Publications
] Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol 83, 1105-1124 (2018).
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)