Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C

- Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Sstephan, Tran, Luan T., Ulrick, N, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M. L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Ronan, Anne, Van Spaendonk, RML

Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS

- 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.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

- Zambonin, Jessica L., Bellomo, Allison, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Ben-Pazi, Hilla, Dudding-Byth, Tracy, Boycott, Kym M., Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin