PubMed (cited) for id: 601071

Year	Number of Results
1995	1
1996	2
1998	2
1999	1
2002	1
2003	1
2005	2
2006	2
2009	2
2012	1
2021	1
2022	1
2024	0

1

Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.

Iwasa YI, Nishio SY, Yoshimura H, Sugaya A, Kataoka Y, Maeda Y, Kanda Y, Nagai K, Naito Y, Yamazaki H, Ikezono T, Matsuda H, Nakai M, Tona R, Sakurai Y, Motegi R, Takeda H, Kobayashi M, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Furutate S, Oka SI, Kubota T, Arai Y, Kobayashi Y, Kikuchi D, Shintani T, Ogasawara N, Honkura Y, Izumi S, Hyogo M, Ninoyu Y, Suematsu M, Nakayama J, Tsuchihashi N, Okami M, Sakata H, Yoshihashi H, Kobayashi T, Kumakawa K, Yoshida T, Esaki T, Usami SI. Iwasa YI, et al. Hum Genet. 2022 Apr;141(3-4):865-875. doi: 10.1007/s00439-021-02351-7. Epub 2021 Sep 18. Hum Genet. 2022. PMID: 34536124 Free PMC article.

2

A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.

Matsunaga T, Mutai H, Kunishima S, Namba K, Morimoto N, Shinjo Y, Arimoto Y, Kataoka Y, Shintani T, Morita N, Sugiuchi T, Masuda S, Nakano A, Taiji H, Kaga K. Matsunaga T, et al. Clin Genet. 2012 Nov;82(5):425-32. doi: 10.1111/j.1399-0004.2012.01897.x. Epub 2012 Jun 1. Clin Genet. 2012. PMID: 22575033

3

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

Romanos J, Kimura L, Fávero ML, Izarra FA, de Mello Auricchio MT, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC. Romanos J, et al. J Hum Genet. 2009 Jul;54(7):382-5. doi: 10.1038/jhg.2009.45. Epub 2009 May 22. J Hum Genet. 2009. PMID: 19461658

4

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.

Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB. Choi BY, et al. Clin Genet. 2009 Mar;75(3):237-43. doi: 10.1111/j.1399-0004.2008.01128.x. Clin Genet. 2009. PMID: 19250381 Free PMC article.

5

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.

Roux I, Safieddine S, Nouvian R, Grati M, Simmler MC, Bahloul A, Perfettini I, Le Gall M, Rostaing P, Hamard G, Triller A, Avan P, Moser T, Petit C. Roux I, et al. Cell. 2006 Oct 20;127(2):277-89. doi: 10.1016/j.cell.2006.08.040. Cell. 2006. PMID: 17055430 Free article.

6

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ. Varga R, et al. J Med Genet. 2006 Jul;43(7):576-81. doi: 10.1136/jmg.2005.038612. Epub 2005 Dec 21. J Med Genet. 2006. PMID: 16371502 Free PMC article.

7

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.

Tekin M, Akcayoz D, Incesulu A. Tekin M, et al. Am J Med Genet A. 2005 Sep 15;138(1):6-10. doi: 10.1002/ajmg.a.30907. Am J Med Genet A. 2005. PMID: 16097006

8

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.

Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ. Varga R, et al. J Med Genet. 2003 Jan;40(1):45-50. doi: 10.1136/jmg.40.1.45. J Med Genet. 2003. PMID: 12525542 Free PMC article. No abstract available.

9

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, Rodríguez-Ballesteros M, Villamar M, Tellería D, Menéndez I, Moreno F, Del Castillo I. Migliosi V, et al. J Med Genet. 2002 Jul;39(7):502-6. doi: 10.1136/jmg.39.7.502. J Med Genet. 2002. PMID: 12114484 Free PMC article. No abstract available.

10

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.

Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. Yasunaga S, et al. Nat Genet. 1999 Apr;21(4):363-9. doi: 10.1038/7693. Nat Genet. 1999. PMID: 10192385

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