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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 Free PMC article.
Identification and characterization of human GDF15 knockouts.
Gurtan AM, Khalid S, Koch C, Khan MZ, Lamarche LB, Splawski I, Dolan E, Carrion AM, Zessis R, Clement ME, Chen Z, Lindsley LD, Chiu YH, Streeper RS, Denning DP, Goldfine AB, Doyon B, Abbasi A, Harrow JL, Tsunoyama K, Asaumi M, Kou I, Shuldiner AR, Rodriguez-Flores JL, Rasheed A, Jahanzaib M, Mian MR, Liaqat MB, Raza SS, Sultana R, Jalal A, Saeed MH, Abbas S, Memon FR, Ishaq M, Dominy JE, Saleheen D. Gurtan AM, et al. Among authors: shuldiner ar. Nat Metab. 2024 Oct;6(10):1913-1921. doi: 10.1038/s42255-024-01135-3. Epub 2024 Sep 26. Nat Metab. 2024. PMID: 39327531
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. Among authors: shuldiner ar. Nat Commun. 2024 Sep 13;15(1):8029. doi: 10.1038/s41467-024-51819-3. Nat Commun. 2024. PMID: 39271666 Free PMC article.
Author Correction: Rare genetic coding variants associated with human longevity and protection against age-related diseases.
Lin JR, Sin-Chan P, Napolioni V, Torres GG, Mitra J, Zhang Q, Jabalameli MR, Wang Z, Nguyen N, Gao T; Regeneron Genetics Center; Laudes M, Görg S, Franke A, Nebel A, Greicius MD, Atzmon G, Ye K, Gorbunova V, Ladiges WC, Shuldiner AR, Niedernhofer LJ, Robbins PD, Milman S, Suh Y, Vijg J, Barzilai N, Zhang ZD. Lin JR, et al. Among authors: shuldiner ar. Nat Aging. 2024 Sep;4(9):1328. doi: 10.1038/s43587-024-00708-x. Nat Aging. 2024. PMID: 39198704 No abstract available.
554 results