Publications
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Author [ Title] Year Filters: Author is Santos-Cortez, Regie Lyn P and Keyword is Haplotypes [Clear All Filters]
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet 17, 13 (2016).
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet 93, 132-40 (2013).
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet 94, 33-46 (2014).