Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome

por Reynolds, Hayley M., Wen, Ting, Farrell, Andrew, Mao, Rong, Moore, Barry, Boyden, Steven E., Bayrak-Toydemir, Pinar, Nicholas, Thomas J., Rynearson, Shawn, Holt, Carson, Miller, Christine, Noble, Katherine, Bentley, Dawn, Palmquist, Rachel, Ostrander, Betsy, Manberg, Stephanie, Bonkowsky, Joshua L., Shayota, Brian J., Jenkins, Sabrina Malone
Publicado 2022

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

por Nicholas, Thomas J., Al‐Sweel, Najla, Farrell, Andrew, Mao, Rong, Bayrak‐Toydemir, Pinar, Miller, Christine E., Bentley, Dawn, Palmquist, Rachel, Moore, Barry, Hernandez, Edgar J., Cormier, Michael J., Fredrickson, Eric, Noble, Katherine, Rynearson, Shawn, Holt, Carson, Karren, Mary Anne, Bonkowsky, Joshua L., Tristani‐Firouzi, Martin, Yandell, Mark, Marth, Gabor, Quinlan, Aaron R., Brunelli, Luca, Toydemir, Reha M., Shayota, Brian J., Carey, John C., Boyden, Steven E., Malone Jenkins, Sabrina
Publicado 2022

Clinical Trial-Ready Patient Cohorts for Multiple System Atrophy: Coupling Biospecimen and iPSC Banking to Longitudinal Deep-Phenotyping

por Ndayisaba, Alain, Pitaro, Ariana T., Willett, Andrew S., Jones, Kristie A., de Gusmao, Claudio Melo, Olsen, Abby L., Kim, Jisoo, Rissanen, Eero, Woods, Jared K., Srinivasan, Sharan R., Nagy, Anna, Nagy, Amanda, Mesidor, Merlyne, Cicero, Steven, Patel, Viharkumar, Oakley, Derek H., Tuncali, Idil, Taglieri-Noble, Katherine, Clark, Emily C., Paulson, Jordan, Krolewski, Richard C., Ho, Gary P., Hung, Albert Y., Wills, Anne-Marie, Hayes, Michael T., Macmore, Jason P., Warren, Luigi, Bower, Pamela G., Langer, Carol B., Kellerman, Lawrence R., Humphreys, Christopher W., Glanz, Bonnie I., Dielubanza, Elodi J., Frosch, Matthew P., Freeman, Roy L., Gibbons, Christopher H., Stefanova, Nadia, Chitnis, Tanuja, Weiner, Howard L., Scherzer, Clemens R., Scholz, Sonja W., Vuzman, Dana, Cox, Laura M., Wenning, Gregor, Schmahmann, Jeremy D., Gupta, Anoopum S., Novak, Peter, Young, Geoffrey S., Feany, Mel B., Singhal, Tarun, Khurana, Vikram
Publicado 2022