A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases von Furuta, Yutaka, Tinker, Rory J, Hamid, Rizwan, Cogan, Joy D, Ezell, Kimberly M, Oglesbee, Devin, DeBerardinis, Ralph J, Phillips, 3rd, John A

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First identification of mammalian orthoreovirus type 3 by gut virome analysis in diarrheic child in Brazil von Rosa, Ulisses Alves, Ribeiro, Geovani de Oliveira, Villanova, Fabiola, Luchs, Adriana, Milagres, Flávio Augusto de Pádua, Komninakis, Shirley Vasconcelos, Tahmasebi, Roozbeh, Lobato, Márcia Cristina Alves Brito Sayão, Brustulin, Rafael, Chagas, Rogério Togisaki das, Abrão, Maria de Fátima Neves dos Santos, Soares, Cassia Vitória de Deus Alves, Tinker, Rory J, Pandey, Ramendra Pati, Raj, V. Samuel, Sabino, Ester Cerdeira, Deng, Xutao, Delwart, Eric, Costa, Antonio Charlys da, Leal, Élcio

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Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records von Tinker, Rory J., Peterson, Josh, Bastarache, Lisa

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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... von Ezell, Kimberly M., Furuta, Yutaka, Oglesbee, Devin, Pivnick, Eniko K., Rinker, David, Sheehan, Jonathan H., Tinker, Rory J., Hamid, Rizwan, Cogan, Joy D., Rives, Lynette, Neumann, Serena, Corner, Brian, Koziura, Mary, Phillips, John A.

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A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype von Tinker, Rory J., Guess, Tiffany, Rinker, David C., Sheehan, Jonathan H., Lubarsky, Daniel, Porath, Binu, Mosera, Mackenzie, Mayo, Ping, Solem, Emily, Lee, Laura A., Sharam, Asha, Brault, Jennifer

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Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in Brazil von Tahmasebi, Roozbeh, da Costa, Antonio Charlys, Tardy, Kaelan, Tinker, Rory J., de Padua Milagres, Flavio Augusto, Brustulin, Rafael, Rodrigues Teles, Maria da Aparecida, das Chagas, Rogerio Togisaki, de Deus Alves Soares, Cassia Vitoria, Aranha Watanabe, Aripuana Sakurada, Alencar, Cecilia Salete, Villanova, Fabiola, Deng, Xutao, Delwart, Eric, Luchs, Adriana, Leal, Elcio, Sabino, Ester Cerdeira

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Current and Emerging Clinical Treatment in Mitochondrial Disease von Tinker, Rory J., Lim, Albert Z., Stefanetti, Renae J., McFarland, Robert

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Diagnostic delay in monogenic disease: A scoping review von Tinker, Rory J., Fisher, Miles, Gimeno, Alex F., Gill, Kayce, Ivey, Camille, Peterson, Josh F., Bastarache, Lisa

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Early reattenders to the paediatric emergency department: A prospective cohort study and multivariate analysis von Stokle, Matthew, Tinker, Rory J, Munro, Samuel P, Mullen, Niall

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Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder von Tinker, Rory J, Burghel, George J, Garg, Shruti, Steggall, Maggie, Cuvertino, Sara, Banka, Siddharth

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Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis von Tinker, Rory J., Falk, Marni J., Goldstein, Amy, George-Sankoh, Ibrahim, Xiao, Rui, Adang, Laura, Ganetzky, Rebecca

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Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network von Gimeno, Alex F, Tinker, Rory J, Furuta, Yukata, Phillips, 3rd, John A

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Data from electronic healthcare records expand our understanding of X‐linked genetic diseases von Tinker, Rory J., Bastarache, Lisa, Ezell, Kimberly, Neumann, Serena M., Furuta, Yutaka, Morgan, Karee A., Phillips, John A.

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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase von Jones, Amy G., Aquilino, Matilde, Tinker, Rory J., Duncan, Laura, Jenkins, Zandra, Carvill, Gemma L., DeWard, Stephanie J., Grange, Dorothy K., Hajianpour, MJ, Halliday, Benjamin J., Holder-Espinasse, Muriel, Horvath, Judit, Maitz, Silvia, Nigro, Vincenzo, Morleo, Manuela, Paul, Victoria, Spencer, Careni, Esterhuizen, Alina I., Polster, Tilman, Spano, Alice, Gómez-Lozano, Inés, Kumar, Abhishek, Poke, Gemma, Phillips, John A., Underhill, Hunter R., Gimenez, Gregory, Namba, Takashi, Robertson, Stephen P.

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Predictors of mortality and disability in stroke-associated pneumonia von Tinker, Rory J., Smith, Craig J., Heal, Calvin, Bettencourt-Silva, Joao H., Metcalf, Anthony K., Potter, John F., Myint, Phyo K.

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The contribution of mosaicism to genetic diseases and de novo pathogenic variants von Tinker, Rory J, Bastarache, Lisa, Ezell, Kimberly, Kobren, Shilpa Nadimpalli, Esteves, Cecilia, Rosenfeld, Jill A, Macnamara, Ellen F, Hamid, Rizwan, Cogan, Joy D, Rinker, David, Mukharjee, Souhrid, Glass, Ian, Dipple, Katrina, Phillips, 3rd, John A

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Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics von Shuey, Megan M, Stead, William W, Aka, Ida, Barnado, April L, Bastarache, Julie A, Brokamp, Elly, Campbell, Meredith, Carroll, Robert J, Goldstein, Jeffrey A, Lewis, Adam, Malow, Beth A, Mosley, Jonathan D, Osterman, Travis, Padovani-Claudio, Dolly A, Ramirez, Andrea, Roden, Dan M, Schuler, Bryce A, Siew, Edward, Sucre, Jennifer, Thomsen, Isaac, Tinker, Rory J, Van Driest, Sara, Walsh, Colin, Warner, Jeremy L, Wells, Quinn S, Wheless, Lee, Bastarache, Lisa

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Integrating a Parenting Assessment into Practice: Pediatric Providers’ Time and Perspectives von J Cooke, Amber, Attar, Tahra I, L Carr, Victoria, C Whitney, Anna, J Tinker, Rory, L Carlson, Kathryn, M Stoppelbein, Merrill, A Jana, Laura, J Scholer, Seth

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Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network von Borja, Nicholas A, Tinker, Rory J, Bivona, Stephanie A, Smith, Carson A, Locker, Theodore Krijnse, Fernandes, Samuela, Phillips, 3rd, John A, Stoler, Justin, Taylor, Herman, Zuchner, Stephan, Tekin, Mustafa

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Probable digenic inheritance of Diamond–Blackfan anemia von Furuta, Yutaka, Tinker, Rory J, Gulsevin, Alican, Neumann, Serena M., Hamid, Rizwan, Cogan, Joy D., Rives, Lynette, Liu, Qi, Chen, Hua‐Chang, Joos, Karen M., Phillips, John A.

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