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The Centers for Mendelian Genomics will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. Our vision is to discover new genes that cause Mendelian conditions. As a result, we will expand our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments. Disorders currently being investigated |
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| University of Washington Center for Mendelian Genomics (coordinating center) | Yale Center for Mendelian Genomics | Baylor-Johns Hopkins Center for Mendelian Genomics |
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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome.
Online 26 April 2012 | AJHG 90, 925-933 (2012) | doi:10.1016/j.ajhg.2012.04.004 |