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588 results

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Page 1
A population-scale temporal case-control evaluation of COVID-19 disease phenotype and related outcome rates in patients with cancer in England (UKCCP).
Starkey T, Ionescu MC, Tilby M, Little M, Burke E, Fittall MW, Khan S, Liu JKH, Platt JR, Mew R, Tripathy AR, Watts I, Williams ST, Appanna N, Al-Hajji Y, Barnard M, Benny L, Burnett A, Bytyci J, Cattell EL, Cheng V, Clark JJ, Eastlake L, Gerrand K, Ghafoor Q, Grumett S, Harper-Wynne C, Kahn R, Lee AJX, Lomas O, Lydon A, Mckenzie H; NCRI Consumer Forum; Panneerselvam H, Pascoe JS, Patel G, Patel V, Potter VA, Randle A, Rigg AS, Robinson TM, Roylance R, Roques TW, Rozmanowski S, Roux RL, Shah K, Sheehan R, Sintler M, Swarup S, Taylor H, Tillett T, Tuthill M, Williams S, Ying Y, Beggs A, Iveson T, Lee SM, Middleton G, Middleton M, Protheroe A, Fowler T, Johnson P, Lee LYW. Starkey T, et al. Among authors: beggs a. Sci Rep. 2023 Jul 25;13(1):11327. doi: 10.1038/s41598-023-36990-9. Sci Rep. 2023. PMID: 37491478 Free PMC article.
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
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
Disentangling oncogenic amplicons in esophageal adenocarcinoma.
Ng AWT, McClurg DP, Wesley B, Zamani SA, Black E, Miremadi A, Giger O, Hoopen RT, Devonshire G, Redmond AM, Grehan N, Jammula S, Blasko A, Li X, Aparicio S, Tavaré S; Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium; Nowicki-Osuch K, Fitzgerald RC. Ng AWT, et al. Nat Commun. 2024 May 14;15(1):4074. doi: 10.1038/s41467-024-47619-4. Nat Commun. 2024. PMID: 38744814 Free PMC article.
Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.
Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, Moghadaszadeh B, Beggs AH, Liu X, Perrella MA, Agrawal PB. Li Q, et al. Among authors: beggs ah. J Cachexia Sarcopenia Muscle. 2024 May 9. doi: 10.1002/jcsm.13470. Online ahead of print. J Cachexia Sarcopenia Muscle. 2024. PMID: 38725372 Free article.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: beggs ah. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148
588 results