Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

Autor: 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, Pastinen, Tomi
Zdroj: Genetics in Medicine; June 2022, Vol. 24 Issue: 6 p1336-1348, 13p
Abstrakt: This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.
Databáze: Supplemental Index