Publications
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Author Title [ Year] Filters: Keyword is Mutation and Author is Reddy, Hemakumar M [Clear All Filters]
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 62, 243-252 (2017).