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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: jackson a. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: jackson ap. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
Multi-omic Analysis of Uterine Leiomyomas in Self-Described Black and White Women: Molecular Insights into Health Disparities.
Bateman NW, Abulez T, Tarney CM, Bariani MV, Driscoll JA, Soltis AR, Zhou M, Hood BL, Litzi T, Conrads KA, Jackson A, Oliver J, Ganakammal SR, Schneider F, Dalgard CL, Wilkerson MD, Smith B, Borda V, O'Connor T, Segars J, Shobeiri SA, Phippen NT, Darcy KM, Al-Hendy A, Conrads TP, Maxwell GL. Bateman NW, et al. Among authors: jackson a. Am J Obstet Gynecol. 2024 May 7:S0002-9378(24)00577-5. doi: 10.1016/j.ajog.2024.04.051. Online ahead of print. Am J Obstet Gynecol. 2024. PMID: 38723985
Testing novel strategies for patients hospitalised with HIV-associated disseminated tuberculosis (NewStrat-TB): protocol for a randomised controlled trial.
Namale PE, Boloko L, Vermeulen M, Haigh KA, Bagula F, Maseko A, Sossen B, Lee-Jones S, Msomi Y, McIlleron H, Mnguni AT, Crede T, Szymanski P, Naude J, Ebrahim S, Vallie Y, Moosa MS, Bandeker I, Hoosain S, Nicol MP, Samodien N, Centner C, Dowling W, Denti P, Gumedze F, Little F, Parker A, Price B, Schietekat D, Simmons B, Hill A, Wilkinson RJ, Oliphant I, Hlungulu S, Apolisi I, Toleni M, Asare Z, Mpalali MK, Boshoff E, Prinsloo D, Lakay F, Bekiswa A, Jackson A, Barnes A, Johnson R, Wasserman S, Maartens G, Barr D, Schutz C, Meintjes G. Namale PE, et al. Among authors: jackson a. Trials. 2024 May 8;25(1):311. doi: 10.1186/s13063-024-08119-4. Trials. 2024. PMID: 38720383 Free PMC article.
Immune memory shapes human polyclonal antibody responses to H2N2 vaccination.
Yang YR, Han J, Perrett HR, Richey ST, Rodriguez AJ, Jackson AM, Gillespie RA, O'Connell S, Raab JE, Cominsky LY, Chopde A, Kanekiyo M, Houser KV, Chen GL, McDermott AB, Andrews SF, Ward AB. Yang YR, et al. Among authors: jackson am. Cell Rep. 2024 May 7;43(5):114171. doi: 10.1016/j.celrep.2024.114171. Online ahead of print. Cell Rep. 2024. PMID: 38717904
Advancing genomics to improve health equity.
Madden EB, Hindorff LA, Bonham VL, Akintobi TH, Burchard EG, Baker KE, Begay RL, Carpten JD, Cox NJ, Di Francesco V, Dillard DA, Fletcher FE, Fullerton SM, Garrison NA, Hammack-Aviran CM, Hiratsuka VY, Hildreth JEK, Horowitz CR, Hughes Halbert CA, Inouye M, Jackson A, Landry LG, Kittles RA, Leek JT, Limdi NA, Lockhart NC, Ofili EO, Pérez-Stable EJ, Sabatello M, Saulsberry L, Schools LE, Troyer JL, Wilfond BS, Wojcik GL, Cho JH, Lee SS, Green ED. Madden EB, et al. Among authors: jackson a. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01711-z. Online ahead of print. Nat Genet. 2024. PMID: 38684898 Review.
5,065 results