Five new OTOF gene mutations and auditory neuropathy

PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Kai Wang, Mingyao Li, Dexter Hadley et al. · Genome Research · 2007 · 1.9K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Auditory neuropathy

Arnold Starr, Terence W. Picton, Yvonnc Sininger et al. · Brain · 1996 · 972 citations · Full text

Medicine, Neurology, Neuroscience +17

Otoferlin, Defective in a Human Deafness Form, Is Essential for Exocytosis at the Auditory Ribbon Synapse

Isabelle Roux, Saaïd Safieddine, Régis Nouvian et al. · Cell · 2006 · 742 citations · Full text

Medicine, Neurobiology, Neuroscience +13

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

Shin’ichiro Yasunaga, M’hamed Grati, Martine Cohen‐Salmon et al. · Nature Genetics · 1999 · 585 citations

Medicine, Genetics, Molecular Genetics +13

The Varieties of Auditory Neuropathy

A. Starr, Yvonne S. Sininger, H. Pratt · Journal of Basic and Clinical Physiology and Pharmacology · 2000 · 264 citations

Life Sciences, Audiology, Neurology +17