Export 4 results:Author [ Title] Year
Filters: Author is Kang, Peter B [Clear All Filters]
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet 62, 243-252 (2017).
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet 102, 858-873 (2018).