Insurance denials and diagnostic rates in a pediatric genomic research cohort

Autor: Zion, Tricia N., Berrios, Courtney D., Cohen, Ana S.A., Bartik, Lauren, Cross, Laura A., Engleman, Kendra L., Fleming, Emily A., Gadea, Randi N., Hughes, Susan S., Jenkins, Janda L., Kussmann, Jennifer, Lawson, Caitlin, Schwager, Caitlin, Strenk, Meghan E., Welsh, Holly, Rush, Eric T., Amudhavalli, Shivarajan M., Sullivan, Bonnie R., Zhou, Dihong, Gannon, Jennifer L., Heese, Bryce A., Moore, Riley, Boillat, Emelia, Biswell, Rebecca L., Louiselle, Daniel A., Puckett, Laura M.B., Beyer, Shanna, Neal, Shelby H., Sierant, Victoria, McBeth, Macy, Belden, Bradley, Walter, Adam M., Gibson, Margaret, Cheung, Warren A., Johnston, Jeffrey J., Thiffault, Isabelle, Farrow, Emily G., Grundberg, Elin, Pastinen, Tomi

Publikováno v: In Genetics in Medicine May 2023 25(5)

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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

Publikováno v: Genetics in Medicine; June 2022, Vol. 24 Issue: 6 p1336-1348, 13p

Additional file 1: Table S1. of Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

Autor: Thiffault, Isabelle, Zuccarelli, Britton, Welsh, Holly, Yuan, Xuan, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Abdelmoity, Ahmed, Brodsky, Robert, Saunders, Carol

Characteristic of variants reported in patient CMH1157. (DOCX 34Â kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::59e60916d10a24a57e24d2c7de5c6799

43. Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) & VACTERL Syndrome in Monochorionic Monoamniotic Twins with Primary Amenorrhea

Autor: Kresie, Elizabeth, Lawson, Ashli, Welsh, Holly, Strickland, Julie

Publikováno v: In Journal of Pediatric and Adolescent Gynecology April 2020 33(2):196-196