Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

Get full text

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

Get full text