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Year | Number of Results |
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2007 | 1 |
2010 | 1 |
2016 | 1 |
2017 | 1 |
2019 | 1 |
2024 | 0 |
PubMed (cited) for id: 611358
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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Am J Hum Genet. 2019 Feb 7;104(2):275-286. doi: 10.1016/j.ajhg.2018.12.015. Epub 2019 Jan 18.
Am J Hum Genet. 2019.
PMID: 30665703
Free PMC article.
Prevalence and architecture of de novo mutations in developmental disorders.
Deciphering Developmental Disorders Study.
Deciphering Developmental Disorders Study.
Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.
Nature. 2017.
PMID: 28135719
Free PMC article.
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Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium.
Lek M, et al.
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
Nature. 2016.
PMID: 27535533
Free PMC article.
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The ubiquitin ligase Riplet is essential for RIG-I-dependent innate immune responses to RNA virus infection.
Oshiumi H, Miyashita M, Inoue N, Okabe M, Matsumoto M, Seya T.
Oshiumi H, et al.
Cell Host Microbe. 2010 Dec 16;8(6):496-509. doi: 10.1016/j.chom.2010.11.008.
Cell Host Microbe. 2010.
PMID: 21147464
Free article.
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Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration; Rahman N.
Douglas J, et al.
Nat Genet. 2007 Aug;39(8):963-5. doi: 10.1038/ng2083. Epub 2007 Jul 15.
Nat Genet. 2007.
PMID: 17632510
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