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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. Among authors: patterson k. Commun Biol. 2024 Feb 19;7(1):174. doi: 10.1038/s42003-023-05708-y. Commun Biol. 2024. PMID: 38374434 Free PMC article.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Among authors: patterson ke. Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Am J Hum Genet. 2015. PMID: 26166479 Free PMC article. Review.
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.
Kim DS, Burt AA, Ranchalis JE, Wilmot B, Smith JD, Patterson KE, Coe BP, Li YK, Bamshad MJ, Nikolas M, Eichler EE, Swanson JM, Nigg JT, Nickerson DA, Jarvik GP; University of Washington Center for Mendelian Genomics. Kim DS, et al. Among authors: patterson ke. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):381-389. doi: 10.1002/ajmg.b.32527. Epub 2017 Mar 22. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28332277 Free PMC article.
Genomic data in the All of Us Research Program.
All of Us Research Program Genomics Investigators. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. Nature. 2024. PMID: 38374255 Free PMC article.
Defining and Reducing Variant Classification Disparities.
Dawood M, Fayer S, Pendyala S, Post M, Kalra D, Patterson K, Venner E, Muffley LA, Fowler DM, Rubin AF, Posey JE, Plon SE, Lupski JR, Gibbs RA, Starita LM, Robles-Espinoza CD, Coyote-Maestas W, Gallego Romero I. Dawood M, et al. Among authors: patterson k. medRxiv [Preprint]. 2024 Apr 12:2024.04.11.24305690. doi: 10.1101/2024.04.11.24305690. medRxiv. 2024. PMID: 38645101 Free PMC article. Preprint.
Author Correction: 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. Among authors: patterson k. Commun Biol. 2024 Jun 10;7(1):713. doi: 10.1038/s42003-024-06408-x. Commun Biol. 2024. PMID: 38858496 Free PMC article. No abstract available.
Frequency of pharmacogenomic variation and medication exposures among All of Us Participants.
Haddad A, Radhakrishnan A, McGee S, Smith JD, Karnes JH, Venner E, Wheeler MM, Patterson K, Walker K, Kalra D, Kalla SE, Wang Q, Gibbs RA, Jarvik GP, Sanchez J, Musick A, Ramirez AH, Denny JC, Empey PE. Haddad A, et al. Among authors: patterson k. medRxiv [Preprint]. 2024 Jun 13:2024.06.12.24304664. doi: 10.1101/2024.06.12.24304664. medRxiv. 2024. PMID: 38946996 Free PMC article. Preprint.
1,159 results