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TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist by Christian R Marshall, Sonya Elango, Salma Shickh, Raymond H Kim, Kym M Boycott, Wendy J Ungar, Jasmin Bhawra, Viji Venkataramanan, Robin Z Hayeems, Gregory Costain, Caitlin Chisholm, Taila Hartley, Roberto Mendoza-Londono, Martin Somerville, Oana Caluseriu, Stacy Hewson, Kaitlin J Stanley, Meredith K Gillespie, Natalie del Signore, Gordon McSheffrey, Sarah L Sawyer, Alexandre White-Brown, Stephanie Telesca
Published 2025-08-01Get full text
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P161: Impact and evolution of a philanthropic global network providing clinical genomic testing* by Erin Venti, Diane Masser-Frye, Miguel Del Campo, Marilyn Jones, Mario Cornejo-Olivas, Alid Manrique Palomino, Milagros Duenas-Roque, Gioconda Manassero-Morales, Jeny Bazalar-Montoya, Richard Rodriguez, Hildegard Peña Salguero, Mitzy Cervantes, Aime Lumaka, Gerrye Mubungu, Prince Makay, Mamy Ngole, Prosper Tshilobo Lukusa, Samuel Wiafe, Trudy Nyakambangwe, Patience Kuona, Gwen Kandawasvika, Nothando Napata, Adeline Vanderver, Omar Sherbini, Amy Pizzino, Donald Basel, Julie McCarrier, Marwan Shinawi, Nora Urraca, Chester Brown, Fabio Sirchia, Elisa Giorgio, Alan Taylor, Shruti Shenbagam, Ahmad Abou Tayoun, Erin Royer, Lindsey Schmidt, Denise Perry, Akanchha Kesari, Christian Marshall, Anna Pan, Kym Boycott, Meredith Gillespie, Caitlin Chisholm, Vaidehi Jobanputra, Ashley Wilson, Lena Fielding, David Schlesinger, Fernando Kok, Sharon Terry, Ryan Taft
Published 2025-01-01Get full text
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