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Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Li S, Zhao S, Sinson JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage LC, Weisz-Hubshman M, Ketkar S, Craigen WJ, Clark GD, Lalani S, Bacino CA, Machol K, Chao HT, Potocki L, Emrick L, Sheppard J, Nguyen MTT, Khoramnia A, Hernandez PP, Nagamani SC, Liu Z; Undiagnosed Diseases Network; Eng CM, Lee B, Liu P. Li S, et al. Among authors: worley kc. Am J Hum Genet. 2024 May 2;111(5):841-862. doi: 10.1016/j.ajhg.2024.03.007. Epub 2024 Apr 8. Am J Hum Genet. 2024. PMID: 38593811
Evaluating the real-world effectiveness of belimumab in patients with SLE using SLE-related laboratory values and rheumatoid arthritis-derived disease activity measures: RAPID3, swollen joint count and tender joint count.
Germain G, Worley K, MacKnight SD, Rubin B, Bell CF, Laliberté F, Urosevic A, Sheng Duh M, Concoff A. Germain G, et al. Among authors: worley k. Lupus Sci Med. 2024 Apr 3;11(1):e001111. doi: 10.1136/lupus-2023-001111. Lupus Sci Med. 2024. PMID: 38575172 Free PMC article.
254 results