Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
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
Published in PLoS genetics (01.07.2016)
Published in PLoS genetics (01.07.2016)
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Journal Article
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation
Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.
Published in Molecular genetics & genomic medicine (01.05.2018)
Published in Molecular genetics & genomic medicine (01.05.2018)
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Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model
Narayanan, Ramesh K, Brewer, Megan H, Perez-Siles, Gonzalo, Ellis, Melina, Ly, Carolyn, Burgess, Andrew, Neumann, Brent, Nicholson, Garth A, Vucic, Steve, Kennerson, Marina L
Published in Human molecular genetics (17.12.2021)
Published in Human molecular genetics (17.12.2021)
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Journal Article
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34–q36.2
Drew, Alexander P., Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.
Published in Human genetics (01.11.2016)
Published in Human genetics (01.11.2016)
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Journal Article
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3
Kanhangad, Manoj, Cornett, Kayla, Brewer, Megan H, Nicholson, Garth A, Ryan, Monique M, Smith, Robert L, Subramanian, Gopinath M, Young, Helen K, Züchner, Stephan, Kennerson, Marina L, Burns, Joshua, Menezes, Manoj P
Published in Neurology (08.05.2018)
Published in Neurology (08.05.2018)
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Journal Article
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22
Jones, Erin A., Brewer, Megan H., Srinivasan, Rajini, Krueger, Courtney, Sun, Guannan, Charney, Kira N., Keles, Sunduz, Antonellis, Anthony, Svaren, John
Published in Human molecular genetics (01.04.2012)
Published in Human molecular genetics (01.04.2012)
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Journal Article
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2
Fogarty, Elizabeth A, Brewer, Megan H, Rodriguez-Molina, Jose F, Law, William D, Ma, Ki H, Steinberg, Noah M, Svaren, John, Antonellis, Anthony
Published in Human molecular genetics (15.09.2016)
Published in Human molecular genetics (15.09.2016)
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