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2015 1
2016 3
2020 4
2021 6
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Page 1
The Human Phenotype Ontology in 2021.
Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN. Köhler S, et al. Among authors: lewis smith d. Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043. Nucleic Acids Res. 2021. PMID: 33264411 Free PMC article.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A; NCEE Study Group; EPGP Investigators; EuroEPINOMICS-RES Consortium; Genomics Research and Innovation Network, Thomas RH, Krause R, Weber Y, Helbig I. Galer PD, et al. Among authors: lewis smith d. Am J Hum Genet. 2020 Oct 1;107(4):683-697. doi: 10.1016/j.ajhg.2020.08.003. Epub 2020 Aug 26. Am J Hum Genet. 2020. PMID: 32853554 Free PMC article.
Early-onset genetic epilepsies reaching adult clinics.
Lewis-Smith D, Ellis CA, Helbig I, Thomas RH. Lewis-Smith D, et al. Brain. 2020 Mar 1;143(3):e19. doi: 10.1093/brain/awaa029. Brain. 2020. PMID: 32203577 Free PMC article. No abstract available.
Phenotypic convergence of Menkes and Wilson disease.
Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R. Bansagi B, et al. Among authors: lewis smith d. Neurol Genet. 2016 Nov 17;2(6):e119. doi: 10.1212/NXG.0000000000000119. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27878136 Free PMC article.
Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.
Lewis-Smith DJ, Duff J, Pyle A, Griffin H, Polvikoski T, Birchall D, Horvath R, Chinnery PF. Lewis-Smith DJ, et al. Neurol Genet. 2016 Oct 31;2(6):e110. doi: 10.1212/NXG.0000000000000110. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27830184 Free PMC article.
SCP2 mutations and neurodegeneration with brain iron accumulation.
Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF. Horvath R, et al. Among authors: lewis smith d. Neurology. 2015 Nov 24;85(21):1909-11. doi: 10.1212/WNL.0000000000002157. Epub 2015 Oct 23. Neurology. 2015. PMID: 26497993 Free PMC article. No abstract available.
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.
Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF. Lewis-Smith D, et al. Neurol Genet. 2016 Mar 3;2(2):e59. doi: 10.1212/NXG.0000000000000059. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123478 Free PMC article.
Climate change and epilepsy: Insights from clinical and basic science studies.
Gulcebi MI, Bartolini E, Lee O, Lisgaras CP, Onat F, Mifsud J, Striano P, Vezzani A, Hildebrand MS, Jimenez-Jimenez D, Junck L, Lewis-Smith D, Scheffer IE, Thijs RD, Zuberi SM, Blenkinsop S, Fowler HJ, Foley A; Epilepsy Climate Change Consortium, Sisodiya SM. Gulcebi MI, et al. Among authors: lewis smith d. Epilepsy Behav. 2021 Mar;116:107791. doi: 10.1016/j.yebeh.2021.107791. Epub 2021 Feb 10. Epilepsy Behav. 2021. PMID: 33578223 Review.
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