Publications
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Author [ Title] Year Filters: Keyword is Animals and Author is Santos-Cortez, Regie Lyn P [Clear All Filters]
Multi-omic studies on missense PLG variants in families with otitis media. Sci Rep 10, 15035 (2020).
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Hum Mutat 37, 991-1003 (2016).
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93, 132-40 (2013).
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet 138, 593-600 (2019).