Publications
] POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. Eur J Med Genet 57, 339-344 (2014).
The Centers for Mendelian Genomics are funded by the National Human Genome Research Institute,
the National Heart, Lung, and Blood Institute, and the National Eye Institute.
the National Heart, Lung, and Blood Institute, and the National Eye Institute.
Broad Institute (UM1 HG008900), Johns Hopkins University School of Medicine/Baylor College of Medicine (UM1 HG006542),
University of Washington (UM1 HG006493), Yale University (UM1 HG006504)
University of Washington (UM1 HG006493), Yale University (UM1 HG006504)