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- Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.Proc Natl Acad Sci USA. 2010; 107: 21104-21109
- High-throughput sequencing to decipher the genetic heterogeneity of deafness.Genome Biol. 2012; 13: 245
- Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.Orphanet J Rare Dis. 2013; 8: 172
- Insights from the X-ray crystal structure of coral 8R-lipoxygenase: calcium activation via a C2-like domain and a structural basis of product chirality.J Biol Chem. 2005; 280: 39545-39552
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- The N-terminal domain of 5-lipoxygenase binds calcium and mediates calcium stimulation of enzyme activity.J Biol Chem. 2000; 275: 38787-38793
- Investigations into calcium-dependent membrane association of 15-lipoxygenase-1. Mechanistic roles of surface-exposed hydrophobic amino acids and calcium.J Biol Chem. 2004; 279: 3717-3725
- Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.Am J Hum Genet. 2009; 85: 328-337
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- The SWISS-MODEL Repository and associated resources.Nucleic Acids Res. 2009; 37: D387-D392
- UCSF Chimera – a visualization system for exploratory research and analysis.J Comput Chem. 2004; 25: 1605-1612
- Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.PLoS ONE. 2012; 7: e50628
- A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.Am J Med Genet A. 2011; 155A: 1170-1172
- Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.Gene, 2014
- Mutations in LOXHD1 gene cause various types and severities of hearing loss.Ann Otol Rhinol Laryngol. 2015; 124: 135S-141S
- Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.Am J Hum Genet. 2012; 90: 533-539