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The "All of Us" Research Program.
All of Us Research Program Investigators; Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW, Jenkins G, Dishman E. All of Us Research Program Investigators, et al. Among authors: philippakis a. N Engl J Med. 2019 Aug 15;381(7):668-676. doi: 10.1056/NEJMsr1809937. N Engl J Med. 2019. PMID: 31412182 Free PMC article.
National Human Genome Research Institute Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians.
Hall JL, Honeycutt S, Gonzalez N, O'Donnell-Luria A, Overby Taylor C, Stevens L, Philippakis AA, Schatz MC. Hall JL, et al. Among authors: philippakis aa. Circ Genom Precis Med. 2023 Jun;16(3):275-276. doi: 10.1161/CIRCGEN.122.003936. Epub 2023 Apr 4. Circ Genom Precis Med. 2023. PMID: 37013830 No abstract available.
A framework for individualized splice-switching oligonucleotide therapy.
Kim J, Woo S, de Gusmao CM, Zhao B, Chin DH, DiDonato RL, Nguyen MA, Nakayama T, Hu CA, Soucy A, Kuniholm A, Thornton JK, Riccardi O, Friedman DA, El Achkar CM, Dash Z, Cornelissen L, Donado C, Faour KNW, Bush LW, Suslovitch V, Lentucci C, Park PJ, Lee EA, Patterson A, Philippakis AA, Margus B, Berde CB, Yu TW. Kim J, et al. Among authors: philippakis aa. Nature. 2023 Jul;619(7971):828-836. doi: 10.1038/s41586-023-06277-0. Epub 2023 Jul 12. Nature. 2023. PMID: 37438524 Free PMC article.
Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease.
Aragam KG, Dobbyn A, Judy R, Chaffin M, Chaudhary K, Hindy G, Cagan A, Finneran P, Weng LC, Loos RJF, Nadkarni G, Cho JH, Kember RL, Baras A, Reid J, Overton J, Philippakis A, Ellinor PT, Weiss ST, Rader DJ, Lubitz SA, Smoller JW, Karlson EW, Khera AV, Kathiresan S, Do R, Damrauer SM, Natarajan P. Aragam KG, et al. Among authors: philippakis a. J Am Coll Cardiol. 2020 Jun 9;75(22):2769-2780. doi: 10.1016/j.jacc.2020.04.027. J Am Coll Cardiol. 2020. PMID: 32498804 Free PMC article.
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, Lai C, Brockman D, Philippakis A, Ellinor PT, Cassa CA, Lebo M, Ng K, Lander ES, Zhou AY, Kathiresan S, Khera AV. Fahed AC, et al. Among authors: philippakis a. Nat Commun. 2020 Aug 20;11(1):3635. doi: 10.1038/s41467-020-17374-3. Nat Commun. 2020. PMID: 32820175 Free PMC article.
The All of Us Research Program: Data quality, utility, and diversity.
Ramirez AH, Sulieman L, Schlueter DJ, Halvorson A, Qian J, Ratsimbazafy F, Loperena R, Mayo K, Basford M, Deflaux N, Muthuraman KN, Natarajan K, Kho A, Xu H, Wilkins C, Anton-Culver H, Boerwinkle E, Cicek M, Clark CR, Cohn E, Ohno-Machado L, Schully SD, Ahmedani BK, Argos M, Cronin RM, O'Donnell C, Fouad M, Goldstein DB, Greenland P, Hebbring SJ, Karlson EW, Khatri P, Korf B, Smoller JW, Sodeke S, Wilbanks J, Hentges J, Mockrin S, Lunt C, Devaney SA, Gebo K, Denny JC, Carroll RJ, Glazer D, Harris PA, Hripcsak G, Philippakis A, Roden DM; All of Us Research Program. Ramirez AH, et al. Among authors: philippakis a. Patterns (N Y). 2022 Aug 12;3(8):100570. doi: 10.1016/j.patter.2022.100570. eCollection 2022 Aug 12. Patterns (N Y). 2022. PMID: 36033590 Free PMC article.
Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis.
Deflaux N, Selvaraj MS, Condon HR, Mayo K, Haidermota S, Basford MA, Lunt C, Philippakis AA, Roden DM, Denny JC, Musick A, Collins R, Allen N, Effingham M, Glazer D, Natarajan P, Bick AG. Deflaux N, et al. Among authors: philippakis aa. Nat Commun. 2023 Sep 5;14(1):5419. doi: 10.1038/s41467-023-41185-x. Nat Commun. 2023. PMID: 37669985 Free PMC article.
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.
Shea J, Agarwala V, Philippakis AA, Maguire J, Banks E, Depristo M, Thomson B, Guiducci C, Onofrio RC, Kathiresan S, Gabriel S, Burtt NP, Daly MJ, Groop L, Altshuler D; Myocardial Infarction Genetics Consortium. Shea J, et al. Among authors: philippakis aa. Nat Genet. 2011 Jul 24;43(8):801-5. doi: 10.1038/ng.871. Nat Genet. 2011. PMID: 21775993 Free PMC article.
The Matchmaker Exchange: a platform for rare disease gene discovery.
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. Philippakis AA, et al. Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858. Hum Mutat. 2015. PMID: 26295439 Free PMC article.
96 results