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Community-Engaged Research - Essential to Addressing Health Inequities.
Wilkins CH, Miller ST, Richmond AN, Carrasquillo O. Wilkins CH, et al. Among authors: carrasquillo o. N Engl J Med. 2023 Nov 23;389(21):1928-1931. doi: 10.1056/NEJMp2307774. Epub 2023 Nov 18. N Engl J Med. 2023. PMID: 37982404 No abstract available.
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
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA; All of Us Research Program Investigators. Venner E, et al. Commun Biol. 2024 Feb 19;7(1):174. doi: 10.1038/s42003-023-05708-y. Commun Biol. 2024. PMID: 38374434 Free PMC article.
Association between SARS-CoV-2 infection and select symptoms and conditions 31 to 150 days after testing among children and adults.
Zhang Y, Romieu-Hernandez A, Boehmer TK, Azziz-Baumgartner E, Carton TW, Gundlapalli AV, Fearrington J, Nagavedu K, Dea K, Moyneur E, Cowell LG, Kaushal R, Mayer KH, Puro J, Rasmussen SA, Thacker D, Weiner MG, Saydah S, Block JP; PCORnet Network Partners. Zhang Y, et al. BMC Infect Dis. 2024 Feb 10;24(1):181. doi: 10.1186/s12879-024-09076-8. BMC Infect Dis. 2024. PMID: 38341566 Free PMC article.
189 results