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545 results

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Page 1
Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.
Koutsofti C, Ioannides M, Polydorou C, Papagregoriou G, Malatras A, Michael G, Hadjiioannou I, Pieri S, Loizidou EM, Eftychiou C, Papasavvas E, Christophides T, Alkelai A, Kapoor M, Shuldiner AR, Avraamides P, Deltas C. Koutsofti C, et al. Among authors: shuldiner ar. Genes (Basel). 2024 Feb 28;15(3):319. doi: 10.3390/genes15030319. Genes (Basel). 2024. PMID: 38540378 Free PMC article.
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E, Shapira G, Shoval S, Israel-Elgali I, Alkelai A, Shuldiner AR, Gonzaga-Jauregui C, Zidan J, Maray T, Shomron N, Friedman E. Avnat E, et al. Among authors: shuldiner ar. Genes (Basel). 2023 Apr 18;14(4):937. doi: 10.3390/genes14040937. Genes (Basel). 2023. PMID: 37107695 Free PMC article.
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Stühn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Liu Z, et al. Hum Mol Genet. 2023 Oct 4;32(20):2981-2995. doi: 10.1093/hmg/ddad124. Hum Mol Genet. 2023. PMID: 37531237
A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Among authors: shuldiner ar. Nature. 2024 May 20. doi: 10.1038/s41586-024-07556-0. Online ahead of print. Nature. 2024. PMID: 38768635
Prevalence of Distal Symmetrical Polyneuropathy by Diabetes Prevention Program Treatment Group, Diabetes Status, Duration of Diabetes, and Cumulative Glycemic Exposure.
Lee CG, Ciarleglio A, Edelstein SL, Crandall JP, Dabelea D, Goldberg RB, Kahn SE, Knowler WC, Ma MT, White NH, Herman WH; Diabetes Prevention Program Research Group. Lee CG, et al. Diabetes Care. 2024 May 1;47(5):810-817. doi: 10.2337/dc23-2009. Diabetes Care. 2024. PMID: 38502874 Clinical Trial.
Missense variants in SORT1 are associated with LDL-C in an Amish population.
Mitok KA, Schueler KL, King SM, Orr J, Ryan KA, Keller MP, Krauss RM, Mitchell BD, Shuldiner AR, Attie AD. Mitok KA, et al. Among authors: shuldiner ar. J Lipid Res. 2023 Dec;64(12):100468. doi: 10.1016/j.jlr.2023.100468. Epub 2023 Oct 31. J Lipid Res. 2023. PMID: 37913995 Free PMC article.
Glucocorticoid Receptor Gene (NR3C1) Polymorphisms and Metabolic Syndrome: Insights from the Mennonite Population.
Kolb KL, Mira ALS, Auer ED, Bucco ID, de Lima E Silva CE, Dos Santos PI, Hoch VB, Oliveira LC, Hauser AB, Hundt JE, Shuldiner AR, Lopes FL, Boysen TJ, Franke A, Pinto LFR, Soares-Lima SC, Kretzschmar GC, Boldt ABW. Kolb KL, et al. Among authors: shuldiner ar. Genes (Basel). 2023 Sep 15;14(9):1805. doi: 10.3390/genes14091805. Genes (Basel). 2023. PMID: 37761945 Free PMC article.
545 results