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Page 1
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: goldstein db. 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.
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: goldstein db. 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.
Rare genetic causes of complex kidney and urological diseases.
Groopman EE, Povysil G, Goldstein DB, Gharavi AG. Groopman EE, et al. Among authors: goldstein db. Nat Rev Nephrol. 2020 Nov;16(11):641-656. doi: 10.1038/s41581-020-0325-2. Epub 2020 Aug 17. Nat Rev Nephrol. 2020. PMID: 32807983 Free PMC article. Review.
Risk Variants in the Exomes of Children With Critical Illness.
Motelow JE, Lippa NC, Hostyk J, Feldman E, Nelligan M, Ren Z, Alkelai A, Milner JD, Gharavi AG, Tang Y, Goldstein DB, Kernie SG. Motelow JE, et al. Among authors: goldstein db. JAMA Netw Open. 2022 Oct 3;5(10):e2239122. doi: 10.1001/jamanetworkopen.2022.39122. JAMA Netw Open. 2022. PMID: 36306130 Free PMC article.
Genetic testing in individuals with cerebral palsy.
May HJ, Fasheun JA, Bain JM, Baugh EH, Bier LE, Revah-Politi A; New York Presbyterian Hospital/Columbia University Irving Medical Center Genomics Team; Roye DP Jr, Goldstein DB, Carmel JB. May HJ, et al. Among authors: goldstein db. Dev Med Child Neurol. 2021 Dec;63(12):1448-1455. doi: 10.1111/dmcn.14948. Epub 2021 Jun 10. Dev Med Child Neurol. 2021. PMID: 34114234 Free PMC article.
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Karczewski KJ, MacArthur DG. Wang Q, et al. Nat Commun. 2020 May 27;11(1):2539. doi: 10.1038/s41467-019-12438-5. Nat Commun. 2020. PMID: 32461613 Free PMC article.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664
A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Karczewski KJ, MacArthur DG. Wang Q, et al. Nat Commun. 2021 Feb 2;12(1):827. doi: 10.1038/s41467-021-21077-8. Nat Commun. 2021. PMID: 33531481 Free PMC article. No abstract available.
Guidelines for investigating causality of sequence variants in human disease.
MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. MacArthur DG, et al. Among authors: goldstein db. Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127. Nature. 2014. PMID: 24759409 Free PMC article.
545 results