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Year Number of Results
2007 1
2010 1
2011 1
2012 1
2013 1
2014 2
2015 3
2016 6
2017 3
2018 2
2019 2
2020 1
2021 5
2022 4
2023 5
2024 0

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33 results

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Page 1
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Meng L, et al. Among authors: miller mj. JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4. JAMA Pediatr. 2017. PMID: 28973083 Free PMC article.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Miller MJ, et al. Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2. Mol Genet Metab. 2015. PMID: 26385305 Free PMC article.
GCN2 eIF2 kinase promotes prostate cancer by maintaining amino acid homeostasis.
Cordova RA, Misra J, Amin PH, Klunk AJ, Damayanti NP, Carlson KR, Elmendorf AJ, Kim HG, Mirek ET, Elzey BD, Miller MJ, Dong XC, Cheng L, Anthony TG, Pili R, Wek RC, Staschke KA. Cordova RA, et al. Among authors: miller mj. Elife. 2022 Sep 15;11:e81083. doi: 10.7554/eLife.81083. Elife. 2022. PMID: 36107759 Free PMC article.
Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy.
Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J; Undiagnosed Diseases Network; Wang X, Miller MJ, Bi W, Liu P, Scaglia F. Chong SC, et al. Among authors: miller mj. Am J Med Genet A. 2023 Mar;191(3):776-785. doi: 10.1002/ajmg.a.63074. Epub 2022 Dec 19. Am J Med Genet A. 2023. PMID: 36537114
Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism.
Lancaster MS, Kim B, Doud EH, Tate MD, Sharify AD, Gao H, Chen D, Simpson E, Gillespie P, Chu X, Miller MJ, Wang Y, Liu Y, Mosley AL, Kim J, Graham BH. Lancaster MS, et al. Among authors: miller mj. Cell Rep. 2023 Oct 31;42(10):113241. doi: 10.1016/j.celrep.2023.113241. Epub 2023 Oct 17. Cell Rep. 2023. PMID: 37819759 Free PMC article.
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.
Wangler MF, Lesko B, Dahal R, Jangam S, Bhadane P, Wilson TE, McPheron M, Miller MJ. Wangler MF, et al. Among authors: miller mj. Mol Genet Metab. 2023 Nov;140(3):107680. doi: 10.1016/j.ymgme.2023.107680. Epub 2023 Aug 7. Mol Genet Metab. 2023. PMID: 37567036
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M, Dickson A, Miller MJ, Spector E, Enns GM, Baudet H, Pasquali M, Racacho L, Sadre-Bazzaz K, Wen T, Fogarty M, Fernandez R, Weaver MA, Feigenbaum A, Graham BH, Mao R. Flowers M, et al. Among authors: miller mj. Mol Genet Metab. 2023 Nov;140(3):107668. doi: 10.1016/j.ymgme.2023.107668. Epub 2023 Jul 26. Mol Genet Metab. 2023. PMID: 37549443
33 results