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91 results

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Page 1
Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.
Akbari P, Gilani A, Sosina O, Kosmicki JA, Khrimian L, Fang YY, Persaud T, Garcia V, Sun D, Li A, Mbatchou J, Locke AE, Benner C, Verweij N, Lin N, Hossain S, Agostinucci K, Pascale JV, Dirice E, Dunn M; Regeneron Genetics Center; DiscovEHR Collaboration; Kraus WE, Shah SH, Chen YI, Rotter JI, Rader DJ, Melander O, Still CD, Mirshahi T, Carey DJ, Berumen-Campos J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Balasubramanian S, Hawes A, Jones M, Zambrowicz B, Murphy AJ, Paulding C, Coppola G, Overton JD, Reid JG, Shuldiner AR, Cantor M, Kang HM, Abecasis GR, Karalis K, Economides AN, Marchini J, Yancopoulos GD, Sleeman MW, Altarejos J, Della Gatta G, Tapia-Conyer R, Schwartzman ML, Baras A, Ferreira MAR, Lotta LA. Akbari P, et al. Science. 2021 Jul 2;373(6550):eabf8683. doi: 10.1126/science.abf8683. Science. 2021. PMID: 34210852 Free PMC article.
Conflict of Interest Disclosures.
[No authors listed] [No authors listed] Global Spine J. 2023 May;13(2_suppl):568S-591S. doi: 10.1177/21925682231173597. Global Spine J. 2023. PMID: 37222100 Free PMC article. No abstract available.
Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.
Akbari P, Sosina OA, Bovijn J, Landheer K, Nielsen JB, Kim M, Aykul S, De T, Haas ME, Hindy G, Lin N, Dinsmore IR, Luo JZ, Hectors S, Geraghty B, Germino M, Panagis L, Parasoglou P, Walls JR, Halasz G, Atwal GS; Regeneron Genetics Center; DiscovEHR Collaboration; Jones M, LeBlanc MG, Still CD, Carey DJ, Giontella A, Orho-Melander M, Berumen J, Kuri-Morales P, Alegre-Díaz J, Torres JM, Emberson JR, Collins R, Rader DJ, Zambrowicz B, Murphy AJ, Balasubramanian S, Overton JD, Reid JG, Shuldiner AR, Cantor M, Abecasis GR, Ferreira MAR, Sleeman MW, Gusarova V, Altarejos J, Harris C, Economides AN, Idone V, Karalis K, Della Gatta G, Mirshahi T, Yancopoulos GD, Melander O, Marchini J, Tapia-Conyer R, Locke AE, Baras A, Verweij N, Lotta LA. Akbari P, et al. Nat Commun. 2022 Aug 23;13(1):4844. doi: 10.1038/s41467-022-32398-7. Nat Commun. 2022. PMID: 35999217 Free PMC article.
Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone.
Dunn ME, Kithcart A, Kim JH, Ho AJ, Franklin MC, Romero Hernandez A, de Hoon J, Botermans W, Meyer J, Jin X, Zhang D, Torello J, Jasewicz D, Kamat V, Garnova E, Liu N, Rosconi M, Pan H, Karnik S, Burczynski ME, Zheng W, Rafique A, Nielsen JB, De T, Verweij N, Pandit A, Locke A, Chalasani N, Melander O, Schwantes-An TH; Penn Medicine Biobank; Baras A, Lotta LA, Musser BJ, Mastaitis J, Devalaraja-Narashimha KB, Rankin AJ, Huang T, Herman G, Olson W, Murphy AJ, Yancopoulos GD, Olenchock BA, Morton L. Dunn ME, et al. Nature. 2024 Sep;633(8030):654-661. doi: 10.1038/s41586-024-07903-1. Epub 2024 Sep 11. Nature. 2024. PMID: 39261724 Free PMC article. Clinical Trial.
Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes.
