yasunaga2000 ER - TY - JOUR AU - Rodriguez-Ballesteros, M. AU - Reynoso, R. AU - Olarte, M. PY - 2008 DA - 2008// TI - A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy JO - Hum Mutat VL - 29 UR - https://doi.org/10.1002/humu.20708 DO - 10.1002/humu.20708 ID - Rodriguez-Ballesteros2008 ER - TY - JOUR AU - Roux, I. AU - Safieddine, S. AU - Nouvian, R. PY - 2006 DA - 2006// TI - Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse JO - Cell VL - 127 UR - https://doi.org/10.1016/j.cell.2006.08.040 DO - 10.1016/j.cell.2006.08.040 ID - Roux2006 ER - TY - JOUR AU - Roberts, W. M. PY - 2006 DA - 2006// TI - Snaring otoferlin’s role in deafness JO - Cell VL - 127 UR - https://doi.org/10.1016/j.cell.2006.10.010 DO - 10.1016/j.cell.2006.10.010 ID - Roberts2006 ER - TY - JOUR AU - Mahdieh, N. AU - Shirkavand, A. AU - Rabbani, B. PY - 2012 DA - 2012// TI - Screening of OTOF mutations in Iran: a novel mutation and review JO - Int J Pediatr Otorhinolaryngol VL - 76 UR - https://doi.org/10.1016/j.ijporl.2012.07.030 DO - 10.1016/j.ijporl.2012.07.030 ID - Mahdieh2012 ER - TY - JOUR AU - Migliosi, V. AU - Modamio-Hoybjor, S. AU - Moreno-Pelayo, M. A. PY - 2002 DA - 2002// TI - Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss JO - J Med Genet VL - 39 UR - https://doi.org/10.1136/jmg.39.7.502 DO - 10.1136/jmg.39.7.502 ID - Migliosi2002 ER - TY - JOUR AU - Reynoso, R. A. AU - Hendl, S. AU - Barteik, M. E. PY - 2004 DA - 2004// TI - Genetic study of hearing loss in families from Argentina JO - Rev Fac Cien Med Univ Nac Cordoba VL - 61 ID - Reynoso2004 ER - TY - JOUR AU - Varga, R. AU - Avenarius, M. R. AU - Kelley, P. M. PY - 2006 DA - 2006// TI - OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele JO - J Med Genet VL - 43 UR - https://doi.org/10.1136/jmg.2005.038612 DO - 10.1136/jmg.2005.038612 ID - Varga2006 ER - TY - JOUR AU - Rouillon, I. AU - Marcolla, A. AU - Roux, I. PY - 2006 DA - 2006// TI - Results of cochlear implantation in two children with mutations in the OTOF gene JO - Int J Pediatr Otorhinolaryngol VL - 70 UR - https://doi.org/10.1016/j.ijporl.2005.09.006 DO - 10.1016/j.ijporl.2005.09.006 ID - Rouillon2006 ER - TY - JOUR AU - Varga, R. AU - Kelley, P. M. AU - Keats, B. J. PY - 2003 DA - 2003// TI - Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene JO - J Med Genet VL - 40 UR - https://doi.org/10.1136/jmg.40.1.45 DO - 10.1136/jmg.40.1.45 ID - Varga2003 ER - TY - JOUR AU - Iwasa, Y. AU - Nishio, S. Y. AU - Yoshimura, H. PY - 2013 DA - 2013// TI - OTOF mutation screening in Japanese severe to profound recessive hearing loss patients JO - BMC Med Genet VL - 14 UR - https://doi.org/10.1186/1471-2350-14-95 DO - 10.1186/1471-2350-14-95 ID - Iwasa2013 ER - TY - JOUR AU - Zhang, Q. J. AU - Han, B. AU - Lan, L. PY - 2016 DA - 2016// TI - High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder JO - Clin Genet VL - 90 UR - https://doi.org/10.1111/cge.12744 DO - 10.1111/cge.12744 ID - Zhang2016 ER - TY - JOUR AU - Choi, B. Y. AU - Ahmed, Z. M. AU - Riazuddin, S. PY - 2009 DA - 2009// TI - Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan JO - Clin Genet VL - 75 UR - https://doi.org/10.1111/j.1399-0004.2008.01128.x DO - 10.1111/j.1399-0004.2008.01128.x ID - Choi2009 ER -