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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations by Shilpa Nadimpalli Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julian A. Martinez-Agosto, Richard Sherwood, Joel Krier, Isaac S. Kohane, Undiagnosed Diseases Network, Shamil R. Sunyaev
Published 2025-08-01Get full text
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P623: BeginNGS: Nest digital genetics navigator facilitates scale while preserving participant experience and education by Brandan Schultz, Rebecca Reimers, Ileana Matta, Liana Protopsaltis, Lauren Olsen, Moran Snir, Laura Hayward, Eric Blincow, Corrine Blucher, Jeanne Carroll, Sara Caylor, Thomas Defay, Katarzyna (Kasia) Ellsworth, Annette Feigenbaum, Erwin Frise, Lucia Guidugli, Christian Hansen, Chris Kunard, YongHyun Kwon, Jennie Le, Jeremy Leipzig, Jerica Lenberg, Yupu Liang, Shyamal Mehtalia, William Mowrey, Hung Nguyen, Danny Oh, Gunter Scharer, Jennifer Schleit, Emilie Simmons, Laurie Smith, Lucita Van Der Kraan, Kristen Wigby, Mary Willis, Meredith Wright, Mark Yandell, Stephen Kingsmore
Published 2025-01-01Get full text
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