O'Neill K, Pleasance E, Fan J, Akbari V, Chang G, Dixon K, Csizmok V, MacLennan S, Porter V, Galbraith A, Grisdale CJ, Culibrk L, Dupuis JH, Corbett R, Hopkins J, Bowlby R, Pandoh P, Smailus DE, Cheng D, Wong T, Frey C, Shen Y, Lewis E, Paulin LF, Sedlazeck FJ, Nelson JMT, Chuah E, Mungall KL, Moore RA, Coope R, Mungall AJ, McConechy MK, Williamson LM, Schrader KA, Yip S, Marra MA, Laskin J, Jones SJM. O'Neill K, et al. Cell Genom. 2024 Nov 13;4(11):100674. doi: 10.1016/j.xgen.2024.100674. Epub 2024 Oct 14. Cell Genom. 2024. PMID: 39406235 Free PMC article.
Viral and Host Factors Are Associated With Mortality in Hospitalized Patients With COVID-19.
Aggarwal NR, Nordwall J, Braun DL, Chung L, Coslet J, Der T, Eriobu N, Ginde AA, Hayanga AJ, Highbarger H, Holodniy M, Horcajada JP, Jain MK, Kim K, Laverdure S, Lundgren J, Natarajan V, Nguyen HH, Pett SL, Phillips A, Poulakou G, Price DA, Robinson P, Rogers AJ, Sandkovsky U, Shaw-Saliba K, Sturek JM, Trautner BW, Waters M, Reilly C; ACTIV-3/TICO Study Group. Aggarwal NR, et al. Clin Infect Dis. 2024 Jun 14;78(6):1490-1503. doi: 10.1093/cid/ciad780. Clin Infect Dis. 2024. PMID: 38376212 Free PMC article. Clinical Trial.
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Rodriguez-Flores JL, Khalid S, Parikshak N, Rasheed A, Ye B, Kapoor M, Backman J, Sepehrband F, Gioia SAD, Gelfman S, De T, Banerjee N, Sharma D, Martinez H, Castaneda S, D'Ambrosio D, Zhang XA, Xun P, Tsai E, Tsai IC; Regeneron Genetics Center; Khan MZ, Jahanzaib M, Mian MR, Liaqat MB, Mahmood K, Salam TU, Hussain M, Iqbal J, Aslam F, Cantor MN, Tzoneva G, Overton J, Marchini J, Reid JG, Baras A, Verweij N, Lotta LA, Coppola G, Karalis K, Economides A, Fazio S, Liedtke W, Danesh J, Kamal A, Frossard P, Coleman T, Shuldiner AR, Saleheen D. Rodriguez-Flores JL, et al. Nat Commun. 2024 Sep 13;15(1):8029. doi: 10.1038/s41467-024-51819-3. Nat Commun. 2024. PMID: 39271666 Free PMC article.
Sex Differences in the Genetic Causes of Dilated Cardiomyopathy.
Mangino M, McGurk KA, Theotokis P, Buchan RJ, Stockwell CR, Thami PK, Jennings E, Wan E, Enright C, Adlan A, Akbari T, Baksi J, Barton PJR, Berry C, Carr-White G, Chiribiri A, Cooper R, Dattani A, Flett AS, Gardner RS, Greenwood JP, Halliday BP, Hammersley DJ, Hutchings DC, Mahmod M, Marrow B, McCann GP, Motwani M, Neubauer S, O' Regan DP, Page SP, Pantazis A, Peebles C, Raman B, Swoboda PP, Varnava A, Venetucci L, Watkins H, Wright D, Prasad SK, Cook SA, Ware JS, Tayal UP; GO-DCM Investigators. Mangino M, et al. J Am Coll Cardiol. 2025 Aug 5;86(5):400-403. doi: 10.1016/j.jacc.2025.04.068. J Am Coll Cardiol. 2025. PMID: 40738566 Free PMC article. No abstract available.
Temperature-Inducible Precision-Guided Sterile Insect Technique.
Kandul NP, Liu J, Akbari OS. Kandul NP, et al. CRISPR J. 2021 Dec;4(6):822-835. doi: 10.1089/crispr.2021.0077. Epub 2021 Nov 3. CRISPR J. 2021. PMID: 34735288 Free PMC article.
To advance traditional methods for scaling the generation of sterile males, we previously described a CRISPR-mediated precision-guided sterile insect technique (pgSIT), in which Cas9 and gRNA strains are genetically crossed to generate sterile males for mass release. While effect …
To advance traditional methods for scaling the generation of sterile males, we previously described a CRISPR-mediated precision-guided steri …
91 results