2024

Blue, Elizabeth E, Huang, Samuel J, Khan, Alyna, Golden-Grant, Katie, Boyd, Brenna, Rosenthal, Elisabeth A, Gillentine, Madelyn A, Fleming, Leah R, Adams, David R, Wolfe, Lynne, Allworth, Aimee, Bamshad, Michael J, Caruana, Nikeisha ORCID: https://orcid.org/0000-0002-0817-1686, Chanprasert, Sirisak, Chen, Jingheng, Dargie, Nitsuh, Doherty, Daniel, Friederich, Marisa W, Hisama, Fuki M, Horike-Pyne, Martha, Lee, Jessica C, Donovan, Tonia E, Hock, Daniella H, Leppig, Kathleen A, Miller, Danny E, Mirzaa, Ghayda, Ranchalis, Jane, Raskind, Wendy H, Michel, Cole R, Reisdorph, Richard, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Stroud, David A ORCID: https://orcid.org/0000-0002-2048-3383, Sybert, Virginia P, Wener, Mark H, Stergachis, Andrew B, Lam, Christina T, Jarvik, Gail P, Dipple, Katrina A, Van Hove, Johan LK and Glass, Ian A (2024) Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts. Rare, 2. ISSN 2950-0087