Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

por Russell, Bianca E., Rigueur, Diana, Weaver, Kathryn N., Sund, Kristen, Basil, Janet S., Hufnagel, Robert B., Prows, Cynthia A., Oestreich, Alan, Al‐Gazali, Lihadh, Hopkin, Robert J, Saal, Howard M., Lyons, Karen, Dauber, Andrew
Publicado 2019

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

por Mandl, Kenneth D., Glauser, Tracy, Krantz, Ian D., Avillach, Paul, Bartels, Anna, Beggs, Alan H., Biswas, Sawona, Bourgeois, Florence T., Corsmo, Jeremy, Dauber, Andrew, Devkota, Batsal, Fleisher, Gary R., Heath, Allison P., Helbig, Ingo, Hirschhorn, Joel N., Kilbourn, Judson, Kong, Sek Won, Kornetsky, Susan, Majzoub, Joseph A., Marsolo, Keith, Martin, Lisa J., Nix, Jeremy, Schwarzhoff, Amy, Stedman, Jason, Strauss, Arnold, Sund, Kristen L., Taylor, Deanne M., White, Peter S., Marsh, Eric, Grimberg, Adda, Hawkes, Colin
Publicado 2019

Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

por Mandl, Kenneth D., Glauser, Tracy, Krantz, Ian D., Avillach, Paul, Bartels, Anna, Beggs, Alan H., Biswas, Sawona, Bourgeois, Florence T., Corsmo, Jeremy, Dauber, Andrew, Devkota, Batsal, Fleisher, Gary R., Heath, Allison P., Helbig, Ingo, Hirschhorn, Joel N., Kilbourn, Judson, Kong, Sek Won, Kornetsky, Susan, Majzoub, Joseph A., Marsolo, Keith, Martin, Lisa J., Nix, Jeremy, Schwarzhoff, Amy, Stedman, Jason, Strauss, Arnold, Sund, Kristen L., Taylor, Deanne M., White, Peter S., Marsh, Eric, Grimberg, Adda, Hawkes, Colin
Publicado 2019

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

por Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Publicado 2015