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Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL by Elizabeth Carbonell, Sarah L. Stenton, Vijay S. Ganesh, Jialan Ma, Grace E. VanNoy, Lynn Pais, John N. Gaitanis, Melanie C. O’Leary, Heidi L. Rehm, Anne O’Donnell-Luria
Published 2025-04-01
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P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease* by Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm
Published 2024-01-01
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