P747: The collection and use of patient sex, gender, race, ethnicity, and ancestry data among US-based clinical genomics laboratories by Katie Golden-Grant, Sarah Clowes Candadai, Darci Sternen, Katrina Kotzer

Get full text

P637: Reactive curation of monogenic gene-disease associations in a rapid genome sequencing lab* by Katie Golden-Grant, Shahad Olsson, Deepali Shinde, Katarzyna (Kasia) Ellsworth, Lucia Guidugli, Rishona Lavy, Arivudainambi Ramalingam, Kristina Robinson, Jennifer Schleit

Get full text

O48: International Consortium on Newborn Sequencing (ICoNS) consensus guidelines for gene selection in genomic newborn screening programs by Nina Gold, Julie Yeo, Derek Ansel, Mei Baker, Jorune Balciuniene, Jonathan Berg, François Boemer, Wendy Chung, Heidi Cope, David Eckstein, Nicolas Encina, Laurence Faivre, Alessandra Ferlini, Judit Garcia-Villoria, Michael Gelb, Jose Manuel Gonzalez De Aledo Castillo, Katie Golden-Grant, Thomas Minten, Richard Parad, Nidhi Shah, Zornitza Stark, Kristen Sund, Petros Tsipouras, Meekai To, Lilian Downie

Get full text

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts by Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass

Get full text