Biblio
2020
Choufani S, Gibson WT, Turinsky AL, H Y Chung B, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, et al. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020.
Miao Y, Tian L, Martin M, Paige SL, Galdos FX, Li J, Klein A, Zhang H, Ma N, Wei Y, et al. Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart Syndrome. Cell Stem Cell. 2020.
2019
Hirose T, Cabrera-Socorro A, Chitayat D, Lemonnier T, Féraud O, Cifuentes-Diaz C, Gervasi N, Mombereau C, Ghosh T, Stoica L, et al. ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration. J Clin Invest. 2019;130.
2015
Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, et al. PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nat Genet. 2015.