Publications
] Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun 10, 797 (2019).
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Ann Neurol 80, 59-70 (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)