Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS
- Creator: Rafehi, Haloom , Szmulewicz, David J. , Barcina, Maria Garcia , Breen, David P. , Chancellor, Andrew M. , Cremer, Phillip D. , Delatycki, Martin B. , Fogel, Brent L. , Hackett, Anna , Halmagyi, G. Michael , Kapetanovic, Solange , Lang, Anthony , Bennett, Mark F. , Mossman, Stuart , Mu, Weiyi , Patrikios, Peter , Perlman, Susan L. , Rosemergy, Ian , Storey, Elsdon , Watson, Shaun R. D. , Wilson, Michael A. , Zee, David S. , Valle, David , Sobreira, Nara L. M. , Amor, David J. , Bahlo, Melanie , Lockhart, Paul J. , Pope, Kate , Smith, Katherine R. , Gillies, Greta , Diakumis, Peter , Dolzhenko, Egor , Eberle, Michael A.
- Resource Type: journal article
- Date: 2019
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
- Creator: Wu, Ye , Arai, Amy C. , Boyle, Jackie , Tarpey, Patrick , Raymond, F. Lucy , Nevelsteen, Joke , Froyen, Guy , Stratton, Mike , Futreal, Andy , Gecz, Jozef , Stevenson, Roger , Schwartz, Charles E. , Rumbaugh, Gavin , Valle, David , Huganir, Richard L. , Wang, Tao , Srivastava, Anand K. , Turner, Gillian , Hayashi, Takashi , Suzuki, Erika , Jiang, Yuwu , Zhang, Lilei , Rodriguez, Jayson
- Resource Type: journal article
- Date: 2007