• Journal Article: RMND1-related leukoencephalopathy with temporal lobe cysts and hearing loss—another mendelian mimicker of congenital cytomegalovirus infection

    Ulrick, Nicole, Goldstein, Amy, Simons, Cas, Taft, Ryan J., Helman, Guy, Pizzino, Amy, Bloom, Miriam, Vogt, Julie, Pysden, Karen, Diodato, Daria, Martinelli, Diego, Monavari, Ahmad, Buhas, Daniela, van Karnebeek, Clara D. M., Dorboz, Imen, Boespflug-Tanguy, Odile, Rodriguez, Diana, Tetreault, Martine, Majewski, Jacek, Bernard, Genevieve, Ng, Yi Shiau, McFarland, Robert and Vanderver, Adeline (2017) RMND1-related leukoencephalopathy with temporal lobe cysts and hearing loss—another mendelian mimicker of congenital cytomegalovirus infection. Pediatric Neurology66 59-62. doi:10.1016/j.pediatrneurol.2016.09.003

  • Journal Article: Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

    Crawford, Joanna, Bower, Neil I., Hogan, Benjamin M., Taft, Ryan J., Gabbett, Michael T., McGaughran, Julie and Simons, Cas (2016) Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. American Journal of Medical Genetics, Part A170 10: 2694-2697. doi:10.1002/ajmg.a.37803

  • Journal Article: Whole exome sequencing in patients with white matter abnormalities

    Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Genevieve, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani, Ramos, Erica, Chowdhury, Shimul, Hambuch, Tina, Ru, Ke-Lin, Baillie, Gregory J., Grimmond, Sean M., Caldovic, Ljubica, Devaney, Joseph, Bloom, Miriam, Evans, Sarah H., Murphy, Jennifer L. P., McNeill, Nathan, Fogel, Brent L., Schiffmann, Raphael, van der Knaap, Marjo S. and Taft, Ryan J. (2016) Whole exome sequencing in patients with white matter abnormalities.Annals of Neurology79 6: 1031-1037. doi:10.1002/ana.24650

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