Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

Por Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.
Publicado no Mol Genet Genomic Med (2018)

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22

Por Jones, Erin A., Brewer, Megan H., Srinivasan, Rajini, Krueger, Courtney, Sun, Guannan, Charney, Kira N., Keles, Sunduz, Antonellis, Anthony, Svaren, John
Publicado em 2012

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

Por Drew, Alexander P, Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H, Ahmad-Annuar, Azlina, Nicholson, Garth A, Kennerson, Marina L
Publicado no Mol Genet Genomic Med (2015)

SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2

Por Fogarty, Elizabeth A., Brewer, Megan H., Rodriguez-Molina, Jose F., Law, William D., Ma, Ki H., Steinberg, Noah M., Svaren, John, Antonellis, Anthony
Publicado no Hum Mol Genet (2016)

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

Por Brewer, Megan H., Chaudhry, Rabia, Qi, Jessica, Kidambi, Aditi, Drew, Alexander P., Menezes, Manoj P., Ryan, Monique M., Farrar, Michelle A., Mowat, David, Subramanian, Gopinath M., Young, Helen K., Zuchner, Stephan, Reddel, Stephen W., Nicholson, Garth A., Kennerson, Marina L.
Publicado no PLoS Genet (2016)