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Year Number of Results
2015 1
2016 1
2017 3
2018 1
2020 0
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Page 1
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
Oprescu SN, Griffin LB, Beg AA, Antonellis A. Oprescu SN, et al. Methods. 2017 Jan 15;113:139-151. doi: 10.1016/j.ymeth.2016.11.013. Epub 2016 Nov 20. Methods. 2017. PMID: 27876679 Free PMC article. Review.
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
Rips J, Meyer-Schuman R, Breuer O, Tsabari R, Shaag A, Revel-Vilk S, Reif S, Elpeleg O, Antonellis A, Harel T. Rips J, et al. Eur J Med Genet. 2018 Oct;61(10):616-620. doi: 10.1016/j.ejmg.2018.04.005. Epub 2018 Apr 12. Eur J Med Genet. 2018. PMID: 29655802 Free PMC article.
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
Orenstein N, Weiss K, Oprescu SN, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M. Orenstein N, et al. Clin Genet. 2017 Jun;91(6):913-917. doi: 10.1111/cge.12930. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 27891590 Free PMC article.
Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
Oprescu SN, Chepa-Lotrea X, Takase R, Golas G, Markello TC, Adams DR, Toro C, Gropman AL, Hou YM, Malicdan MCV, Gahl WA, Tifft CJ, Antonellis A. Oprescu SN, et al. Hum Mutat. 2017 Oct;38(10):1412-1420. doi: 10.1002/humu.23287. Epub 2017 Jul 14. Hum Mutat. 2017. PMID: 28675565 Free PMC article.
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
Simons C, Griffin LB, Helman G, Golas G, Pizzino A, Bloom M, Murphy JL, Crawford J, Evans SH, Topper S, Whitehead MT, Schreiber JM, Chapman KA, Tifft C, Lu KB, Gamper H, Shigematsu M, Taft RJ, Antonellis A, Hou YM, Vanderver A. Simons C, et al. Am J Hum Genet. 2015 Apr 2;96(4):675-81. doi: 10.1016/j.ajhg.2015.02.012. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817015 Free PMC article.