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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes by Zishan Wang, Xiao Fan, Yufeng Shen, Meghana S Pagadala, Rebecca Signer, Kamil J. Cygan, William G. Fairbrother, Hannah Carter, Wendy K. Chung, Kuan-lin Huang
Published 2021-09-01
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Novel NUDT2 variant causes intellectual disability and polyneuropathy by Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew Herzog, Robert Freundlich, Undiagnosed Diseases Network, J. Brandon Birath, Yurivia Cervantes‐Manzo, Julian A. Martinez‐Agosto, Christina Palmer, Stanley F. Nelson, Brent L. Fogel, Shri K. Mishra
Published 2020-11-01
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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network by Heidi Cope, Rebecca Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch, Emily G. Kelley, Jennifer A. Sullivan, Ellen Macnamara, Sharyn Lincoln, Katie Golden‐Grant, Undiagnosed Diseases Network, James P. Orengo, Gary Clark, Lindsay C. Burrage, Jennifer E. Posey, Jaya Punetha, Amy Robertson, Joy Cogan, John A. Phillips III, Julian Martinez‐Agosto, Vandana Shashi
Published 2020-10-01
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