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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2006 1
2007 1
2008 1
2011 2
2012 3
2013 5
2014 1
2015 4
2016 3
2017 2
2018 1
2019 1
2020 2
2021 2
2022 2
2023 1
2024 2

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33 results

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Page 1
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS, Miller KA, Swagemakers SMA, Calpena E, McGowan SJ, Boute O, Collet C, Johnson D, Laffargue F, de Leeuw N, Morton JV, Noons P, Ockeloen CW, Phipps JM, Tan TY, Timberlake AT, Vanlerberghe C, Wall SA, Weber A, Wilson LC, Zackai EH, Mathijssen IMJ, Twigg SRF, Wilkie AOM. Tooze RS, et al. Among authors: miller ka. Genet Med. 2023 Sep;25(9):100883. doi: 10.1016/j.gim.2023.100883. Epub 2023 May 5. Genet Med. 2023. PMID: 37154149 Free article.
Influence of Eat, Sleep, and Console on Infants Pharmacologically Treated for Opioid Withdrawal: A Post Hoc Subgroup Analysis of the ESC-NOW Randomized Clinical Trial.
Devlin LA, Hu Z, Merhar SL, Ounpraseuth ST, Simon AE, Lee JY, Das A, Crawford MM, Greenberg RG, Smith PB, Higgins RD, Walsh MC, Rice W, Paul DA, Maxwell JR, Fung CM, Wright T, Ross J, McAllister JM, Crowley M, Shaikh SK, Christ L, Brown J, Riccio J, Wong Ramsey K, Braswell EF, Tucker L, McAlmon K, Dummula K, Weiner J, White JR, Newman S, Snowden JN, Young LW; Eunice Kennedy Shriver NICHD Neonatal Research Network and NIH Environmental Influences on Child Health Outcomes (ECHO) Program Institutional Development Award States Pediatric Clinical Trials Network. Devlin LA, et al. JAMA Pediatr. 2024 Jun 1;178(6):525-532. doi: 10.1001/jamapediatrics.2024.0544. JAMA Pediatr. 2024. PMID: 38619854 Free PMC article. Clinical Trial.
amplimap: a versatile tool to process and analyze targeted NGS data.
Koelling N, Bernkopf M, Calpena E, Maher GJ, Miller KA, Ralph HK, Goriely A, Wilkie AOM. Koelling N, et al. Among authors: miller ka. Bioinformatics. 2019 Dec 15;35(24):5349-5350. doi: 10.1093/bioinformatics/btz582. Bioinformatics. 2019. PMID: 31350555 Free PMC article.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA, Twigg SR, McGowan SJ, Phipps JM, Fenwick AL, Johnson D, Wall SA, Noons P, Rees KE, Tidey EA, Craft J, Taylor J, Taylor JC, Goos JA, Swagemakers SM, Mathijssen IM, van der Spek PJ, Lord H, Lester T, Abid N, Cilliers D, Hurst JA, Morton JE, Sweeney E, Weber A, Wilson LC, Wilkie AO. Miller KA, et al. J Med Genet. 2017 Apr;54(4):260-268. doi: 10.1136/jmedgenet-2016-104215. Epub 2016 Nov 24. J Med Genet. 2017. PMID: 27884935 Free PMC article.
amplimap: a versatile tool to process and analyze targeted NGS data.
Koelling N, Bernkopf M, Calpena E, Maher GJ, Miller KA, Ralph HK, Goriely A, Wilkie AOM. Koelling N, et al. Among authors: miller ka. Bioinformatics. 2020 Apr 15;36(8):2643. doi: 10.1093/bioinformatics/btz905. Bioinformatics. 2020. PMID: 32101608 Free PMC article. No abstract available.
Eeyore: a novel mouse model of hereditary deafness.
Miller KA, Williams LH, Dahl HH, Manji SS. Miller KA, et al. PLoS One. 2013 Sep 23;8(9):e74243. doi: 10.1371/journal.pone.0074243. eCollection 2013. PLoS One. 2013. PMID: 24086324 Free PMC article.
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Müller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH. Schwerd T, et al. Among authors: miller ka. J Exp Med. 2017 Sep 4;214(9):2547-2562. doi: 10.1084/jem.20161810. Epub 2017 Jul 26. J Exp Med. 2017. PMID: 28747427 Free PMC article.
33 results