Publications
] International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet 100, 695-705 (2017).
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Hum Mutat 37, 653-60 (2016).
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)