1. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
- Author
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Cohen, Ana S.A., Farrow, Emily G., Abdelmoity, Ahmed T., Alaimo, Joseph T., Amudhavalli, Shivarajan M., Anderson, John T., Bansal, Lalit, Bartik, Lauren, Baybayan, Primo, Belden, Bradley, Berrios, Courtney D., Biswell, Rebecca L., Buczkowicz, Pawel, Buske, Orion, Chakraborty, Shreyasee, Cheung, Warren A., Coffman, Keith A., Cooper, Ashley M., Cross, Laura A., Curran, Tom, Dang, Thuy Tien T., Elfrink, Mary M., Engleman, Kendra L., Fecske, Erin D., Fieser, Cynthia, Fitzgerald, Keely, Fleming, Emily A., Gadea, Randi N., Gannon, Jennifer L., Gelineau-Morel, Rose N., Gibson, Margaret, Goldstein, Jeffrey, Grundberg, Elin, Halpin, Kelsee, Harvey, Brian S., Heese, Bryce A., Hein, Wendy, Herd, Suzanne M., Hughes, Susan S., Ilyas, Mohammed, Jacobson, Jill, Jenkins, Janda L., Jiang, Shao, Johnston, Jeffrey J., Keeler, Kathryn, Korlach, Jonas, Kussmann, Jennifer, Lambert, Christine, Lawson, Caitlin, Le Pichon, Jean-Baptiste, Leeder, James Steven, Little, Vicki C., Louiselle, Daniel A., Lypka, Michael, McDonald, Brittany D., Miller, Neil, Modrcin, Ann, Nair, Annapoorna, Neal, Shelby H., Oermann, Christopher M., Pacicca, Donna M., Pawar, Kailash, Posey, Nyshele L., Price, Nigel, Puckett, Laura M.B., Quezada, Julio F., Raje, Nikita, Rowell, William J., Rush, Eric T., Sampath, Venkatesh, Saunders, Carol J., Schwager, Caitlin, Schwend, Richard M., Shaffer, Elizabeth, Smail, Craig, Soden, Sarah, Strenk, Meghan E., Sullivan, Bonnie R., Sweeney, Brooke R., Tam-Williams, Jade B., Walter, Adam M., Welsh, Holly, Wenger, Aaron M., Willig, Laurel K., Yan, Yun, Younger, Scott T., Zhou, Dihong, Zion, Tricia N., Thiffault, Isabelle, and Pastinen, Tomi
- Abstract
This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.
- Published
- 2022
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