Search Results - "Arcia, Yeisha"

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A by Xu, Isaac R. L., Danzi, Matt C., Ruiz, Ariel, Raposo, Jacquelyn, De Jesus, Yeisha Arcia, Reilly, Mary M., Cortese, Andrea, Shy, Michael E., Scherer, Steven S., Herrmann, David N., Fridman, Vera, Baets, Jonathan, Saporta, Mario, Seyedsadjadi, Reza, Stojkovic, Tanya, Claeys, Kristl G., Patel, Pooja, Feely, Shawna, Rebelo, Adriana P., Dohrn, Maike F., Züchner, Stephan

“…Background Caused by duplications of the gene encoding peripheral myelin protein 22 (PMP22), Charcot–Marie–Tooth disease type 1A (CMT1A) is the most common…”
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The GENESIS database and tools: A decade of discovery in Mendelian genomics by Danzi, Matt C., Powell, Eric, Rebelo, Adriana P., Dohrn, Maike F., Beijer, Danique, Fazal, Sarah, Xu, Isaac R.L., Medina, Jessica, Chen, Sitong, Arcia de Jesus, Yeisha, Schatzman, Jacquelyn, Hershberger, Ray E., Saporta, Mario, Baets, Jonathan, Falk, Marni, Herrmann, David N., Scherer, Steven S., Reilly, Mary M., Cortese, Andrea, Marques, Wilson, Cornejo-Olivas, Mario R., Sanmaneechai, Oranee, Kennerson, Marina L., Jordanova, Albena, Silva, Thiago Y.T., Pedroso, Jose Luiz, Schierbaum, Luca, Ebrahimi-Fakhari, Darius, Peric, Stojan, Lee, Yi-Chung, Synofzik, Matthis, Tekin, Mustafa, Ravenscroft, Gianina, Shy, Mike, Basak, Nazli, Schule, Rebecca, Zuchner, Stephan

“…In the past decade, human genetics research saw an acceleration of disease gene discovery and further dissection of the genetic architectures of many…”
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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity by Beijer, Danique, Dohrn, Maike F, Rebelo, Adriana, Danzi, Matt C, Grosz, Bianca Rose, Ellis, Melina, Kumar, Kishore R, Vucic, Steve, Vais, Horia, Weissenrieder, Jillian S, Lunko, Olesia, Paudel, Usha, Simpson, Leah C, Raposo, Jacquelyn, Saporta, Mario, Arcia, Yeisha, Xu, Isaac, Feely, Shawna, Record, Christopher J, Blake, Julian, Reilly, Mary M, Scherer, Steven, Kennerson, Marina, Lee, Yi-Chung, Foskett, J Kevin, Shy, Michael, Zuchner, Stephan

“…Charcot-Marie-Tooth (CMT) disease is a neuromuscular disorder affecting the peripheral nervous system. The diagnostic yield in demyelinating CMT (CMT1) is…”
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